Arthrogryposis
Gene: MYF6EnsemblGeneIds (GRCh38): ENSG00000111046
EnsemblGeneIds (GRCh37): ENSG00000111046
OMIM: 159991, Gene2Phenotype
MYF6 is in 2 panels
1 review
Alice Gardham (Genomics England)
Only reported in one patient with myopathy -no arthrogryposisCreated: 4 Jan 2017, 1:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, centronuclear, 3 614408
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Centronuclear Myopathy, Dominant
- Myopathy, centronuclear, 3, 614408
- OMIM
- 159991
- Clinvar variants
- Variants in MYF6
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Created
Ellen McDonagh (Genomics England Curator)MYF6 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)MYF6 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen