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| Paediatric pseudo-obstruction syndrome v0.216 | SDHA | Achchuthan Shanmugasundram commented on gene: SDHA: 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 v0.210 | SDHA | Arina Puzriakova Phenotypes for gene: SDHA were changed from to Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.209 | SDHA | Arina Puzriakova Mode of inheritance for gene: SDHA was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.128 | SDHA | Achchuthan Shanmugasundram edited their review of gene: SDHA: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.128 | SDHA | Achchuthan Shanmugasundram commented on gene: SDHA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | SDHA | Eleanor Williams reviewed gene: SDHA: 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 | SDHA |
Eleanor Williams gene: SDHA was added gene: SDHA was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: SDHA was set to |
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