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Intellectual disability

Gene: NSRP1

No list

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

1 review

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

Details

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

History Filter Activity

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