Intellectual disability
Gene: SRSF1

SRSF1 (serine and arginine rich splicing factor 1)
EnsemblGeneIds (GRCh38): ENSG00000136450
EnsemblGeneIds (GRCh37): ENSG00000136450
OMIM: 600812, Gene2Phenotype
SRSF1 is in 2 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 3 May 2024, 11:55 a.m. | Last Modified: 3 May 2024, 11:55 a.m.

Panel Version: 6.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 3 May 2024, 11:55 a.m.
Last Modified: 3 May 2024, 11:55 a.m.
Panel version: 6.11

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (15 unrelated cases and functional evidence) for the promotion of this gene to green rating in the next GMS review.
Created: 14 Oct 2023, 8:48 a.m. | Last Modified: 14 Oct 2023, 8:48 a.m.

Panel Version: 5.308

There are 17 individuals from 16 different families were reported with 15 different monoallelic variants (mostly de novo) in SRSF1 gene. They were reported with a neurodevelopmental disorder mainly comprising neurological abnormalities such as intellectual disability/ developmental delay, motor delay, speech delay, and behavioural disorders and facial dysmorphisms. Intellectual disability was present in 16 of 17 individuals (3 severe, 2 moderate, 3 mild to moderate, 3 mild, 1 borderline and 4 unknown severity), while the remaining one had learning disability.

Functional testing of a subset of variants in Drosophila supported pathogenicity in most, but 2 missense variants showed no functional effect and were classified VUS.

This gene has already been associated with neurodevelopmental disorder in both OMIM (MIM #620489) and Gene2Phenotype ('limited' rating in the DD panel).
Sources: Literature
Created: 14 Oct 2023, 8:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:620489

Publications

37071997

Created: 14 Oct 2023, 8:45 a.m.

Panel version: 5.307

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green
Literature

Phenotypes

Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:620489

OMIM

600812

Clinvar variants

Variants in SRSF1

Penetrance

None

Publications

37071997

Panels with this gene