| Gene |
Gene
OMIM |
Disease |
Disease
OMIM |
Comment |
C10ORF2 (CHROMOSOME 10 OPEN READING FRAME 2, T7 GENE 4-LIKE PROTEIN WITH INTRAMITOCHONDRIAL NUCLEOID LOCALIZATION, TWINKLE) |
606075 |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (AUTOSOMAL DOMINANT), TYPE 3 |
609286 |
. |
| PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC |
157640 |
. |
SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, SANDO
» SPINOCEREBELLAR ATAXIA WITH EPILEPSY |
607459 |
. |
C1NH
(C1 ESTERASE INHIBITOR, SERPING 1) |
606860 |
ANGIOEDEMA
» ANGIONEUROTIC EDEMA
» QUINCKE EDEMA |
106100 |
. |
| C3 (COMPLEMENT COMPONENT 3) |
120700 |
COMPLEMENT COMPONENT 3 DEFICIENCY (AUTOSOMAL RECESSIVE)
» C3 DEFICIENCY (AUTOSOMAL RECESSIVE) |
120700 |
|
| MACULAR DEGENERATION, AGE-RELATED, TYPE 9, SUSCEPTIBILITY TO |
611378 |
|
CA2 (CARBONIC
ANHYDRASE 2)
|
259730 |
OSTEOPETROSIS
WITH RENAL TUBULAR ACIDOSIS
» GUIBAUD - VAINSEL SYNDROME
» CARBONIC ANHYDRASE 2 DEFICIENCY
» MARBLE BRAIN DISEASE |
259730 |
. |
CACNA1A (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT, CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4, CACNL1A4) |
601011 |
SPINOCEREBELLAR
ATAXIA 6, SCA6 |
183086 |
See SCA1, SCA2, SCA3, SCA6 |
MIGRAINE, FAMILIAL HEMIPLEGIC, 1
» MIGRAINE, SPORADIC HEMIPLEGIC |
141500 |
|
EPISODIC ATAXIA, TYPE 2, EA2
» ATAXIA, EPISODIC, WITH NYSTAGMUS
» EPISODIC ATAXIA, NYSTAGMUS-ASSOCIATED
» CEREBELLOPATHY, HEREDITARY PAROXYSMAL
ATAXIA
» FAMILIAL PAROXYSMAL
ACETAZOLAMIDE-RESPONSIVE
» HEREDITARY PAROXYSMAL CEREBELLAR ATAXIA
» CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE |
108500 |
|
CACNA1S (CACNL1A3) |
114208 |
HYPOKALEMIC PERIODIC PARALYSIS, HOKPP
» HYPERKALEMIC PERIODIC PARALYSIS |
170400 |
Exons 11 and 30, including the R528H, R1239H and R1239G Mutations |
MALIGNANT
HYPERTHERMIA SUSCEPTIBILITY 5, MHS5 |
601887 |
Exons 11 and 30, including the R528H, R1239H and R1239G Mutations |
THYROTOXIC PERIODIC PARALYSIS
» HASHITOXIC PERIODIC PARALYSIS |
188580 |
Exons 11 and 30, including the R528H, R1239H and R1239G Mutations |
| CACNB4 (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-4 SUBUNIT) |
601949 |
EPILEPSY, JUVENILE MYOCLONIC, JME
» JANZ SYNDROME |
606904 |
|
EPILEPSY, IDIOPATHIC GENERALIZED
» EPISODIC ATAXIA, TYPE 5, EA5 |
600669 |
|
CAPN3
(CALPAIN 3) |
114240 |
LIMB
GIRDLE MUSCULAR DYSTROPHY 2A, LGMD2A
» MUSCULAR DYSTROPHY, LIMB GIRDLE MUSCULAR DYSTROPHY 2A,
LGMD2A |
253600 |
. |
| CASP8 (CASPASE
8, FLICE, MCH5) |
601763 |
CASPASE
8 DEFICIENCY |
607271 |
|
| AUTOIMMUNE
LYMPHOPROLIFERATIVE SYNDROME, TYPE 1, ALPS, ALPS1A, ALPS1B |
601859 |
|
| CASP10 (CASPASE
10, MCH4, CASP10B, FLICE2) |
601762 |
AUTOIMMUNE
LYMPHOPROLIFERATIVE SYNDROME, TYPE 2, ALPS2 |
603909 |
|
CASQ2 (CALSEQUESTRIN 2) |
114251 |
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC
» VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC |
604772 |
|
CASR
(CALCIUM-SENSING RECEPTOR, PCAR1) |
601199 |
HYPOCALCIURIC
HYPERCALCEMIA, FAMILIAL, TYPE 1
» FAMILIAL BENIGN HYPERCALCEMIA 1 |
145980 |
Whole Gene or Deletion-Duplication |
HYPOCALCEMIA
(AUTOSOMAL DOMINANT) |
601198 |
Whole Gene or Deletion-Duplication |
NEONATAL
SEVERE PRIMARY HYPERPARATHYROIDISM |
