WDR35:Ensemblv115

WD repeat domain 35
OMIM: 613602, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green WDR35 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 1.0

1 review Unknown
Sources
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green WDR35 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Cranioectodermal dysplasia 2, MIM#613610
  • MONDO:0013323
  • Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091
  • MONDO:0013569

Green WDR35 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Cranioectodermal dysplasia 2, MIM# 613610

Green WDR35 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Cranioectodermal dysplasia 2, MIM#613610
  • MONDO:0013323
  • Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091
  • MONDO:0013569

Green WDR35 in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy


Level 2: Skeletal disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091
  • MONDO:0013569

Green WDR35 in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • KidGen_CilioNephronop v38.1.0
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091
  • MONDO:0013569
  • Cranioectodermal dysplasia 2, MIM# 613610

Green WDR35 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • NHS GMS
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Cranioectodermal dysplasia 2 613610
  • Short-rib thoracic dysplasia 7 with or without polydactyly 614091

Green WDR35 in Ectodermal Dysplasia


Level 2: Dermatological disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5

Green WDR35 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3)

Amber WDR35 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
  • SRTD7

Green WDR35 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Cranioectodermal dysplasia 2 MIM#613610
  • Short-rib thoracic dysplasia 7 with or without polydactyly MIM#614091