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| Paediatric pseudo-obstruction syndrome v0.216 | C17orf107 | Achchuthan Shanmugasundram reviewed gene: C17orf107: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.45 | C17orf107 | Arina Puzriakova Publications for gene: C17orf107 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.44 | C17orf107 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.41 | CHRNE | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.40 | C17orf107 | Arina Puzriakova Classified gene: C17orf107 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.40 | C17orf107 | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.40 | C17orf107 | Arina Puzriakova Gene: c17orf107 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.39 | C17orf107 | Arina Puzriakova Mode of inheritance for gene: C17orf107 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | C17orf107 | Eleanor Williams reviewed gene: C17orf107: Rating: ; Mode of pathogenicity: ; Publications: 30663199; Phenotypes: Congenital myasthenia, cholinergic receptors; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | C17orf107 |
Eleanor Williams 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 |
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