Congenital muscular dystrophy

Gene: DYSF

Amber List (moderate evidence)

DYSF (dysferlin)
EnsemblGeneIds (GRCh38): ENSG00000135636
EnsemblGeneIds (GRCh37): ENSG00000135636
OMIM: 603009, Gene2Phenotype
DYSF is in 8 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

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.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2B, 253601
  • Myopathy, distal, with anterior tibial onset, 606768
  • Miyoshi muscular dystrophy 1, 254130
OMIM
603009
Clinvar variants
Variants in DYSF
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Jan 2017, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

27 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jan 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DYSF were set to 25821721

27 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

25 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

25 Jan 2017, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for DYSF were set to Muscular dystrophy, limb-girdle, type 2B, 253601;Myopathy, distal, with anterior tibial onset, 606768; Miyoshi muscular dystrophy 1, 254130

19 Dec 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DYSF was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DYSF was changed to BIALLELIC, autosomal or pseudoautosomal

23 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DYSF was added to Congenital muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DYSF was added to Congenital muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services