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Severe Paediatric Disorders

Gene: MYH8

Green List (high evidence)

MYH8 (myosin heavy chain 8)
EnsemblGeneIds (GRCh38): ENSG00000133020
EnsemblGeneIds (GRCh37): ENSG00000133020
OMIM: 160741, Gene2Phenotype
MYH8 is in 6 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: MYH8; Recommended initial gene rating: Green List (high evidence); Phenotypes: Carney complex variant, 608837 (3) | Trismus-pseudocamptodactyly syndrome, 158300 (3); Mode of inheritance: ND | Autosomal dominant
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
  • Carney complex variant, 608837
  • Trismus-pseudocamptodactyly syndrome, 158300
OMIM
160741
Clinvar variants
Variants in MYH8
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 MYH8 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inhe