Bilateral congenital or childhood onset cataracts
Gene: MYH9EnsemblGeneIds (GRCh38): ENSG00000100345
EnsemblGeneIds (GRCh37): ENSG00000100345
OMIM: 160775, Gene2Phenotype
MYH9 is in 14 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Fechtner syndrome
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Is on the Manchester congenital cataracts gene panel. It is a confirmed DD gene for Epstein syndrome and for Fechtner syndrome (include cataract as a phenotype)Created: 29 Apr 2016, 12:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epstein syndrome, Fechtner syndrome
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Epstein syndrome
- Fechtner syndrome
- OMIM
- 160775
- Clinvar variants
- Variants in MYH9
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Unexplained kidney failure in young people
- Bleeding and platelet disorders
- DDG2P
- Structural eye disease
- Haematuria
- Monogenic hearing loss
- Inherited bleeding disorders
- Fetal anomalies
- Proteinuric renal disease
- COVID-19 research
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MYH9 were set to Epstein syndrome; Fechtner syndrome
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MYH9 were set to Epstein syndrome, Fechtner syndrome
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MYH9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()MYH9 was added to Cataractspanel. Sources: UKGTN