Paediatric pseudo-obstruction syndrome
Gene: CHRNE
The rating of this gene has been updated to Red and the mode of inheritance set to 'BOTH monoallelic and 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: 0.41
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: CHRNE were set to
Phenotypes for gene: CHRNE 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
Mode of inheritance for gene: CHRNE was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: chrne has been classified as Red List (Low Evidence).
gene: CHRNE was added gene: CHRNE was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: CHRNE was set to