1. Genes and Genomic Entities
  2. SHROOM4

SHROOM4

shroom family member 4
OMIM: 300579, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green SHROOM4 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.5
Latest signed off version: v8.0 (12 Aug 2026)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Abnormal corpus callosum
  • congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
Tags
  • gene-checked
Amber SHROOM4 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 9.73
Latest signed off version: v9.56 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • epilepsy, MONDO:0005027
    Tags
    • watchlist
    Amber SHROOM4 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.26
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • X-linked intellectual disability, Stocco dos Santos type, MONDO:0010325
    Tags
    • disputed