1. Genes and Genomic Entities
  2. SHROOM4

SHROOM4

shroom family member 4
OMIM: 300579, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red SHROOM4 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Red
  • Literature
Phenotypes
  • Stocco dos Santos X-linked mental retardation syndrome, 300434
  • Abnormal corpus callosum
Amber SHROOM4 in Intellectual disability


Level 2: Developmental disorders
Version 9.285
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
    • Stocco dos Santos X-linked mental retardation syndrome, 300434
    • Intellectual disability