Activity
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| Paediatric pseudo-obstruction syndrome v0.216 | NDUFS1 | Achchuthan Shanmugasundram commented on gene: NDUFS1: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.200 | NDUFS1 | Arina Puzriakova Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.199 | NDUFS1 | Arina Puzriakova Mode of inheritance for gene: NDUFS1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.97 | NDUFS1 | Achchuthan Shanmugasundram reviewed gene: NDUFS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | NDUFS1 | Eleanor Williams reviewed gene: NDUFS1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Psychomotor regression, failure to thrive, hypotonia, dystonia, ataxia, peripheral neuropathy, ophthalmoparesis, nystagmus, optic atrophy; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | NDUFS1 |
Eleanor Williams gene: NDUFS1 was added gene: NDUFS1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: NDUFS1 was set to |
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