239200 |
Whole Gene or Deletion-Duplication |
HYPOPARATHYROIDISM,
FAMILIAL ISOLATED |
146200 |
Whole Gene or Deletion-Duplication |
| CAT (CATALASE) |
115500 |
ACATALASEMIA
» ACATALASIA
» CATALASE DEFICIENCY |
115500 |
. |
CAV3 (CAVEOLIN
3) |
601253 |
MUSCULAR
DYSTROPHY, LIMB-GIRDLE, TYPE 1C, LGMD -1C |
607801 |
. |
RIPPLING
MUSCLE DISEASE 2, RMD
|
606072 |
. |
| CBS (CYSTATHIONINE
BETA-SYNTHASE) |
236200 |
HOMOCYSTINURIA
» CYSTATHIONINE BETA-SYNTHASE DEFICIENCY |
236200 |
Whole
Gene or Exons 4 and 8 (Including GLY307SER and ILE278THR) |
| CCM2 (MALCAVERNIN) |
607929 |
CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 2
» CAVERNOUS ANGIOMA, FAMILIAL, TYPE 2
» HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, TYPE 2 |
603284 |
|
| CCR5 |
601373 |
RESISTANCE TO HIV (HUMAN IMMUNODEFICIENCY VIRUS TYPE 1) |
609423 |
1 Mutation: DEL32 BP |
| CD2AP (CD2-ASSOCIATED PROTEIN) |
604241 |
FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 3 |
607832 |
|
CD3D (CD3 ANTIGEN, DELTA SUBUNIT, T-CELL ANTIGEN RECEPTOR COMPLEX, DELTA SUBUNIT OF T3) |
186790 |
SEVERE COMBINED IMMUNODEFICIENCY (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, SCID |
608971 |
|
CD3E (CD3 ANTIGEN, EPSILON SUBUNIT, T-CELL ANTIGEN RECEPTOR COMPLEX, EPSILON SUBUNIT OF T3) |
186830 |
SEVERE COMBINED IMMUNODEFICIENCY (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, SCID |
608971 |
|
| IMMUNODEFICIENCY DUE TO DEFECT IN CD3-EPSILON |
186830 |
|
CD40 (CD40 ANTIGEN, B CELL-ASSOCIATED MOLECULE CD40 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 5, TNFRSF5) |
109535 |
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3
» HYPER-IgM SYNDROME 3 |
606843 |
|
CDAN1 (CODANIN
1, DISCS LOST, DROSOPHILA, HOMOLOG OF)
|
607465 |
ANEMIA,
DYSERYTHROPOIETIC CONGENITAL, TYPE 1
» DYSERYTHROPOIETIC
ANEMIA, CONGENITAL, TYPE 1 |
224120 |
|
CDH1 (CADHERIN 1, UVOMORULIN)
|
192090 |
GASTRIC CANCER, FAMILIAL DIFFUSE |
137215 |
Whole Gene or Deletion-Duplication |
| CLEFT LIP WITH OR WITHOUT CLEFT PALATE, WITH GASTRIC CANCER, FAMILIAL DIFFUSE |
192090 |
Whole Gene or Deletion-Duplication |
| CANCER (SOMATIC MUTATIOS) |
. |
Whole Gene or Deletion-Duplication |
CDK4 |
123829 |
MALIGNANT
MELANOMA, CMM3 |
609048 |
Whole Gene or Exon 2 |
CDKL5 (CYCLIN-DEPENDENT
KINASE-LIKE 5, STK9)
|
. |
RETT
SYNDROME, ATYPICAL |
312750 |
. |
INFANTILE
SPASMS (X-LINKED), ISS X
» WEST SYNDROME
» EPILEPSY, INFANTILE SPASMS (X-LINKED)
|
308350 |
. |
| ANGELMAN
SYNDROME, ATYPICAL |
105830 |
. |
CDKN1C (CYCLIN-DEPENDENT KINASE INHIBITOR 1C, p57-KIP2) |
600856 |
BECKWITH-WIEDEMANN SYNDROME, BWS
» EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME |
130650 |
|
CDKN2A (CYCLIN-DEPENDENT KINASE INHIBITOR 2A; P16; CDKN2) |
600160 |
CUTANEOUS
MALIGNANT MELANOMA 2, CMM2 |
155601 |
. |
MALIGNANT
MELANOMA WITH NEURAL CELL TUMORS
» MELANOMA-ASTROCYTOMA SYNDROME |
155755 |
. |
| CEBPA (CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; C/EBP-ALPHA) |
116897 |
LEUKEMIA, ACUTE MYELOID, AML |
601626 |
|
CEP290 (CENTROSOMAL
PROTEIN, 290-KD, NEPHROCYSTIN 6; NPHP6)
|
610142 |
JOUBERT
SYNDROME, TYPE 5 |
610188 |
|
LEBER
CONGENITAL AMAUROSIS, TYPE 1, LCA1
