1. Panels
  2. Cerebral Palsy
  3. NSRP1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Cerebral Palsy

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families, sufficient for Green rating.
Created: 14 Oct 2021, 7:41 a.m. | Last Modified: 14 Oct 2021, 7:41 a.m.
Panel Version: 1.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 14 Oct 2021, 7:41 a.m.
Last Modified: 14 Oct 2021, 7:41 a.m.
Panel version: 1.16

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

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: 14 Oct 2021, 7:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy; Cerebral palsy; microcephaly; Intellectual disability

Publications

Created: 14 Oct 2021, 7:14 a.m.

Panel version: 1.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy
  • Cerebral palsy
  • microcephaly
  • Intellectual disability
OMIM
616173
Clinvar variants
Variants in NSRP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nsrp1 has been classified as Green List (High Evidence).

14 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nsrp1 has been classified as Green List (High Evidence).

14 Oct 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: NSRP1 was added gene: NSRP1 was added to Cerebral Palsy. 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 AMBER