WDR35 Chromosome 2
WD repeat domain 35
Upload your DNA to see your personal genotypes for variants in WDR35.
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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010]
Gene Info
Gene Group
"WD repeat domain containing|IFT-A complex"
Locus Type
gene with protein product
Location
2p24.1
Ensembl
ENSG00000118965
Associated Conditions (12)
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
WDR35-related disorder
Inborn genetic diseases
Short-rib thoracic dysplasia 6 with or without polydactyly
Connective tissue disorder
Jeune thoracic dystrophy
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY
Short-rib thoracic dysplasia 7/20 with polydactyly
digenic
Short rib-polydactyly syndrome
Cranioectodermal dysplasia
Key Variants
RS1180620404
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
Health Risk
RS138007924
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, WDR35-related disorder
Health Risk
RS138076014
Conflicting classifications of pathogenicity
Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly, Inborn genetic diseases
Health Risk
RS139352103
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, Inborn genetic diseases
Health Risk
RS1393592663
Conflicting classifications of pathogenicity
Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
Health Risk
RS139543775
Conflicting classifications of pathogenicity
Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly, WDR35-related disorder
Health Risk
RS140308808
Conflicting classifications of pathogenicity
Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly, WDR35-related disorder
Health Risk
RS140753861
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, WDR35-related disorder
Health Risk
RS141118263
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, WDR35-related disorder
Health Risk
RS142103808
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
Health Risk
RS143343508
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
Health Risk
RS144673252
Conflicting classifications of pathogenicity
Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly, Connective tissue disorder
Health Risk
All Variants (105)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS767878828 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS797046099 | Health Risk | Conflicting classifications of pathogenicity | Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly, Inborn genetic diseases |
| RS1276298140 | Health Risk | Likely pathogenic | WDR35-related disorder, WDR35-related disorder |
| RS143550695 | Health Risk | Likely pathogenic | Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2 |
| RS1486662314 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS1553317813 | Health Risk | Likely pathogenic | Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2 |
| RS1558342399 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 7 with or without polydactyly, Short rib-polydactyly syndrome, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS1672702813 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS200140363 | Health Risk | Likely pathogenic | Cranioectodermal dysplasia 2, Cranioectodermal dysplasia 2 |
| RS2527880529 | Health Risk | Likely pathogenic | WDR35-related disorder, WDR35-related disorder |
| RS2527924479 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS2527956878 | Health Risk | Likely pathogenic | Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2 |
| RS267607175 | Health Risk | Likely pathogenic | Cranioectodermal dysplasia 2, Cranioectodermal dysplasia 2 |
| RS371669862 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, Cranioectodermal dysplasia 2 |
| RS397515536 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS745486923 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS754712378 | Health Risk | Likely pathogenic | — |
| RS772534528 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS776631281 | Health Risk | Likely pathogenic | Jeune thoracic dystrophy, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS778613849 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS1050086118 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 7 with or without polydactyly, Short rib-polydactyly syndrome, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS1327489348 | Health Risk | Pathogenic | Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2 |
| RS1348813250 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS1416766008 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS1553313859 | Health Risk | Pathogenic | Cranioectodermal dysplasia 2, Cranioectodermal dysplasia 2 |
| RS1553316926 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS1553324519 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 7 with or without polydactyly, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS1672141593 | Health Risk | Pathogenic | — |
| RS199840434 | Health Risk | Pathogenic | Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly, WDR35-related disorder |
| RS2103399754 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS2103406171 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS2103456695 | Health Risk | Pathogenic | — |
| RS2527652567 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS2527882862 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS2527903495 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS267607174 | Health Risk | Pathogenic | Cranioectodermal dysplasia 2, Cranioectodermal dysplasia 2 |
| RS387907085 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 7 with or without polydactyly, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS397515334 | Health Risk | Pathogenic | Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2 |
| RS397515533 | Health Risk | Pathogenic | Cranioectodermal dysplasia 2, Cranioectodermal dysplasia 2 |
| RS397515534 | Health Risk | Pathogenic | Cranioectodermal dysplasia 2, Cranioectodermal dysplasia 2 |
| RS431905505 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 7 with or without polydactyly, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS746128772 | Health Risk | Pathogenic | Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2 |
| RS758456073 | Health Risk | Pathogenic | — |
| RS766096320 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS767751856 | Health Risk | Pathogenic | Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2 |
| RS867715686 | Health Risk | Pathogenic | Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2 |
| RS886043316 | Health Risk | Pathogenic | — |
| RS1490771127 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS199952377 | Health Risk | Pathogenic/Likely pathogenic | Cranioectodermal dysplasia 2, WDR35-related disorder, Jeune thoracic dystrophy |
| RS2527957063 | Health Risk | Pathogenic/Likely pathogenic | WDR35-related disorder, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly |