Distal myopathies

Gene: DYSF

Green List (high evidence)

DYSF (dysferlin)
EnsemblGeneIds (GRCh38): ENSG00000135636
EnsemblGeneIds (GRCh37): ENSG00000135636
OMIM: 603009, Gene2Phenotype
DYSF is in 9 panels

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: mutations in this gene cause a distal myopathy phenotype
Created: 20 Feb 2017, 4:08 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Miyoshi muscular dystrophy 1, 254130

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Miyoshi muscular dystrophy 1, 254130
OMIM
603009
Clinvar variants
Variants in DYSF
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Jan 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

DYSF was created by arianna

31 Jan 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

DYSF was added to Distal myopathiespanel. Sources: Expert Review