» RETINAL
BLINDNESS, CONGENITAL |
204000 |
|
| MECKEL SYNDROME, TYPE 4 |
611134 |
|
| SENIOR-LOKEN
SYNDROME TYPE 6, SLSN6 |
610189 |
|
CETP (CHOLESTERYL ESTER TRANSFER PROTEIN, LIPID TRANSFER PROTEIN 1) |
118470 |
CHOLESTERYL
ESTER TRANSFER PROTEIN DEFICIENCY
» CETP DEFICIENCY |
607322 |
. |
| CFB (COMPLEMENT FACTOR B;PROPERDIN FACTOR B; FACTOR B; C3 PROACTIVATOR; GLYCINE-RICH BETA-GLYCOPROTEIN) |
138470 |
MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF |
173470 |
|
CFI (I FACTOR, COMPLEMENT COMPONENT 3 INACTIVATOR) |
217030 |
COMPLEMENT FACTOR 1 DEFICIENCY |
217030 |
|
CFH (HF1, COMPLEMENT
FACTOR H)
|
134370 |
HEMOLYTIC-UREMIC
SYNDROME, HUS
» COMBINED DEFICIENCY OF FACTOR H AND FACTOR H-LIKE 1
|
235400 |
. |
CFTR |
602421 |
CYSTIC
FIBROSIS, CF |
219700 |
Whole Gene or
Mutations Kit or MLPA |
CONGENITAL
BILATERAL ABSENCE OF VAS DEFERENS, CBAVD |
277180 |
Whole Gene or
Mutations Kit or MLPA |
CGI58 (COMPARATIVE GENE IDENTIFICATION 58, ABHD5) |
604780 |
CHANARIN-DORFMAN DISEASE
» ICHTHYOTIC NEUTRAL LIPID STORAGE DISEASE
» NEUTRAL LIPID STORAGE DISEASE
» ICHTHYOSIFORM ERYTHRODERMA WITH LEUKOCYTE VACUOLATION
» TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION |
275630 |
|
| CHAT (CHOLINE ACETYLTRANSFERASE) |
118490 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
» CONGENITAL MYASTHENIC SYNDROME, TYPE 1A
» MYASTHENIA GRAVIS, FAMILIAL INFANTILE, TYPE 2 |
254210 |
|
CHD7 (CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7) |
608892 |
CHARGE SYNDROME |
214800 |
|
CHEK2 (CHECKPOINT KINASE 2) |
604373 |
LI-FRAUMENI SYNDROME 2 |
609265 |
|
| BREAST CANCER, FAMILIAL |
114480 |
Whole Gene or *1100delC |
CHM (REP1, RAB ESCORT PROTEIN 1, RAB GERANYLGERANYL TRANSFERASE) |
300390 |
CHOROIDEREMIA
» TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE
» CHOROIDAL SCLEROSIS |
303100 |
|
| CHRNA1 (CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; ACETYLCHOLINE RECEPTOR, MUSCLE, ALPHA SUBUNIT) |
100690 |
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 2a |
601462 |
|
| MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL |
608930 |
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
» PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE |
253290 |
|
| CHRNA2 (CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 2; ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-2 SUBUNIT) |
118502 |
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4
» EPILEPSY, FAMILIAL, WITH NOCTURNAL WANDERING AND ICTAL FEAR |
610353 |
|
CHRNA4 (CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4, ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-4 SUBUNIT) |
118504 |
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1 |
600513 |
|
TOBACCO ADDICTION, SUSCEPTIBILITY TO
» NICOTINE DEPENDENCE, SUSCEPTIBILITY TO |
188890 |
|
| CHRNB1 (CHOLINERGIC RECEPTOR, NICOTINIC, BETA POLYPEPTIDE 1;ACETYLCHOLINE RECEPTOR, MUSCLE, BETA SUBUNIT ) |
100710 |
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 2a |
601462 |
|
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 1d
» MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH FACIAL DYSMORPHISM |
608931 |
|
| CHRNB2 (CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 2) |
