Genomics England

NSRP1

nuclear speckle splicing regulatory protein 1

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NSRP1-associated developmental delay, epilepsy and microcephaly
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NSRP1-associated developmental delay, epilepsy and microcephaly
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NSRP1-associated developmental delay, epilepsy and microcephaly
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities, OMIM:620001
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NSRP1-associated developmental delay, epilepsy and microcephaly
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NSRP1-associated developmental delay, epilepsy and microcephaly
Green in Severe microcephaly R-numbers: R88 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NSRP1-associated developmental delay, epilepsy and microcephaly