Paediatric pseudo-obstruction syndrome
Gene: PROK1
The rating of this gene has been updated to Green 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 list classification: This gene should be rated GREEN as this gene was associated with Hirschsprung disease from four unrelated patients from PMID:21858136. The three variants identified are -45G>A, c.142C>T and c.162G>T.
This gene is not yet associated with any relevant phenotypes in OMIM or G2P.Created: 29 Dec 2022, 10:26 p.m. | Last Modified: 29 Dec 2022, 10:26 p.m.
Panel Version: 0.104
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hirschsprung disease, MONDO:0018309
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: 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
Tag gene-checked tag was added to gene: PROK1.
Phenotypes for gene: PROK1 were changed from to Hirschsprung disease, MONDO:0018309
Publications for gene: PROK1 were set to
Mode of inheritance for gene: PROK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: prok1 has been classified as Green List (High Evidence).
gene: PROK1 was added gene: PROK1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: PROK1 was set to