1. Genes and Genomic Entities
  2. WDR91

WDR91

WD repeat domain 91
OMIM: 616303, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber WDR91 in Malformations of cortical development


Level 2: Neurology
Version 7.58
Latest signed off version: v7.0 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Abnormal brain morphology, HP:0012443
    Tags
    • Q2_26_promote_green
    Green WDR91 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.192
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hygroma
    • Hydrocephaly
    • microcephaly, dysmorphic features, organomegaly, psychomotor delay, hypotonia, sensorineural hearing impairment, visual impairment
    Tags
    • gene-checked
    Amber WDR91 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.397
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Abnormal brain morphology, HP:0012443
    • Neurodevelopmental delay, HP:0012758
    Tags
    • Q2_26_promote_green