Genomics England
GMS Panels
Panels
Genes and Entities

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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEURONAL CEROID LIPOFUSCINOSIS, PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3 611726
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726, NEURONAL CEROID LIPOFUSCINOSIS
Green
in Neuronal ceroid lipofuscinosis
R-numbers: R231
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726, progressive myoclonic epilepsy type 3 MONDO:0012721