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| Mitochondrial disorders v2.15 | SLC44A1 | Arina Puzriakova Mode of inheritance for gene: SLC44A1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.453 | SLC44A1 | Sarah Leigh Phenotypes for gene: SLC44A1 were changed from mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy to mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.453 | SLC44A1 | Sarah Leigh Phenotypes for gene: SLC44A1 were changed from to mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.453 | SLC44A1 | Sarah Leigh Publications for gene: SLC44A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | SLC44A1 | Sarah Leigh reviewed gene: SLC44A1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 28097321; Phenotypes: mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.422 | SLC44A1 |
Sarah Leigh gene: SLC44A1 was added gene: SLC44A1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: SLC44A1 was set to |
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