Pathology and Clinical Laboratory Medicine (King Fahad Medical City), KFMC

General information

Pathology and Clinical Laboratory Medicine, KFMC
King Fahad Medical City
As Sulimaniyah
Riyadh
Saudi Arabia - 12273
https://www.kfmc.med.sa/
Organization ID: 506801

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 174

Gene

GeneSubmissionsLast Updated
AAAS1Jun 18, 2019
ABCB111May 26, 2020
ABCB42May 26, 2020
ACADVL1May 26, 2020
ADAMTSL25May 26, 2020
ADAT31Jun 18, 2019
ANTXR24May 26, 2020
AP4M12May 26, 2020
BCKDHB1May 26, 2020
C4A6May 26, 2020
C4B2May 26, 2020
CAVIN11May 26, 2020
CC2D2A6May 26, 2020
CEP1351May 26, 2020
CEP2907May 26, 2020
CLN51May 26, 2020
CNTNAP21May 26, 2020
COL13A11May 26, 2020
COL18A11May 26, 2020
COL1A11May 26, 2020
COL7A14May 26, 2020
CTSK3May 26, 2020
DONSON1May 26, 2020
ECEL12May 26, 2020
FAM189A11May 26, 2020
FBP11May 26, 2020
FBXL31May 26, 2020
FMN21May 26, 2020
FRG2C7May 26, 2020
FRRS1L1May 26, 2020
G6PC11Jun 18, 2019
GAA2May 26, 2020
GALC1Jun 18, 2019
GALNS1May 26, 2020
GALNT102May 26, 2020
GCDH1Jun 18, 2019
GUSB1Dec 4, 2018
HFE1May 26, 2020
HFE-AS11May 26, 2020
HMGCL1Jun 18, 2019
HSPG22May 26, 2020
HYDIN3May 26, 2020
ICA12May 26, 2020
IL7R2May 26, 2020
ISCA21Jun 18, 2019
KIF71May 26, 2020
LAMA21Jun 18, 2019
LAMB21May 26, 2020
LOC1106314171May 26, 2020
MCM61May 26, 2020
MFF1May 26, 2020
MICU11May 26, 2020
MMADHC1May 26, 2020
MMUT6May 26, 2020
MPDZ1May 26, 2020
MPV171Jun 18, 2019
MYO7A2May 26, 2020
NCAPH21May 26, 2020
NLRC51May 26, 2020
NPC11May 26, 2020
P3H12May 26, 2020
PAH1May 26, 2020
PC2May 26, 2020
PCCA2May 26, 2020
PCNT2May 26, 2020
PGAP31May 26, 2020
PIK3CD1May 26, 2020
PIK3CD-AS11May 26, 2020
POLR3A1May 26, 2020
POMT12Jun 18, 2019
PSAP1Jun 18, 2019
PTS3May 26, 2020
PYGL1Jun 18, 2019
QDPR1May 26, 2020
RAB3GAP21May 26, 2020
RFXANK3May 26, 2020
RNASEH2B1May 26, 2020
RRM2B2May 26, 2020
SCAMP41Jun 18, 2019
SCO21May 26, 2020
SERAC13May 26, 2020
SETX1May 26, 2020
SLC19A11May 26, 2020
SLC19A31Jun 18, 2019
SLC25A201Jun 18, 2019
SLC26A31Jun 18, 2019
SLC27A32May 26, 2020
SLC29A31May 26, 2020
SLC2A21May 26, 2020
SMN11May 26, 2020
SMN21May 26, 2020
SMPD12Jun 18, 2019
SUOX1May 26, 2020
TBCE1Jun 18, 2019
TCTN23May 26, 2020
TMEM2361May 26, 2020
TYR1Jun 18, 2019
UNC802May 26, 2020
VPS13B1Jun 18, 2019
XRCC21May 26, 2020
XRCC41May 26, 2020
ZNF261May 26, 2020
ZNF842May 26, 2020

