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Severe Paediatric Disorders

Gene: MYO6

Green List (high evidence)

MYO6 (myosin VI)
EnsemblGeneIds (GRCh38): ENSG00000196586
EnsemblGeneIds (GRCh37): ENSG00000196586
OMIM: 600970, Gene2Phenotype
MYO6 is in 3 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: MYO6; Recommended initial gene rating: Green List (high evidence); Phenotypes: Deafness, autosomal dominant 22, 606346 (3) | Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3) | Deafness, autosomal recessive 37, 607821 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | 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
  • Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346
  • Deafness, autosomal dominant 22, 606346
  • Deafness, autosomal recessive 37, 607821
OMIM
600970
Clinvar variants
Variants in MYO6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene MYO6 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)