C17orf107

chromosome 17 open reading frame 107
Gene2Phenotype

1 panel

Panel

Reviews

Mode of inheritance

Details

Red C17orf107 in Paediatric pseudo-obstruction syndrome

Version 1.5
Latest signed off version: v1.0 (22 Mar 2023)

review

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert list

Phenotypes

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