Paediatric pseudo-obstruction syndrome
Gene: C17orf107
The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' 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: C17orf107 [CHRNE] is associated with congenital myasthenic syndromes, however I could not find clear evidence of intestinal disturbance and therefore recommending a Red gene rating at this time.Created: 21 Dec 2022, 10:42 a.m. | Last Modified: 21 Dec 2022, 10:42 a.m.
Panel Version: 0.40
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: chromosome 17 open reading frame 107.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
Congenital myasthenia; cholinergic receptors
Publications
Publications for gene: C17orf107 were set to
Phenotypes for gene: C17orf107 were changed from to Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809; Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931
Gene: c17orf107 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: C17orf107 was changed from to BIALLELIC, autosomal or pseudoautosomal
gene: C17orf107 was added gene: C17orf107 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: C17orf107 was set to