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Severe Paediatric Disorders

Gene: MYO7A

Green List (high evidence)

MYO7A (myosin VIIA)
EnsemblGeneIds (GRCh38): ENSG00000137474
EnsemblGeneIds (GRCh37): ENSG00000137474
OMIM: 276903, Gene2Phenotype
MYO7A is in 12 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MYO7A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Deafness, autosomal dominant 11, 601317 (3) | Deafness, autosomal recessive 2, 600060 (3) | Usher syndrome, type 1B, 276900 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Usher syndrome, type 1B, 276900
  • Deafness, autosomal dominant 11, 601317
  • Deafness, autosomal recessive 2, 600060
OMIM
276903
Clinvar variants
Variants in MYO7A
Penetrance
None
Publications
Panels with this gene

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