WDR11 Chromosome 10
WD repeat domain 11
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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 is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
10q26.12
Ensembl
ENSG00000120008
Associated Conditions (8)
Hypogonadotropic hypogonadism 14 with or without anosmia
See cases
Inborn genetic diseases
WDR11-related disorder
Microcephaly
Intellectual developmental disorder
autosomal recessive 78
Hypogonadotropic hypogonadism 14 with anosmia
Key Variants
RS139007744
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 14 with or without anosmia, See cases, Hypogonadotropic hypogonadism 14 with or without anosmia
Health Risk
RS150630318
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS151162552
Conflicting classifications of pathogenicity
Health Risk
RS34602786
Conflicting classifications of pathogenicity
Health Risk
RS368846415
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 14 with or without anosmia, Inborn genetic diseases, Hypogonadotropic hypogonadism 14 with or without anosmia
Health Risk
RS61761620
Conflicting classifications of pathogenicity
WDR11-related disorder, WDR11-related disorder
Health Risk
RS758182867
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1847196520
Likely pathogenic
Hypogonadotropic hypogonadism 14 with or without anosmia, Hypogonadotropic hypogonadism 14 with or without anosmia
Health Risk
RS2133718612
Likely pathogenic
Hypogonadotropic hypogonadism 14 with or without anosmia, Hypogonadotropic hypogonadism 14 with or without anosmia
Health Risk
RS2493391411
Likely pathogenic
Health Risk
RS775474626
Likely pathogenic
WDR11-related disorder, WDR11-related disorder
Health Risk
RS1238508616
Pathogenic
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139007744 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 14 with or without anosmia, See cases, Hypogonadotropic hypogonadism 14 with or without anosmia |
| RS150630318 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS151162552 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS34602786 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368846415 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 14 with or without anosmia, Inborn genetic diseases, Hypogonadotropic hypogonadism 14 with or without anosmia |
| RS61761620 | Health Risk | Conflicting classifications of pathogenicity | WDR11-related disorder, WDR11-related disorder |
| RS758182867 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1847196520 | Health Risk | Likely pathogenic | Hypogonadotropic hypogonadism 14 with or without anosmia, Hypogonadotropic hypogonadism 14 with or without anosmia |
| RS2133718612 | Health Risk | Likely pathogenic | Hypogonadotropic hypogonadism 14 with or without anosmia, Hypogonadotropic hypogonadism 14 with or without anosmia |
| RS2493391411 | Health Risk | Likely pathogenic | — |
| RS775474626 | Health Risk | Likely pathogenic | WDR11-related disorder, WDR11-related disorder |
| RS1238508616 | Health Risk | Pathogenic | — |
| RS1252726486 | Health Risk | Pathogenic | Microcephaly, Intellectual developmental disorder, autosomal recessive 78 |
| RS2133748193 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 78, Microcephaly |
| RS2493271322 | Health Risk | Pathogenic | — |
| RS318240761 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 14 with anosmia, Hypogonadotropic hypogonadism 14 with anosmia |
| RS747938475 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 78, Microcephaly |
| RS760973100 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly, Intellectual developmental disorder, autosomal recessive 78 |