GPKOW

G-patch domain and KOW motifs
OMIM: 301003, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red GPKOW in Mendeliome


Version 1.2302

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • male-lethal microcephaly with intrauterine growth restriction

Red GPKOW in Fetal anomalies


Version 1.313

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • male-lethal microcephaly with intrauterine growth restriction