Arthrogryposis
Gene: DYSFEnsemblGeneIds (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 arthrogryposisCreated: 4 Jan 2017, 12:34 p.m.
Emma Clement (Great Ormond Street Hospital)
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
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).
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
Added New Source
Ellen McDonagh (Genomics England Curator)DYSF was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)DYSF was added to Arthrogryposispanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)DYSF was created by ellenmcdonagh