WDR45 Chromosome X

WD repeat domain 45
174 variants 174 Health Risk

Upload your DNA to see your personal genotypes for variants in WDR45.

What This Gene Does
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"WD repeat domain containing|WIPI family"
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000196998
Associated Conditions (19)
Neurodegeneration with brain iron accumulation 5
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
Intellectual disability
X-linked cerebral-cerebellar-coloboma syndrome syndrome
Seizure
Autism
Global developmental delay
Optic atrophy 2
WDR45-related disorder
Dystonic disorder
Basal ganglia calcification
Developmental disorder
See cases
6 conditions
Oculocutaneous albinism type 7
Neurodegeneration with brain iron accumulation
Key Variants
RS1057521933
Conflicting classifications of pathogenicity
Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
Health Risk
RS139837168
Conflicting classifications of pathogenicity
Neurodegeneration with brain iron accumulation 5, Inborn genetic diseases, Neurodegeneration with brain iron accumulation 5
Health Risk
RS1557083979
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1569523500
Conflicting classifications of pathogenicity
Thyroid cancer, nonmedullary, 1
Health Risk
RS1602537729
Conflicting classifications of pathogenicity
Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
Health Risk
RS1602537958
Conflicting classifications of pathogenicity
Intellectual disability, Neurodegeneration with brain iron accumulation 5, Intellectual disability
Health Risk
RS187601452
Conflicting classifications of pathogenicity
Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
Health Risk
RS192312429
Conflicting classifications of pathogenicity
Neurodegeneration with brain iron accumulation 5, Inborn genetic diseases, Neurodegeneration with brain iron accumulation 5
Health Risk
RS201177026
Conflicting classifications of pathogenicity
Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
Health Risk
RS201716815
Conflicting classifications of pathogenicity
Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
Health Risk
RS2065045234
Conflicting classifications of pathogenicity
Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
Health Risk
RS2065048490
Conflicting classifications of pathogenicity
Intellectual disability, Neurodegeneration with brain iron accumulation 5, Intellectual disability
Health Risk
All Variants (174)
RSID Category Clinical Significance Conditions
RS1057521933 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS139837168 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Inborn genetic diseases, Neurodegeneration with brain iron accumulation 5
RS1557083979 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1569523500 Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary, 1
RS1602537729 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1602537958 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Neurodegeneration with brain iron accumulation 5, Intellectual disability
RS187601452 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS192312429 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Inborn genetic diseases, Neurodegeneration with brain iron accumulation 5
RS201177026 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS201716815 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065045234 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065048490 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Neurodegeneration with brain iron accumulation 5, Intellectual disability
RS2147814409 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147815135 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147817901 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520260197 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520261326 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Inborn genetic diseases, Neurodegeneration with brain iron accumulation 5
RS2520261349 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520261481 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS369310756 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS781794138 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS782329150 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Inborn genetic diseases, Neurodegeneration with brain iron accumulation 5
RS782557596 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5, Inborn genetic diseases
RS782631059 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS782723092 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Inborn genetic diseases, Neurodegeneration with brain iron accumulation 5
RS864309661 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, X-linked cerebral-cerebellar-coloboma syndrome syndrome, Neurodegeneration with brain iron accumulation 5
RS1064794744 Health Risk Likely pathogenic —
RS1197831794 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1557084127 Health Risk Likely pathogenic —
RS1569523436 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1569523468 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1569523502 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1602538023 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1602538385 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1602539322 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1602540060 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1602540235 Health Risk Likely pathogenic Seizure, Autism, Global developmental delay
RS1602540295 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1602540331 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065026878 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065027151 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065032591 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065045650 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2065045729 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Inborn genetic diseases, Neurodegeneration with brain iron accumulation 5
RS2147814944 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147815172 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147815209 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147815304 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147816288 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147817628 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
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