118507 |
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3 |
605375 |
|
| CHRNE (CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE, EPSILON SUBUNIT) |
100725 |
MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL |
608930 |
|
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 1d
» MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH FACIAL DYSMORPHISM |
608931 |
|
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 2a |
601462 |
|
| CHRND (CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE, DELTA SUBUNIT) |
100720 |
MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL |
608930 |
|
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 2a |
601462 |
|
CHRNG (CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE)
|
100730 |
ESCOBAR SYNDROME
» MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
» MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE
» PTERYGIUM COLLI SYNDROME
» PTERYGIUM UNIVERSALE |
265000 |
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
» PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE |
253290 |
|
CIAS1
(CRYOPYRIN) |
606416 |
COLD
URTICARIA, FCU
» FAMILIAL COLD AUTOINFLAMMATORY SYNDROME |
120100 |
. |
CINCA
SYNDROME
» MULTISYSTEM INFLAMMATORY DISEASE, NEONATAL ONSET, NOMID |
607115 |
. |
MUCKLE-WELLS
SYNDROME |
191900 |
. |
CLCN1 |
118425 |
MYOTONIA
CONGENITA (AUTOSOMAL DOMINANT)
» THOMSEN DISEASE |
160800 |
. |
MYOTONIA
CONGENITA (AUTOSOMAL RECESSIVE)
» BECKER MYOTONIA |
255700 |
. |
MYOTONIA
LEVIOR |
. |
. |
| CLCN2 |
600570 |
EPILEPSY, JUVENILE MYOCLONIC, JME
» JANZ SYNDROME |
606904 |
|
| EPILEPSY, JUVENILE ABSENCE |
607631 |
|
| EPILEPSY WITH GRAND MAL SEIZURES ON AWAKENING |
607628 |
|
CLCN5 |
300008 |
DENT
NEPHROCALCINOSIS |
300009 |
. |
NEPHROLITHIASIS
(X-LINKED) |
310468 |
. |
| CLCN7 |
602727 |
OSTEOPETROSIS, TYPE 2 (AUTOSOMAL DOMINANT), OPTA2
» ALBERS-SCHONBERG DISEASE (AUTOSOMAL DOMINANT)
» MARBLE BONES (AUTOSOMAL DOMINANT)
» OSTEOSCLEROSIS FRAGILIS GENERALISATA |
166600 |
|
OSTEOPETROSIS, TYPE 4 (AUTOSOMAL RECESSIVE), OPTB4
» OSTEOPETROSIS, INFANTILE MALIGNANT, TYPE 2 |
611490 |
|
| CLCNKA (CLCK1, CHLORIDE CHANNEL, KIDNEY, A) |
602024 |
BARTTER SYNDROME, TYPE 4
» BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS |
602522 |
|
| CLCNKB (CLCNB, CHLORIDE CHANNEL, KIDNEY, B) |
602023 |
BARTTER SYNDROME, TYPE 3
» BARTTER SYNDROME, CLASSIC
» BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA
|
607364 |
|
BARTTER SYNDROME, TYPE 4
» BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS |
602522 |
|
CLDN16 (CLAUDIN 16, PARACELLIN 1)
|
603959 |
HYPOMAGNESEMIA, PRIMARY
» MAGNESIUM, DEFECT IN RENAL TUBULAR TRANSPORT OF |
248250 |
|
| CLDN19 (CLAUDIN 19) |
610036 |
HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT
» MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA |
248190 |
|
CLN2 (TRIPEPTIDYL PEPTIDASE I; TPP1) |
204500 |
CEROID
LIPOFUCSINOSIS, CLN2
» JANSKY-BIELSCHOWSKY DISEASE |
204500 |
Whole Gene or 2 Common Mutations: R208X and IVS5-1G>C |
CLN3 |
607042 |
CEROID
LIPOFUCSINOSIS, CLN3
» VOGT-SPIELMEYER DISEASE
» BATTEN DISEASE |
204200 |
Whole Gene or Common 1kb Deletion |
