Genomics England
GMS Panels
Panels
Genes and Entities

RELN

reelin
OMIM: 600514
PanelMode of inheritanceDetails
6 panels
Green
in Ataxia and cerebellar anomalies - childhood onset
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies, childhood onset
Signed-off version 9.22
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 2, 257320
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LISSENCEPHALY 2 319306
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
Signed-off version 9.56
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 2 (Norman-Roberts type), OMIM:257320, Norman-Roberts syndrome, MONDO:0009760, {Epilepsy, familial temporal lobe, 7}, OMIM:616436, familial temporal lobe epilepsy 7, MONDO:0014639
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LISSENCEPHALY 2
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 2 (Norman-Roberts type), OMIM:257320, neurodevelopmental disorder, MONDO:0700092
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
  • - Paediatric disorders
Signed-off version 8.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 2 (Norman-Roberts type) 257320, Type 2 lissencephaly and cerebellar hypoplasia