Microcephaly
Gene: MYH10EnsemblGeneIds (GRCh38): ENSG00000133026
EnsemblGeneIds (GRCh37): ENSG00000133026
OMIM: 160776, Gene2Phenotype
MYH10 is in 4 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
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, LiteratureCreated: 7 Nov 2021, 11:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microcephaly; Intellectual Disability
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Expert list
- Phenotypes
-
- AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465)
- OMIM
- 160776
- Clinvar variants
- Variants in MYH10
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MYH10 were changed from Microcephaly; Intellectual Disability to AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465)
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myh10 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myh10 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: MYH10 was added gene: MYH10 was added to Microcephaly. 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