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Mendeliome v2.0 MYH1 Gene migrated from ENSG00000109061 to ENSG00000109061 (gene set migration)
Mendeliome v1.4941 MYH1 Lucy Spencer edited their review of gene: MYH1: Changed publications: 33755318, 39482536, 39687948, 28074849, 32848021
Mendeliome v1.4941 MYH1 Lucy Spencer Phenotypes for gene: MYH1 were changed from rhabdomyolysis, MONDO:0005290 to Hearing loss, autosomal recessive MONDO:0019588, MYH1-related; rhabdomyolysis, susceptibility to MONDO:0979250, MYH1-related
Mendeliome v1.4940 MYH1 Lucy Spencer Publications for gene: MYH1 were set to 33755318
Mendeliome v1.4939 MYH1 Lucy Spencer Classified gene: MYH1 as Green List (high evidence)
Mendeliome v1.4939 MYH1 Lucy Spencer Gene: myh1 has been classified as Green List (High Evidence).
Mendeliome v1.4938 MYH1 Lucy Spencer reviewed gene: MYH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39482536, 33755318, 28074849, 32848021; Phenotypes: Hearing loss, autosomal recessive MONDO:0019588, MYH1-related, rhabdomyolysis, susceptibility to MONDO:0979250, MYH1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1842 MYH10 Zornitza Stark Phenotypes for gene: MYH10 were changed from Microcephaly; Intellectual Disability to AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465)
Mendeliome v0.14278 MYH14 Zornitza Stark Marked gene: MYH14 as ready
Mendeliome v0.14278 MYH14 Zornitza Stark Gene: myh14 has been classified as Green List (High Evidence).
Mendeliome v0.14278 MYH14 Zornitza Stark Phenotypes for gene: MYH14 were changed from to Deafness, autosomal dominant 4A, MIM# 600652; Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369
Mendeliome v0.14277 MYH14 Zornitza Stark Publications for gene: MYH14 were set to
Mendeliome v0.14276 MYH14 Zornitza Stark Mode of inheritance for gene: MYH14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14275 MYH14 Zornitza Stark reviewed gene: MYH14: Rating: GREEN; Mode of pathogenicity: None; Publications: 15015131, 25719458, 31045651, 28221712, 34681017, 21480433, 31653586, 31631044, 31231018; Phenotypes: Deafness, autosomal dominant 4A, MIM# 600652, Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10554 MYH1 Seb Lunke Marked gene: MYH1 as ready
Mendeliome v0.10554 MYH1 Seb Lunke Gene: myh1 has been classified as Red List (Low Evidence).
Mendeliome v0.10554 MYH1 Seb Lunke Phenotypes for gene: MYH1 were changed from recurrent rhabdomyolysis to rhabdomyolysis, MONDO:0005290
Mendeliome v0.10553 MYH1 Seb Lunke Classified gene: MYH1 as Red List (low evidence)
Mendeliome v0.10553 MYH1 Seb Lunke Gene: myh1 has been classified as Red List (Low Evidence).
Mendeliome v0.10552 MYH1 Ain Roesley gene: MYH1 was added
gene: MYH1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MYH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYH1 were set to 33755318
Phenotypes for gene: MYH1 were set to recurrent rhabdomyolysis
Penetrance for gene: MYH1 were set to unknown
Review for gene: MYH1 was set to RED
gene: MYH1 was marked as current diagnostic
Added comment: 18 yr old male from a consaguineous family.
WES was performed and a homozygous c.1295A>C:p.K432T was found. Only 1 het in gnomad v2 and v3.
no protein functional work was done
Sources: Literature
Mendeliome v0.9638 MYH10 Zornitza Stark Marked gene: MYH10 as ready
Mendeliome v0.9638 MYH10 Zornitza Stark Gene: myh10 has been classified as Green List (High Evidence).
Mendeliome v0.9638 MYH10 Zornitza Stark Classified gene: MYH10 as Green List (high evidence)
Mendeliome v0.9638 MYH10 Zornitza Stark Gene: myh10 has been classified as Green List (High Evidence).
Mendeliome v0.9616 MYH10 Krithika Murali gene: MYH10 was added
gene: MYH10 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYH10 were set to 24825879; 24901346; 25356899; 22495309; 25003005
Phenotypes for gene: MYH10 were set to Microcephaly; Intellectual Disability
Review for gene: MYH10 was set to GREEN
Added comment: De novo variants were identified in 5 unrelated individuals with moderate-severe ID and developmental delay.

Other reported phenotypic features include microcephaly (4/5), IUGR/failure to thrive (4/5), cerebral atrophy (3/5), hydrocephalus (2/5), congenital bilateral hip dysplasia (2/5), cerebellar atrophy (1/5), congenital diaphragmatic hernia (1/5), cranial nerve palsy (1/5), nystagmus (1/5), dysplastic kidney (1/5).

Defects in heart development, body wall closure and other birth defects noted in mouse models.
Sources: Expert list, Literature
Mendeliome v0.0 MYH14 Zornitza Stark gene: MYH14 was added
gene: MYH14 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYH14 was set to Unknown