RELN

PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 2, 257320
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LISSENCEPHALY 2 319306
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LISSENCEPHALY 2
R-numbers: R59
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Epilepsy, familial temporal lobe, 7} 616436
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 2 (Norman-Roberts type), 257320, LISSENCEPHALY 2
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 2 (Norman-Roberts type) 257320, Type 2 lissencephaly and cerebellar hypoplasia