Genes in panel
STRs in panel
Prev Next

Early onset or syndromic epilepsy

Gene: NSRP1

Green List (high evidence)

NSRP1 (nuclear speckle splicing regulatory protein 1)
EnsemblGeneIds (GRCh38): ENSG00000126653
EnsemblGeneIds (GRCh37): ENSG00000126653
OMIM: 616173, Gene2Phenotype
NSRP1 is in 6 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 9:39 a.m. | Last Modified: 1 Feb 2023, 9:39 a.m.
Panel Version: 3.29
Comment on list classification: New gene added by Zornitza Stark. There is sufficient evidence to promote to Green at the next GMS panel update.

The NSRP1 gene is not yet associated with any phenotype in OMIM but has a 'strong' disease confidence rating in G2P for 'NSRP1-associated developmental delay, epilepsy and microcephaly'.

Six individuals from three families with different homozygous LoF NSRP1 variants identified by Calame et al. 2021 (PMID: 34385670). Main clinical features include ID/DD (6/6), epilepsy (6/6, drug-resistant in 3/6), hypotonia (6/6), appendicular spasticity (6/6), microcephaly (5/6, Z-scores −0.95 to −5.60). Brain abnormalities included under-opercularization (3/4), simplified gyral pattern (3/4), superior and/or inferior cerebellar vermian hypoplasia (3/4), corpus callosum dysgenesis (1/4), and thin brainstem (1/4).
Created: 1 Aug 2022, 11:24 a.m. | Last Modified: 1 Aug 2022, 11:24 a.m.
Panel Version: 3.1641

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Novel gene regulating splicing. Biallelic LoF pathogenic variants reported in 6 individuals from 3 unrelated families associated with a phenotype characterized by developmental delay, epilepsy, microcephaly, and spastic cerebral palsy.
Sources: Literature
Created: 4 Dec 2021, 7:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Epilepsy; Cerebral palsy; microcephaly; Intellectual disability


Variants in this GENE are reported as part of current diagnostic practice


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Literature
  • NSRP1-associated developmental delay, epilepsy and microcephaly
Clinvar variants
Variants in NSRP1
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating was removed from gene: NSRP1.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to NSRP1. Source NHS GMS was added to NSRP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Aug 2022, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: NSRP1 was added gene: NSRP1 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review Amber Q3_22_rating tags were added to gene: NSRP1. Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSRP1 were set to 34385670 Phenotypes for gene: NSRP1 were set to NSRP1-associated developmental delay, epilepsy and microcephaly