WDR45 Chromosome X
WD repeat domain 45
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 |
|---|---|---|---|
| RS2065048388 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2147814431 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2147814810 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2147814841 | Health Risk | Pathogenic | — |
| RS2147814859 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2147814875 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2147815120 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2147815446 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2147815668 | Health Risk | Pathogenic | — |
| RS2147816209 | Health Risk | Pathogenic | — |
| RS2147816494 | Health Risk | Pathogenic | — |
| RS2147816498 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2147816654 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2147817375 | Health Risk | Pathogenic | — |
| RS2147817379 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2147817417 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2147817625 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2147817629 | Health Risk | Pathogenic | — |
| RS2147817681 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2520259073 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2520260205 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2520260230 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2520260289 | Health Risk | Pathogenic | Inborn genetic diseases, Neurodegeneration with brain iron accumulation 5, Inborn genetic diseases |
| RS2520260298 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2520260876 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2520261025 | Health Risk | Pathogenic | — |
| RS2520261283 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2520261407 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2520261432 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2520261521 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2520261558 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2520261564 | Health Risk | Pathogenic | — |
| RS2520261696 | Health Risk | Pathogenic | WDR45-related disorder, WDR45-related disorder |
| RS2520262068 | Health Risk | Pathogenic | — |
| RS2520262076 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2520262174 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2520262195 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2520263635 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2520266090 | Health Risk | Pathogenic | Developmental disorder, Developmental disorder |
| RS2520266117 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2520266230 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2520266797 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2520266854 | Health Risk | Pathogenic | Global developmental delay, Global developmental delay |
| RS2520266877 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS2520267314 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2520267360 | Health Risk | Pathogenic | — |
| RS387907328 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, See cases, Neurodegeneration with brain iron accumulation 5 |
| RS387907329 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, 6 conditions, Inborn genetic diseases |
| RS387907330 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS387907331 | Health Risk | Pathogenic | Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |