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 1.11

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


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

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


Level 2: Gastrohepatology
Version 2.5
Latest signed off version: v2.0 (30 Apr 2025)

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