Congenital muscular dystrophy
Gene: DYSF
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 settingCreated: 26 Jan 2017, 3:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
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.
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
Source was removed from DYSF.
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
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Amber List (Moderate Evidence).
Publications for DYSF were set to 25821721
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
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
DYSF was added to Congenital muscular dystrophypanel. Source:
Model of inheritance for gene DYSF was changed to BIALLELIC, autosomal or pseudoautosomal
DYSF was added to Congenital muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
DYSF was added to Congenital muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services