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Intellectual disability

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 7 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: 30 Jan 2023, 5:50 p.m. | Last Modified: 30 Jan 2023, 5:50 p.m.
Panel Version: 4.53
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
Created: 1 Aug 2022, 11:24 a.m.
Last Modified: 1 Aug 2022, 11:24 a.m.
Panel version: 4.53

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

Phenotypes
Epilepsy; Cerebral palsy; microcephaly; Intellectual disability

Publications

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

Created: 4 Dec 2021, 7:47 a.m.

Panel version: 3.1478

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • NSRP1-associated developmental delay, epilepsy and microcephaly
OMIM
616173
Clinvar variants
Variants in NSRP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating was removed from gene: NSRP1.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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

1 Aug 2022, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating tag was added to gene: NSRP1.

1 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: nsrp1 has been classified as Amber List (Moderate Evidence).

1 Aug 2022, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NSRP1 were changed from Epilepsy; Cerebral palsy; microcephaly; Intellectual disability to NSRP1-associated developmental delay, epilepsy and microcephaly

4 Dec 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NSRP1 was added gene: NSRP1 was added to Intellectual disability. Sources: Literature 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 Epilepsy; Cerebral palsy; microcephaly; Intellectual disability Review for gene: NSRP1 was set to GREEN gene: NSRP1 was marked as current diagnostic