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| Familial dysautonomia v1.15 | MYO1H | Sarah Leigh reviewed gene: MYO1H: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial dysautonomia v1.15 | MYO1H | Sarah Leigh Phenotypes for gene: MYO1H were changed from Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction, MIM#619482 to ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial dysautonomia v1.14 | MYO1H | Sarah Leigh Classified gene: MYO1H as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial dysautonomia v1.14 | MYO1H | Sarah Leigh Gene: myo1h has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial dysautonomia v1.13 | MYO1H |
Zornitza Stark gene: MYO1H was added gene: MYO1H was added to Familial dysautonomia. Sources: Literature Mode of inheritance for gene: MYO1H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO1H were set to 28779001 Phenotypes for gene: MYO1H were set to Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction, MIM#619482 Review for gene: MYO1H was set to RED Added comment: Single family reported with three affected children, homozygous LoF variant. Sources: Literature |
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