1. Panels
  2. Intellectual disability
  3. SRPK3
Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

Gene: SRPK3

Green List (high evidence)
SRPK3 (SRSF protein kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000184343
EnsemblGeneIds (GRCh37): ENSG00000184343
OMIM: 301002, Gene2Phenotype
SRPK3 is in 4 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 6:15 p.m. | Last Modified: 24 Feb 2025, 6:15 p.m.
Panel Version: 8.97

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

Created: 24 Feb 2025, 6:15 p.m.
Last Modified: 24 Feb 2025, 6:15 p.m.
Panel version: 8.97

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: As reviewed by Zornitza Stark, PMID:39073169 reported nine individuals from 5 unrelated families reported with SRPK3 variants and X-linked intellectual disability. Of eight patients from four families that were ascertained postnatally, seven from three families had ID, while the eighth patient was reported with global developmental delay. The ninth case that was ascertained prenatally, had a complex structural brain phenotype.

This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.

As there is sufficient evidence available for the association of this gene to ID, this gene should be promoted to green rating in the next GMS update.
Created: 13 Aug 2024, 4:47 p.m. | Last Modified: 13 Aug 2024, 4:47 p.m.
Panel Version: 7.11

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

Phenotypes
neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Publications

Created: 13 Aug 2024, 4:34 p.m.
Last Modified: 13 Aug 2024, 4:34 p.m.
Panel version: 7.9

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID 39073169: 9 individuals from 5 unrelated families reported with 4 missense and 1 putative truncating variant and a neurodevelopmental phenotype. The 8 patients ascertained postnatally shared common clinical features including intellectual disability, agenesis of the corpus callosum, abnormal eye movement, and ataxia. A ninth case, ascertained prenatally, had a complex structural brain phenotype. Supportive animal model data (mouse and zebrafish).
Sources: Literature
Created: 2 Aug 2024, 7:27 a.m.

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

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, SRPK3-related

Publications

Created: 2 Aug 2024, 7:27 a.m.

Panel version: 6.77

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Intellectual developmental disorder, X-linked 114, OMIM:301134
OMIM
301002
Clinvar variants
Variants in SRPK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jun 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SRPK3 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to Intellectual developmental disorder, X-linked 114, OMIM:301134

25 Feb 2025, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: SRPK3.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to SRPK3. Source Expert Review Green was added to SRPK3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

13 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: srpk3 has been classified as Amber List (Moderate Evidence).

13 Aug 2024, Gel status: 0

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SRPK3 were changed from Neurodevelopmental disorder, MONDO:0700092, SRPK3-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

13 Aug 2024, Gel status: 0

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: SRPK3.

2 Aug 2024, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SRPK3 was added gene: SRPK3 was added to Intellectual disability. 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 39073169 Phenotypes for gene: SRPK3 were set to Neurodevelopmental disorder, MONDO:0700092, SRPK3-related Review for gene: SRPK3 was set to GREEN