Familial dysautonomia
Gene: MYO1H
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen or MONDO. At least one terminating variant reported in three sibs from a single family. One of the sibs died at 11 months of age, the other two were 8 and 15 years at the time of reporting. Not functional studies were performed, but it is predicted that as loss of function effect could result from nonsense-mediated mRNA decay of the transcript (PMID 28779001).Created: 14 Sep 2021, 10:48 a.m. | Last Modified: 14 Sep 2021, 10:48 a.m.
Panel Version: 1.15
Single family reported with three affected children, homozygous LoF variant.
Sources: LiteratureCreated: 12 Sep 2021, 5:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction, MIM#619482
Publications
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
Gene: myo1h has been classified as Red List (Low Evidence).
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