WDR45, WD repeat domain 45, 11152

N. diseases: 72; N. variants: 31
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907329
rs387907329
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		A 0.700 CausalMutation CLINVAR Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants. 29981852 2019
dbSNP: rs387907329
rs387907329
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		A 0.700 CausalMutation CLINVAR Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45. 29171013 2018
dbSNP: rs387907329
rs387907329
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		A 0.700 CausalMutation CLINVAR Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report. 28932395 2017
dbSNP: rs387907329
rs387907329
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		A 0.700 CausalMutation CLINVAR β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. 23687123 2013
dbSNP: rs387907329
rs387907329
Entrez Id: 11152;11230
Gene Symbol: WDR45;PRAF2
WDR45;PRAF2
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		A 0.700 CausalMutation CLINVAR Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 23176820 2012