| CLN5 |
608102 |
CEROID
LIPOFUCSINOSIS, CLN5
» NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT |
256731 |
|
CLN6 |
606725 |
CEROID
LIPOFUCSINOSIS, CLN6
» CEROID LIPOFUCSINOSIS, NEURONAL, LATE-INFANTILE
|
601780 |
. |
| CLN8 |
607837 |
CEROID
LIPOFUCSINOSIS, CLN8
» CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
» NORTHERN EPILEPSY
» EPILEPSY, PROGRESSIVE, WITH MENTAL RETARDATION |
610003 |
|
CLN PANEL:
-
CLN1
- CLN2
-
CLN3
-
CLN5
-
CLN6
-
CLN7
-
CLN8
-
CLN10 |
|
CEROID LIPOFUSCINOSIS, CLN |
|
|
| CNGB3 (CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3) |
605080 |
ACHROMATOPSIA, TYPE 3 |
262300 |
|
STARGARDT DISEASE, TYPE 1
» MACULAR DEGENERATION, JUVENILE
» FUNDUS FLAVIMACULATUS
» MACULAR DYSTROPHY WITH FLECKS, TYPE 1 |
248200 |
|
COCH (COCHLIN)
|
603196 |
DEAFNESS,
DFNA9
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 9 |
603196 |
Whole Gene or 1
Mutation: P51S |
| COH1 |
607817 |
COHEN
SYNDROME, COH1 |
216550 |
Whole Gene or Exon
23, including the “Finnish mutation” (c.3348-3349delCT) |
COL1A1 |
120150 |
See COL1A1 and COL1A2 |
. |
. |
COL1A1 and COL1A2
|
120150
.
|
EHLERS-DANLOS TYPE 1, EDS1 |
130000 |
Only
on skin fibroblast cultures for mutation analysis in proband (See
note)
|
EHLERS-DANLOS
TYPE 7 , DOMINANT , EDS7 |
130060 |
Splice
site mutations exons 5, 6 and 7 |
| OSTEOGENESIS
IMPERFECTA TYPE 1, OI1 |
166200 |
Only
on skin fibroblast cultures for mutation analysis in proband (See
note) |
| OSTEOGENESIS
IMPERFECTA TYPE 2, OI2 |
166210 |
Only
on skin fibroblast cultures for mutation analysis in proband (See
note) |
| OSTEOGENESIS
IMPERFECTA TYPE 3, OI3 |
259420 |
Only
on skin fibroblast cultures for mutation analysis in proband (See
note) |
| OSTEOGENESIS
IMPERFECTA TYPE 4, OI4 |
166220 |
Only
on skin fibroblast cultures for mutation analysis in proband (See
note) |
COL1A2 |
120160 |
See COL1A1 and COL1A2 |
. |
. |
| COL2A1
|
120140
|
ACHONDROGENESIS
TYPE 2 |
200610 |
|
HYPOCHONDROGENESIS |
. |
|
KNIEST
DYSPLASIA
|
156550 |
|
| STICKLER
SYNDROME TYPE 1 |
108300 |
|
SPONDYLOEPIPHYSEAL
DYSPLASIA (SED CONGENITA)
|
183900 |
|
| COL3A1 |
120180 |
EHLERS
-DANLOS TYPE 4 EDS 4 |
130050 |
Only
on skin fibroblast cultures for mutation analysis in proband (See
note) |
| FIBROMUSCULAR
DYSPLASIA |
135580 |
Only
on skin fibroblast cultures for mutation analysis in proband (See
note) |
| COL4A1 |
120130 |
PORENCEPHALY, FAMILIAL
» HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY |
175780 |
Whole Gene or Deletion-Duplication |
| ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, HANAC |
611773 |
Whole Gene or Deletion-Duplication |
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
» LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY
» RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY |
607595 |
Whole Gene or Deletion-Duplication |
| COL4A3 |
120070
|
ALPORT
SYNDROME (AUTOSOMAL RECESSIVE) |
203780 |
. |
HEMATURIA,
BENIGN FAMILIAL
» THIN-BASEMENT-MEMBRANE NEPHROPATHY
|
141200 |
. |
| COL4A4 |
120131 |
ALPORT
SYNDROME (AUTOSOMAL RECESSIVE) |
203780 |
. |
HEMATURIA,
BENIGN FAMILIAL
» THIN-BASEMENT-MEMBRANE NEPHROPATHY
|
141200 |
. |
| COL4A5 |
303630 |
ALPORT
