CSTB

PanelMode of inheritanceDetails
5 panels
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800, Unverricht-Lundborg syndrome MONDO:0009698
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
UNVERRICHT-LUNDBORG DISEASE 254800
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive myoclonic epilepsy 1A, 254800, Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800
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
UNVERRICHT-LUNDBORG DISEASE