GPKOW

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green GPKOW in Mendeliome


Version 1.3837

3 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • syndromic disease, MONDO:0002254, GPKOW-related

Green GPKOW in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.381

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • syndromic disease, MONDO:0002254, GPKOW-related

Green GPKOW in Fetal anomalies


Version 1.489

3 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • syndromic disease, MONDO:0002254, GPKOW-related