Paediatric pseudo-obstruction syndrome

Gene: GDNF

Red List (low evidence)

The rating of this gene has been updated to Red and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' 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

Comment on rating of this gene - This gene should be rated as RED as there are not enough convincing cases (at least 3 unrelated cases) with direct implication of GDNF variants in Hirschsprung disease (HSCR). However, the variants in GDNF are associated with potential susceptibility to HSCR, especially when mutations are present in other genes (e.g. RET).

More information can be found in OMIM (#613711).

Created: 21 Dec 2022, 10:14 a.m. | Last Modified: 21 Dec 2022, 10:14 a.m.

Panel Version: 0.36

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
{Hirschsprung disease, susceptibility to, 3}, OMIM:613711

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: Not given.

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

Panel Version: 0.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Long segment megacolon, HSCR

Publications

• 21858136