GFRA1

GDNF family receptor alpha 1
OMIM: 601496, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber GFRA1 in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Alder Hey - Erasmus MC
Phenotypes
  • susceptibility to Hirschsprung disease
Tags
  • watchlist
Amber GFRA1 in Fetal anomalies


Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Renal agenesis
Amber GFRA1 in Paediatric pseudo-obstruction syndrome


Version 1.5
Latest signed off version: v1.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Susceptibility to Hirschsprung disease, MONDO:0100179
Tags
  • watchlist