Congenital muscular dystrophy
Gene: DYSF

DYSF (dysferlin)
EnsemblGeneIds (GRCh38): ENSG00000135636
EnsemblGeneIds (GRCh37): ENSG00000135636
OMIM: 603009, Gene2Phenotype
DYSF is in 7 panels

3 reviews

Arianna Tucci (Genomics England Curator)

I don't know

typically present outside infancy. one patient described with CMD. Not sure it fulfils criteria to be a green gene, but definitely worth following up in a research setting
Created: 26 Jan 2017, 3:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

25821721

Created: 26 Jan 2017, 3:38 p.m.

Panel version: 0.111

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Keep as amber, due to reviewer comments - not enough evidence for the association with CMD at this time.
Created: 27 Jan 2017, 1:53 p.m.

Comment on list classification: It is a green gene on the Limb girdle muscular dystroph version 1.0 gene panel, however as comments by the reviewer suggest, unsure whether this should be included on this panel.
Created: 25 Jan 2017, 12:37 p.m.

Created: 25 Jan 2017, 12:37 p.m.

Panel version: 0.108

Emma Clement (Great Ormond Street Hospital)

I don't know

has been reported in CMD presentation in 2 separate families (ceyhan-birsoy 2015, paradas ) but typically a LGMD presentation with onset outside infancy.
Created: 19 Dec 2016, 11:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768; Miyoshi muscular dystrophy 1, 254130; Limb-Girdle Muscular Dystrophy, Recessive

Created: 19 Dec 2016, 11:47 a.m.

Panel version: 0.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Miyoshi muscular dystrophy 1, OMIM:254130
Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601
Myopathy, distal, with anterior tibial onset, OMIM:606768

OMIM

603009

Clinvar variants

Variants in DYSF

Penetrance

Complete

Publications

25821721

Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 2

Removed Source

Arina Puzriakova (Genomics England Curator)

Source was removed from DYSF.

3 Feb 2023, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DYSF were changed from Muscular dystrophy, limb-girdle, type 2B, 253601; Myopathy, distal, with anterior tibial onset, 606768; Miyoshi muscular dystrophy 1, 254130 to Miyoshi muscular dystrophy 1, OMIM:254130; Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601; Myopathy, distal, with anterior tibial onset, OMIM:606768

27 Jan 2017, Gel status: 2