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| Paediatric pseudo-obstruction syndrome v0.216 | SURF1 | Achchuthan Shanmugasundram commented on gene: SURF1: 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 v0.211 | SURF1 | Arina Puzriakova Mode of inheritance for gene: SURF1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.148 | SURF1 | Achchuthan Shanmugasundram Phenotypes for gene: SURF1 were changed from to Mitochondrial complex IV deficiency, nuclear type 1, OMIM:220110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.147 | SURF1 | Achchuthan Shanmugasundram edited their review of gene: SURF1: Changed phenotypes to: Mitochondrial complex IV deficiency, nuclear type 1, OMIM:220110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.147 | SURF1 | Achchuthan Shanmugasundram reviewed gene: SURF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | SURF1 | Eleanor Williams reviewed gene: SURF1: 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 | SURF1 |
Eleanor Williams gene: SURF1 was added gene: SURF1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: SURF1 was set to |
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