Congenital myopathy
Gene: SRPK3
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
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.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Nemaline myopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SRPK3 were changed from Nemaline myopathy to Nemaline myopathy, MONDO:0018958
Phenotypes for gene: SRPK3 were changed from Central core disease, 117000; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Malignant hyperthermia susceptibility 1, 145600 to Nemaline myopathy
Publications for gene: SRPK3 were set to
Phenotypes for gene: SRPK3 were changed from to Central core disease, 117000; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Malignant hyperthermia susceptibility 1, 145600
Mode of inheritance for gene: SRPK3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Source NHS GMS was added to SRPK3.
gene: SRPK3 was added gene: SRPK3 was added to Congenital myopathy. Sources: London South GLH Mode of inheritance for gene: SRPK3 was set to