Neuronal ceroid lipofuscinosis

Gene: KCTD7

Green List (high evidence)

KCTD7 (potassium channel tetramerization domain containing 7)
EnsemblGeneIds (GRCh38): ENSG00000243335
EnsemblGeneIds (GRCh37): ENSG00000243335
OMIM: 611725, Gene2Phenotype
KCTD7 is in 9 panels

1 review

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726
  • progressive myoclonic epilepsy type 3 MONDO:0012721
OMIM
611725
Clinvar variants
Variants in KCTD7
Penetrance
None
Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: KCTD7 were changed from to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726; progressive myoclonic epilepsy type 3 MONDO:0012721

13 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: KCTD7 was added gene: KCTD7 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal