Skeletal dysplasia

Gene: MYO1H

Red List (low evidence)

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

Red List (low evidence)

Single family reported with three affected children, homozygous LoF variant.
Sources: Literature

Created: 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

• 28779001