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  3. MYO1H
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Familial dysautonomia

Gene: MYO1H

Red List (low evidence)
MYO1H (myosin IH)
EnsemblGeneIds (GRCh38): ENSG00000174527
EnsemblGeneIds (GRCh37): ENSG00000174527
OMIM: 614636, Gene2Phenotype
MYO1H is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

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
Created: 14 Sep 2021, 10:48 a.m.
Last Modified: 14 Sep 2021, 10:48 a.m.
Panel version: 1.15

Zornitza Stark (Australian Genomics)

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

Created: 12 Sep 2021, 5:45 a.m.

Panel version: 1.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482
OMIM
614636
Clinvar variants
Variants in MYO1H
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Sep 2021, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

14 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: myo1h has been classified as Red List (Low Evidence).

12 Sep 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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