NSRP1

nuclear speckle splicing regulatory protein 1
OMIM: 616173
PanelMode of inheritanceDetails
6 panels
R-numbers: R61
Signed-off version 6.0
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 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NSRP1-associated developmental delay, epilepsy and microcephaly
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NSRP1-associated developmental delay, epilepsy and microcephaly
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NSRP1-associated developmental delay, epilepsy and microcephaly
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NSRP1-associated developmental delay, epilepsy and microcephaly
R-numbers: R88
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NSRP1-associated developmental delay, epilepsy and microcephaly