Condition

NameSubmissionsLast Updated
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome3May 26, 2020
Acrocallosal syndrome1May 26, 2020
Aicardi Goutieres syndrome 21May 26, 2020
BH4-deficient hyperphenylalaninemia A3May 26, 2020
Bare lymphocyte syndrome 23May 26, 2020
Biotin-responsive basal ganglia disease1Jun 18, 2019
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency1May 26, 2020
Carnitine acylcarnitine translocase deficiency1Jun 18, 2019
Cohen syndrome1Jun 18, 2019
Congenital secretory diarrhea, chloride type1Jun 18, 2019
Deficiency of hydroxymethylglutaryl-CoA lyase1Jun 18, 2019
Dihydropteridine reductase deficiency1May 26, 2020
Distal arthrogryposis type 5D2May 26, 2020
Epileptic encephalopathy, early infantile, 371May 26, 2020
Fanconi-Bickel syndrome1May 26, 2020
Fructose-biphosphatase deficiency1May 26, 2020
Galactosylceramide beta-galactosidase deficiency1Jun 18, 2019
Glucocorticoid deficiency with achalasia1Jun 18, 2019
Glutaric aciduria, type 11Jun 18, 2019
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1Jun 18, 2019
Glycogen storage disease, type II2May 26, 2020
Glycogen storage disease, type VI1Jun 18, 2019
Hyaline fibromatosis syndrome4May 26, 2020
Hydrocephalus, congenital, 2, with or without brain or eye anomalies1May 26, 2020
Hyperphosphatasia with mental retardation syndrome 41May 26, 2020
Hypomyelinating leukodystrophy 71May 26, 2020
Hypoparathyroidism-retardation-dysmorphism syndrome1Jun 18, 2019
Hypotonia, infantile, with psychomotor retardation and characteristic facies 22May 26, 2020
Isolated sulfite oxidase deficiency1May 26, 2020
Joubert syndrome 53May 26, 2020
Lipodystrophy, congenital generalized, type 41May 26, 2020
Maple syrup urine disease1May 26, 2020
Meckel syndrome type 612May 26, 2020
Meckel syndrome, type 41May 26, 2020
Mental retardation, autosomal recessive 361Jun 18, 2019
Mental retardation, autosomal recessive 471May 26, 2020
Merosin deficient congenital muscular dystrophy1Jun 18, 2019
Methylmalonic acidemia with homocystinuria cblD1May 26, 2020
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency6May 26, 2020
Microcephalic osteodysplastic primordial dwarfism type II2May 26, 2020
Microcephaly-micromelia syndrome1May 26, 2020
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy2May 26, 2020
Mucopolysaccharidosis type 71Dec 4, 2018
Mucopolysaccharidosis, MPS-IV-A1May 26, 2020
Multiple mitochondrial dysfunctions syndrome 41Jun 18, 2019
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12Jun 18, 2019
Myasthenic syndrome, congenital, 191May 26, 2020
Myopathy with extrapyramidal signs1May 26, 2020
Navajo neurohepatopathy1Jun 18, 2019
Neuronal ceroid lipofuscinosis 51May 26, 2020
Niemann-Pick disease type C11May 26, 2020
Niemann-Pick disease, type A1Jun 18, 2019
Niemann-Pick disease, type B1Jun 18, 2019
Osteogenesis imperfecta type 82May 26, 2020
Osteogenesis imperfecta type III1May 26, 2020
Osteogenesis imperfecta with normal sclerae, dominant form1May 26, 2020
Phenylketonuria1May 26, 2020
Pierson syndrome1May 26, 2020
Primary autosomal recessive microcephaly 81May 26, 2020
Progressive familial intrahepatic cholestasis 33May 26, 2020
Propionic acidemia2May 26, 2020
Pyknodysostosis3May 26, 2020
Pyruvate carboxylase deficiency2May 26, 2020
Recessive dystrophic epidermolysis bullosa4May 26, 2020
Schwartz-Jampel syndrome2May 26, 2020
Short stature, microcephaly, and endocrine dysfunction2May 26, 2020
Spastic paraplegia 50, autosomal recessive2May 26, 2020
Sphingolipid activator protein 1 deficiency1Jun 18, 2019
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21May 26, 2020
Tyrosinase-negative oculocutaneous albinism1Jun 18, 2019
Very long chain acyl-CoA dehydrogenase deficiency1May 26, 2020
Warburg micro syndrome 21May 26, 2020
not specified57May 26, 2020
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