Paediatric pseudo-obstruction syndrome

Gene: GFRA1

I don't know

The rating of this gene has been updated to Amber and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.

Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.

Panel Version: 0.216

Added watchlist tag as in panel 63 to be notified of additional cases.

Created: 21 Dec 2022, 10:54 a.m. | Last Modified: 21 Dec 2022, 10:55 a.m.

Panel Version: 0.47

Comment on classification of this gene: This gene should be rated AMBER as curated in Familial Hirschsprung Disease panel (https://panelapp.genomicsengland.co.uk/panels/63/gene/GFRA1/) There is only limited literature evidence to support a causation role in Hirschsprung disease.

This gene has not yet been associated with Susceptibility to Hirschsprung disease in OMIM.

Created: 21 Dec 2022, 10:54 a.m. | Last Modified: 21 Dec 2022, 10:55 a.m.

Panel Version: 0.47

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Susceptibility to Hirschsprung disease, MONDO:0100179

Publications

• 28543993
• 27370713
• 9545641
• 17507417
• 12624147

Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Genes involved in Hirschsprung disease (HSCR) in humans and models of megacolon. Protein function: GDNF family receptor alpha 1.

Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.

Panel Version: 0.2

Mode of inheritance
Unknown

Phenotypes
Effect on ENS development

Publications

• 30663199