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  2. Central Hypoventilation
  3. MYO1H
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Central Hypoventilation

Gene: MYO1H

Red List (low evidence)
MYO1H (myosin IH)
EnsemblGeneIds (GRCh38): ENSG00000174527
EnsemblGeneIds (GRCh37): ENSG00000174527
OMIM: 614636, Gene2Phenotype
MYO1H is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported with three affected children, homozygous LoF variant.
Sources: Literature
Created: 27 Aug 2021, 1:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction, MIM#619482

Publications

Created: 27 Aug 2021, 1:07 a.m.

Panel version: 1.1

Details

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

History Filter Activity

27 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Aug 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYO1H was added gene: MYO1H was added to Central Hypoventilation. 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