SYNDROME (X-LINKED)
» ALPORT SYNDROME-LIKE HEREDITARY NEPHRITIS
|
301050 |
. |
| COL5A1 and COL5A2 |
120215 |
EHLERS
- DANLOS TYPE 1, EDS 1 |
130000 |
Only
on skin fibroblast cultures for mutation analysis in proband (See
note) |
| EHLERS
- DANLOS TYPE 2, EDS 2 |
130010 |
Only
on skin fibroblast cultures for mutation analysis in proband (See
note) |
| COL6A1, COL6A2, COL6A3 |
120220and
120240
and
120250 |
BETHLEM MYOPATHY
» MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES
» MUSCULAR DYSTROPHY, BENIGN CONGENITAL |
158810 |
3 Genes |
ULLRICH CONGENITAL MUSCULAR DYSTROPHY
» MUSCULAR DYSTROPHY, SCLEROATONIC |
254090 |
3 Genes |
| COL7A1 (COLLAGEN,
TYPE 7, ALPHA-1) |
120120 |
EPIDERMOLYSIS
BULLOSA DYSTROPHICA (AUTOSOMAL RECESSIVE)
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, TYPE HALLOPEAU-SIEMENS
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, LOCALISATA VARIANT (AUTOSOMAL RECESSIVE) |
226600 |
. |
EPIDERMOLYSIS
BULLOSA DYSTROPHICA (AUTOSOMAL DOMINANT)
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE
» ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA
» EPIDERMOLYSIS BULLOSA, PRETIBIAL WITH LICHENOID FEATURES |
131750 |
. |
| EPIDERMOLYSIS
BULLOSA, PRETIBIAL |
131850 |
. |
EPIDERMOLYSIS
BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY
OF NAILS
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE |
132000 |
. |
TRANSIENT
BULLOUS DERMOLYSIS OF THE NEWBORN
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL (AUTOSOMAL DOMINANT)
» TOENAIL DYSTROPHY, ISOLATED |
131705 |
. |
| EPIDERMOLYSIS
BULLOSA PRURIGINOSA (AUTOSOMAL DOMINANT AND RECESSIVE) |
604129 |
. |
EPIDERMOLYSIS
BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE
» EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE |
607600 |
. |
COL10A1
(COLLAGEN, TYPE X, ALPHA1) |
120110 |
METAPHYSEAL
CHONDRODYSPLASIA, SCHMID TYPE |
156500 |
Whole
Gene |
COL11A1 (COLLAGEN, TYPE 11, ALPHA-1) |
120280 |
MARSHALL SYNDROME |
154780 |
Turn-around-time: 30 Weeks |
| STICKLER SYNDROME, TYPE 2 |
604841 |
Turn-around-time: 30 Weeks |
| COL11A2 (COLLAGEN, TYPE 11, ALPHA-2) |
120290 |
STICKLER SYNDROME, TYPE 3 |
184840 |
Turn-around-time: 30 Weeks |
DEAFNESS, DFNA53
»DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 53 |
609706 |
Turn-around-time: 30 Weeks |
WEISSENBACHER-ZWEYMULLER SYNDROME
» PIERRE ROBIN SYNDROME WITH FETAL CHONDRODYSPLASIA |
277610 |
Turn-around-time: 30 Weeks |
DEAFNESS, DFNA13
»DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 13 |
601868 |
Turn-around-time: 30 Weeks |
| OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, OSMED |
215150 |
Turn-around-time: 30 Weeks |
COL17A1 (COLLAGEN,
TYPE 17, ALPHA-1)
|
113811 |
EPIDERMOLYSIS
BULLOSA, GENERALIZED ATROPHIC BENIGN
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE
» EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT |
226650 |
. |
| COLQ (COLLAGENIC TAIL OF ENDPLATE ACETYLCHOLINESTERASE; ACETYLCHOLINESTERASE-ASSOCIATED COLLAGEN) |
603033 |
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY
» ENGEL CONGENITAL MYASTHENIC SYNDROME
» CONGENITAL MYASTHENIC SYNDROME, TYPE 1C |
603034 |
|
COMP |
600310 |
MULTIPLE
EPIPHYSEAL DYSPLASIA 1, EDM1 |
