NSRP1

nuclear speckle splicing regulatory protein 1
OMIM: 616173, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green NSRP1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy
  • Cerebral palsy
  • microcephaly
  • Intellectual disability

Green NSRP1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy
  • Cerebral palsy
  • microcephaly
  • Intellectual disability

Green NSRP1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy
  • Cerebral palsy
  • microcephaly
  • Intellectual disability

Green NSRP1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert list
    Phenotypes
    • Epilepsy
    • Cerebral palsy
    • microcephaly
    • Intellectual disability

    Green NSRP1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Epilepsy
    • Cerebral palsy
    • microcephaly
    • Intellectual disability

    Green NSRP1 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, NSRP1-related
    • Epilepsy
    • Cerebral palsy
    • microcephaly
    • Intellectual disability