Paediatric pseudo-obstruction syndrome
Gene: GFRA1
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
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
Phenotypes for gene: GFRA1 were changed from to Susceptibility to Hirschsprung disease, MONDO:0100179
Publications for gene: GFRA1 were set to
Mode of inheritance for gene: GFRA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: gfra1 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: GFRA1.
gene: GFRA1 was added gene: GFRA1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: GFRA1 was set to