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  2. Muscular dystrophy and myopathy_Paediatric
  3. SRPK3
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Muscular dystrophy and myopathy_Paediatric

Gene: SRPK3

Green List (high evidence)
SRPK3 (SRSF protein kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000184343
EnsemblGeneIds (GRCh37): ENSG00000184343
OMIM: 301002, Gene2Phenotype
SRPK3 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

33 individuals reported with SRPK3 variants but myopathy only occurred when TTN variant also present (most truncating). Zebrafish model supports digenic model of inheritance.
Sources: Literature
Created: 29 Apr 2024, 7:32 a.m.

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

Phenotypes
Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related

Publications

Created: 29 Apr 2024, 7:32 a.m.

Panel version: 1.32

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related
Tags
digenic
OMIM
301002
Clinvar variants
Variants in SRPK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srpk3 has been classified as Green List (High Evidence).

29 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srpk3 has been classified as Green List (High Evidence).

29 Apr 2024, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag digenic tag was added to gene: SRPK3.

29 Apr 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SRPK3 was added gene: SRPK3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: SRPK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SRPK3 were set to 38429495 Phenotypes for gene: SRPK3 were set to Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related Review for gene: SRPK3 was set to GREEN