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Arthrogryposis

Gene: DYSF

Red List (low evidence)

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

2 reviews

Alice Gardham (Genomics England)

Comment on list classification: No known association with arthrogryposis
Created: 4 Jan 2017, 12:34 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 Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768Miyoshi muscular dystrophy 1, 254130
  • Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768
  • Miyoshi muscular dystrophy 1, 254130
  • Limb-Girdle Muscular Dystrophy, Recessive
OMIM
603009
Clinvar variants
Variants in DYSF
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

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.

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

DYSF was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services DYSF was added to Arthrogryposispanel. Source: Model of inheritance for gene DYSF was set to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DYSF was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DYSF was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DYSF was created by ellenmcdonagh