WDR35

WD repeat domain 35
OMIM: 613602, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green WDR35 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

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

Green WDR35 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.54

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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 1.68

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

Green WDR35 in Mendeliome


Version 1.1902

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

Green WDR35 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.276

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    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 1.15

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    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 1.22

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CilioNephronop v38.1.0
    • Victorian Clinical Genetics Services
    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 0.285

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • NHS GMS
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    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 0.86

    review 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

    Green WDR35 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

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

    Red WDR35 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Cranioectodermal dysplasia

    Amber WDR35 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

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

    Green WDR35 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
    Phenotypes
    • Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091
    • MONDO:0013569

    Green WDR35 in Prepair 1000+


    Level 2: Screening
    Version 1.9

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

    Red WDR35 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Cranioectodermal dysplasia