MYO1H

myosin IH
OMIM: 614636, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red MYO1H in Familial dysautonomia Version 1.17	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482
Red MYO1H in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.56 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Red Phenotypes ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482
Red MYO1H in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Red Phenotypes ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482
Red MYO1H in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.523 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Red Phenotypes ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482