Genomics England
GMS Panels
Panels
Genes and Entities

PLXNA1

plexin A1
OMIM: 601055
PanelMode of inheritanceDetails
3 panels
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 9.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
developmental and epileptic encephalopathy, MONDO:0100062
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955, developmental and epileptic encephalopathy, MONDO:0100062