NSRP1

nuclear speckle splicing regulatory protein 1
OMIM: 616173, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green NSRP1 in Malformations of cortical development Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.4 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Cerebral malformation	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes NSRP1-associated developmental delay, epilepsy and microcephaly
Green NSRP1 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 5.7 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes NSRP1-associated developmental delay, epilepsy and microcephaly
Green NSRP1 in Childhood onset hereditary spastic paraplegia Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes NSRP1-associated developmental delay, epilepsy and microcephaly
Green NSRP1 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NSRP1-associated developmental delay, epilepsy and microcephaly
Green NSRP1 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 5.10 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes NSRP1-associated developmental delay, epilepsy and microcephaly
Green NSRP1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes NSRP1-associated developmental delay, epilepsy and microcephaly