GTPBP1

GTP binding protein 1
OMIM: 602245, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green GTPBP1 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM# 620888

Green GTPBP1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM# 620888

Green GTPBP1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM# 620888