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| Pyruvate dehydrogenase (PDH) deficiency v1.26 | SLC25A19 | Sarah Leigh Phenotypes for gene: SLC25A19 were changed from MICROCEPHALY, AMISH TYPE, 607196; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710 to MICROCEPHALY, AMISH TYPEOMIM:607196; Amish lethal microcephaly MONDO:0011790; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) OMIM:613710; progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.3 | SLC25A19 | Ivone Leong reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710, MICROCEPHALY, AMISH TYPE, 607196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.2 | SLC25A19 |
Ivone Leong gene: SLC25A19 was added gene: SLC25A19 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A19 were set to MICROCEPHALY, AMISH TYPE, 607196; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710 |
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