Genomics England
GMS Panels
Panels
Genes and Entities

LNPK

lunapark, ER junction formation factor
OMIM: 610236
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Recessive Neurodevelopmental Syndrome
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 7.54
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090