GPKOW

G-patch domain and KOW motifs
OMIM: 301003, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber GPKOW in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • PAGE Additional Gene List
Phenotypes
  • microcephaly with intrauterine growth restriction
Tags
  • watchlist
Amber GPKOW 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • PAGE Additional Gene List
Phenotypes
  • microcephaly with intrauterine growth restriction
Tags
  • Q2_25_ promote_green
Amber GPKOW in Paediatric disorders - additional genes


Level 2: Developmental disorders
Version 7.31
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Amber
    • PAGE Additional Gene List
    Phenotypes
    • microcephaly with intrauterine growth restriction
    Tags
    • Q3_25_promote_green