WDR81

WD repeat domain 81
OMIM: 614218, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Red WDR81 in Hydrocephalus


Level 2: Neurology
Version 5.15
Latest signed off version: v5.14 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Literature
Phenotypes
  • congenital hydrocephalus
Tags
  • watchlist
Green WDR81 in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.23
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
    • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
    Green WDR81 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.345

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
    Green WDR81 in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.87

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Literature
    • UKGTN
    Phenotypes
    • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
    Red WDR81 in Neurodegenerative disorders, adult onset


    Level 2: Neurology
    Version 9.5
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
    Green WDR81 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hydrocephalus, congenital, 3, with brain anomalies, OMIM:617967
    • Hydrocephalus, congenital, 3, with brain anomalies, MONDO:0054794
    Red WDR81 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 610185
    Green WDR81 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • cerebellar ataxia, intellectual disability and quadrupedal locomotion
    • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
    Green WDR81 in Hereditary ataxia, adult onset


    Level 2: Neurology
    Version 9.5
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
    • Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185
    • Congenital hydrocephalus 3 with brain anomalies, 617967
    Red WDR81 in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH