ABCC8 (ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8, SUR1)

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1
» PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
» HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY
» HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA
» NESIDIOBLASTOSIS OF PANCREAS
» HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS
» HYPERINSULINISM, CONGENITAL ONEMIA SYNDROME

BTD (BIOTINIDASE)

BIOTINIDASE DEFICIENCY
» MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET
» MULTIPLE CARBOXYLASE DEFICIENCY, JUVENILE-ONSET
» BTD DEFICIENCY

8 Mutations: D444H, A171T, F403V, G98, 7-BP DEL/3-BP INS, Q456H, R157H, R538C, D252G, Detecting 60% of all BTD Mutations

CHRNG (CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE)

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

CREBBP (CREB-BINDING PROTEIN)

RUBINSTEIN-TAYBI SYNDROME
» BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION
» BROAD THUMB-HALLUX SYNDROME

EIF2AK3 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 3)

EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
» MED-IDDM SYNDROME
» IDDM-MED SYNDROME
» WOLCOTT-RALLISON SYNDROME

FOXP3 (FORKHEAD BOX P3, SCURFIN)

IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY (X-LINKED), IPEX
» X-LINKED AUTOIMMUNITY-ALLERGIC DYSREGULATION SYNDROME
» IDDM-SECRETORY DIARRHEA SYNDROME
» AUTOIMMUNITY-IMMUNODEFICIENCY SYNDROME
» DIARRHEA, POLYENDOCRINOPATHY, FATAL INFECTION SYNDROME
» ENTEROPATHY, AUTOIMMUNE, WITH HEMOLYTIC ANEMIA AND POLYENDOCRINOPATHY
» POLYENDOCRINOPATHY, IMMUNE DYSFUNCTION, AND DIARRHEA
» DIABETES MELLITUS, CONGENITAL INSULIN-DEPENDENT, WITH FATAL SECRETORY DIARRHEA
» IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY

FREM2 (FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 2)

FRASER SYNDROME
» CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS
» CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME

GH1

PITUITARY DWARFISM 1
» PRIMORDIAL DWARFISM
» SEXUAL ATELEIOTIC DWARFISM
» GROWTH HORMONE DEFICIENCY, ISOLATED
» AUTOSOMAL RECESSIVE
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE 1A / 1B
» ILLIG-TYPE GROWTH HORMONE DEFICIENCY

PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY (AUTOSOMAL DOMINANT)
» GROWTH HORMONE DEFICIENCY, ISOLATED (AUTOSOMAL DOMINANT)
» ISOLATED GROWTH HORMONE DEFICIENCY, TYPE 2

PITUITARY DWARFISM 4
» PITUITARY DWARFISM WITH NORMAL IMMUNOREACTIVE GROWTH HORMONE AND LOW SOMATOMEDIN
» BIODEFECTIVE GROWTH HORMONE
» KOWARSKI SYNDROME

GLUD1 (GLUTAMATE DEHYDROGENASE 1)

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6
» HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
» PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
» HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY
» HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA
» NESIDIOBLASTOSIS OF PANCREAS
» HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS
» HYPERINSULINISM, CONGENITAL ONEMIA SYNDROME

IF (I FACTOR, COMPLEMENT COMPONENT 3 INACTIVATOR)

LRAT (LECITHIN RETINOL ACYLTRANSFERASE)

MATP (MEMBRANE-ASSOCIATED TRANSPORTER PROTEIN, AIM1)

MCP (MEMBRANE COFACTOR PROTEIN, MEASLES VIRUS RECEPTOR, CD46, MIC10, TLX, TRA2.10)

MERTK (MER TYROSINE KINASE PROTOONCOGENE)

300500 

ALBINISM, OCULAR, TYPE 1, OA1
» NETTLESHIP-FALLS TYPE OCULAR ALBINISM

OTOF (OTOFERLIN)

DEAFNESS, DFNB9
» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 9
» AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, TYPE 1

PEX7 (PEROXISOME BIOGENESIS FACTOR 7, PEROXIN 7,
PEROXISOMAL PTS2 RECEPTOR)

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
» CHONDRODYSTROPHIA CALCIFICANS PUNCTATA

PPARG (PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, PPARG1, PPARG2, PPARG3,
PAX8/PPARG FUSION GENE)

DIABETES MELLITUS, NONINSULIN-DEPENDENT, NIDDM
» DIABETES MELLITUS, TYPE 2
» NONINSULIN-DEPENDENT DIABETES MELLITUS
» MATURITY-ONSET DIABETES
» INSULIN RESISTANCE, SUSCEPTIBILITY TO

RECQL2 (RECQ PROTEIN-LIKE 2)

RECQL4 (RECQ PROTEIN-LIKE 4, DNA HELICASE, RECQ-LIKE, TYPE 4 )

ROTHMUND-THOMSON SYNDROME
» POIKILODERMA ATROPHICANS AND CATARACT

BALLER-GEROLD SYNDROME
» CRANIOSYNOSTOSIS WITH RADIAL DEFECTS
» CRANIOSYNOSTOSIS-RADIAL APLASIA SYNDROME

RPE65 (RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD)

RETINITIS PIGMENTOSA 20, RP20

RPGR (RETINITIS PIGMENTOSA GTPase REGULATOR)

RETINITIS PIGMENTOSA 3, RP3
» CHOROIDORETINAL DEGENERATION WITH RETINAL REFLEX IN HETEROZYGOUS WOMEN

RETINITIS PIGMENTOSA 15, RP15
» CONE-ROD DEGENERATION (X-LINKED)

CONE-ROD DYSTROPHY, (X-LINKED) TYPE 1, CORDX1
» ACHROMATOPSIA, INCOMPLETE (X-LINKED)

304020

RPGRIP1 (RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN, RPGR-INTERACTING PROTEIN)

SCNN1A (SODIUM CHANNEL, NONVOLTAGE-GATED 1, ALPHA SUBUNIT, SCNN1, SCNEA)

SCNN1G (SODIUM CHANNEL, NONVOLTAGE-GATED 1, GAMMA SUBUNIT, SCNEG)

LIDDLE SYNDROME
» PSEUDOALDOSTERONISM

SLC7A7 (SOLUTE CARRIER FAMILY 7, MEMBER 7)

LYSINURIC PROTEIN INTOLERANCE
» DIBASICAMINO ACIDURIA, TYPE 2

SLC22A12 (SOLUTE CARRIER FAMILY 22, URATE TRANSPORTER, MEMBER 12,  ORGANIC ANION TRANSPORTER 4-LIKE, OAT4L, URATE TRANSPORTER 1, URAT1

HYPOURICEMIA, RENAL
» DALMATIAN HYPOURICEMIA
» RENAL HYPOURICEMIA
» URIC ACID UROLITHIASIS

220150

HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
» HYPOPARATHYROIDISM WITH SHORT STATURE, MENTAL RETARDATION, AND SEIZURES
» SANJAD-SAKATI SYNDROME
» HYPOPARATHYROIDISM, CONGENITAL, ASSOCIATED WITH DYSMORPHISM, GROWTH RETARDATION, AND DEVELOPMENTAL DELAY

TIMP3 (TISSUE INHIBITOR OF METALLOPROTEINASE 3)

FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
» SORSBY SYNDROME

TYRP1 (TYROSINASE-RELATED PROTEIN 1, TRP, CATALASE B)