Congenital myopathy

Gene: SRPK3

Red List (low evidence)

SRPK3 (SRSF protein kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000184343
EnsemblGeneIds (GRCh37): ENSG00000184343
OMIM: 301002, Gene2Phenotype
SRPK3 is in 1 panel

3 reviews

Ivone Leong (Genomics England Curator)

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

Louise Daugherty (Genomics England Curator)

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.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • London South GLH
Phenotypes
  • Nemaline myopathy
OMIM
301002
Clinvar variants
Variants in SRPK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

30 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SRPK3 were set to

30 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

30 Apr 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: SRPK3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SRPK3.

30 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SRPK3 was added gene: SRPK3 was added to Congenital myopathy. Sources: London South GLH Mode of inheritance for gene: SRPK3 was set to