Congenital muscular dystrophy and congenital myopathy

Gene: DYSF

Helen Brittain (Genomics England Curator) reviewing this gene on the old GMS Congenital myopathy panel (rated Red) notes: Phenotypes are associated with significantly raised CK and dystrophic changes on muscle biopsy. Therefore more appropriate for a muscular dystrophy panel.

Created: 3 Feb 2023, 2:26 p.m. | Last Modified: 3 Feb 2023, 2:26 p.m.

Panel Version: 0.47

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

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.

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