132400 |
Whole Gene or Exons 13, 14 and 16 harbouring 70% of COMP mutations |
PSEUDOACHONDROPLASIA |
177170 |
Whole Gene or Exons 13, 14 and 16 harbouring 70% of COMP mutations |
| COQ2 (COQ2, S. CEREVISIAE, HOMOLOG OF; PARAHYDROXYBENZOATE-POLYPRENYLTRANSFERASE, MITOCHONDRIAL) |
609825 |
COENZYME Q10 DEFICIENCY |
607426 |
|
COX10 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX10, HEME A:FARNESYLTRANSFERASE) |
602125 |
CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
|
220110 |
. |
| LEIGH SYNDROME |
256000 |
. |
COX15 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX15) |
603646 |
CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF |
220110 |
. |
| LEIGH SYNDROME |
256000 |
. |
| CPO (COPROPORPHYRINOGEN OXIDASE) |
121300 |
COPROPORPHYRIA
» COPROPORPHYRINOGEN OXIDASE DEFICIENCY
» HARDEROPORPHYRINURIA |
121300 |
|
| CPS1 (CARBAMOYL PHOSPHATE SYNTHETASE 1) |
608307 |
CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY, HYPERAMMONEMIA DUE TO
» CPS1 DEFICIENCY |
237300 |
|
CPT1A (CARNITINE PALMITOYLTRANSFERASE 1, LIVER, CPT1) |
600528 |
CARNITINE PALMITOYLTRANSFERASE 1A DEFICIENCY
» CPT1 DEFICIENCY |
255120 |
. |
| CPT1B (CARNITINE PALMITOYLTRANSFERASE I, MUSCLE) |
601987 |
NO DISEASE |
. |
|
CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CPT2)
|
600650 |
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, INFANTILE
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, HEPATOCARDIOMUSCULAR
» CPT2 DEFICIENCY, HEPATIC |
600649 |
. |
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET
» CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, MYOPATHIC
» CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, ADULT-ONSET
» CPT2 DEFICIENCY, MYOPATHIC
» CPT2 DEFICIENCY, LATE-ONSET |
255110 |
. |
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LETHAL NEONATAL
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, NEONATAL
» CPT2 DEFICIENCY, LETHAL NEONATAL |
608836 |
. |
| MYOPATHY, VARIABLE |
|
. |
CRB1 (CRUMBS, DROSOPHILA, HOMOLOG OF, 1) |
604210 |
LEBER CONGENITAL AMAUROSIS DUE TO DEFECT IN CRB1 |
604210 |
|
RETINITIS PIGMENTOSA 12, RP12
» RP12 WITH COATS-LIKE EXUDATIVE VASCULOPATHY
» RETINITIS PIGMENTOSA WITH PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM |
600105 |
|
| PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY |
172870 |
|
CREBBP (CREB-BINDING PROTEIN, CBP) |
600140 |
RUBINSTEIN-TAYBI SYNDROME
» BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION
» BROAD THUMB-HALLUX SYNDROME |
180849 |
Whole Gene |
| CRTAP (CARTILAGE-ASSOCIATED PROTEIN) |
605497 |
OSTEOGENESIS IMPERFECTA, TYPE 7, OI7 |
610682 |
|
| CSRP3 (CYSTEINE- AND GLYCINE-RICH PROTEIN 3; LIM DOMAIN PROTEIN, CARDIAC) |
600824 |
CARDIOMYOPATHY, DILATED, TYPE 1M |
607482 |
|
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, TYPE 12 |
612124 |
|
CSTB
(CYSTATIN B, STEFIN B) |
601145 |
EPILEPSY,
PROGRESSIVE MYOCLONUS
» UNVERRICH-LUNDBORG DISEASE |
254800 |
Repeat |
| CTDP1 (C-TERMINAL DOMAIN OF RNA POLYMERASE II SUBUNIT A, PHOSPHATASE OF, SUBUNIT 1; TRANSCRIPTION FACTOR IIF-ASSOCIATING CTD PHOSPHATASE 1; FCP1) |
604927 |
CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, CCFDN |
