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 6.192
Latest signed off version: v6.0 (30 Apr 2025)

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 8.192
Latest signed off version: v8.0 (30 Apr 2025)

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
    • Q2_26_promote_green
    • Q2_26_expert_review
    Amber SHROOM4 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 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