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  2. Ectodermal Dysplasia
  3. WDR35
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Ectodermal Dysplasia

Gene: WDR35

Green List (high evidence)
WDR35 (WD repeat domain 35)
EnsemblGeneIds (GRCh38): ENSG00000118965
EnsemblGeneIds (GRCh37): ENSG00000118965
OMIM: 613602, Gene2Phenotype
WDR35 is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cranioectodermal dysplasia 2, MIM#613610; MONDO:0013323; Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091; MONDO:0013569

Publications

Created: 7 Apr 2021, 8:28 p.m.
Last Modified: 7 Apr 2021, 8:28 p.m.
Panel version: Imported from Mendeliome panel version 0.7049

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

No clear genotype-phenotype relationship though there is a trend of PTCs ie. more severe, are associated with short rib thoracic dysplasia while missense are for craniodermal dysplasia (OMIM)
Created: 31 Jan 2020, 3:01 a.m. | Last Modified: 31 Jan 2020, 3:01 a.m.
Panel Version: 0.1069

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly

Created: 31 Jan 2020, 3:01 a.m.
Last Modified: 31 Jan 2020, 3:01 a.m.
Panel version: Imported from Mendeliome panel version 0.1069

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5
OMIM
613602
Clinvar variants
Variants in WDR35
Penetrance
None
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: WDR35 was added gene: WDR35 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR35 were set to Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5