604168 |
1 Mutation: IVS6, C-T, +389 |
| CTF1 (CARDIOTROPHIN 1) |
600435 |
CARDIOMYOPATHY, DILATED |
|
|
CTNS (CYSTINOSIN) |
606272 |
CYSTINOSIS, NEPHROPATHIC |
219800 |
Whole Gene or Common 56 kb Deletion |
CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT, NEPHROPATHIC TYPE
» CYSTINOSIS, INTERMEDIATE |
219900 |
Whole Gene or Common 56 kb Deletion |
| CYSTINOSIS, ADULT NONNEPHROPATHIC |
219750 |
Whole Gene or Common 56 kb Deletion |
| CTRC (CHYMOTRYPSIN C, CALDECRIN) |
601405 |
HEREDITARY PANCREATITIS |
167800 |
|
CTSK (CATHEPSIN
K)
|
601105 |
PYCNODYSOSTOSIS |
265800 |
. |
CX26
(CONNEXIN 26) |
.. |
See GJB2 |
. |
. |
CX30
(CONNEXIN 30) |
.. |
See GJB6 |
. |
. |
CX30.3
(CONNEXIN 30.3) |
.. |
See GJB4 |
. |
. |
CX31
(CONNEXIN 31) |
.. |
See GJB3 |
. |
. |
CYBA
(p22 PHOX) |
233690 |
CHRONIC
GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b-NEGATIVE
FORM |
233690 |
. |
CYBB
(p91 PHOX) |
306400 |
CHRONIC
GRANULOMATOUS DISEASE (X-LINKED) |
306400 |
. |
CYP1B1,
OPTN and
MYOC |
|
GLAUCOMA |
. |
Analysis of 3 Genes |
CYP1B1 (CYTOCHROME
P450, SUBFAMILY 1, POLYPEPTIDE 1)
|
601771 |
GLAUCOMA
3, PRIMARY INFANTILE A, GLC3A
» BUPHTHALMOS |
231300 |
See also CYP1B1,
OPTN and
MYOC |
| PETERS
ANOMALY |
604229 |
See also CYP1B1,
OPTN and
MYOC |
| CYP11B1 (CYTOCHROME
P450, SUBFAMILY 11B, POLYPEPTIDE 1, STEROID 11-BETA-HYDROXYLASE,
P450C11) |
610613 |
ADRENAL
HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE
DEFICIENCY
» ADRENAL
HYPERPLASIA 4
STEROID 11-BETA-HYDROXYLASE DEFICIENCY
» 11-@BETA-HYDROXYLASE
DEFICIENCY
» ADRENAL
HYPERPLASIA, HYPERTENSIVE FORM
» P450C11B1
DEFICIENCY |
202010 |
Whole Gene or CYP11B1/
CYP11B2 fusion |
CYP11B2 (CYTOCHROME
P450, SUBFAMILY XIB, POLYPEPTIDE 2, STEROID 11/18-BETA-HYDROXYLASE,
STEROID 18-OXIDASE,
ALDOSTERONE SYNTHASE, CORTICOSTERONE METHYLOXIDASE) |
124080 |
CORTICOSTERONE
METHYLOXIDASE TYPE 1 DEFICIENCY
» ALDOSTERONE
DEFICIENCY 1
» HYPERRENINEMIC
HYPOALDOSTERONISM, FAMILIAL, 1
» ALDOSTERONE
DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE
» 18-@HYDROXYLASE
DEFICIENCY
» STEROID
18-@HYDROXYLASE DEFICIENCY |
203400 |
|
| CYP17A1 (CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1; STEROID 17-ALPHA-MONOOXYGENASE) |
609300 |
ADRENAL HYPERPLASIA, TYPE 5
» 17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY
» 17-@ALPHA-HYDROXYLASE DEFICIENCY |
202110 |
|
CYP19A1 (AROMATASE)
|
107910 |
AROMATASE
DEFICIENCY
» PSEUDOHERMAPHRODITISM,
FEMALE, DUE TO PLACENTAL AROMATASE DEFICIENCY |
107910 |
Sequence
analysis of exons 9 and 10, including the following common
mutations:
Arg365Gln
Val370Met
Arg375Cys
Arg435Cys
Cys437Tyr
Arg457Term |
CYP21A2 |
201910 |
ADRENAL
HYPERPLASIA, CONGENITAL DUE TO 21-HYDROXYLASE DEFICIENCY,
CAH1
» 21-ALPHA-HYDROXYLASE
DEFICIENCY
» CYP21
DEFICIENCY |
201910 |
Whole Gene and Deletions-Duplications |
HYPERANDROGENISM
|
. |
Whole Gene and Deletions-Duplications |
| CYP27A1 |
606530 |
CEREBROTENDINOUS XANTHOMATOSIS, CTX
» CEREBRAL CHOLESTERINOSIS |
213700 |
|
CYP27B1 |
264700 |
PSEUDO-VITAMIN
D DEFICIENCY RICKETS (AUTOSOMAL RECESSIVE), PDDR
» RICKETS, PSEUDO-VITAMIN D DEFICIENCY RICKETS (AUTOSOMAL RECESSIVE) |
264700 |
Whole Gene |