KCTD7

potassium channel tetramerization domain containing 7
OMIM: 611725
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEURONAL CEROID LIPOFUSCINOSIS, PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3 611726
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726
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
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726, NEURONAL CEROID LIPOFUSCINOSIS
R-numbers: R231
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes