Congenital muscular dystrophy and congenital myopathy

Gene: SRPK3

Red List (low evidence)

SRPK3 is not associated with any phenotypes on OMIM or Gene2Phenotype. There does not apepar to be any published human cases of variants in SRPK3 causing congenital myopathy. There are mouse models (GOF and LOF) (PMID: 16140986).

Created: 8 Aug 2019, 10:02 a.m. | Last Modified: 8 Aug 2019, 10:02 a.m.

Panel Version: 1.155

I don't know

Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 26799446 is incorrect. The original file from London South GLH correctly associates PMID: 26799446 to the gene RYR1, but for SRPK3 the publication field was blank (no data was supplied as evidence). The Green review rating for SRPK3 is the rating given by London South GLH. There is currently not enough evidence to support a Green rating. Rating to be discussed by the Neurology Test Group to confirm rating.

Created: 16 Oct 2019, 3:23 p.m. | Last Modified: 16 Oct 2019, 3:33 p.m.

Panel Version: 1.166

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.

Created: 30 Apr 2019, 10:09 a.m.

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Nemaline myopathy

Publications

• 26799446

Variants in this GENE are reported as part of current diagnostic practice