1. Panels
  2. Genetic Epilepsy
  3. KCNIP4
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Genetic Epilepsy

Gene: KCNIP4

Red List (low evidence)
KCNIP4 (potassium voltage-gated channel interacting protein 4)
EnsemblGeneIds (GRCh38): ENSG00000185774
EnsemblGeneIds (GRCh37): ENSG00000185774
OMIM: 608182, Gene2Phenotype
KCNIP4 is in 2 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

single paper describing insertions of L1 retrotransposons in KCNIP4
samples were post-mortem of resected temporal cortex from individuals with idiopathic temporal lobe epilepsy

1x de novo insertion of L1 in KCNIP4 however ddPCR revealed that this did NOT alter KCNIP4 mRNA expression
Sources: Literature
Created: 9 May 2024, 11:51 p.m.

Mode of inheritance
Unknown

Phenotypes
seizures; epilepsy

Publications

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

Created: 9 May 2024, 11:51 p.m.

Panel version: 0.2665

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • seizures
  • epilepsy
OMIM
608182
Clinvar variants
Variants in KCNIP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 May 2024, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: kcnip4 has been classified as Red List (Low Evidence).

9 May 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

gene: KCNIP4 was added gene: KCNIP4 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: KCNIP4 was set to Unknown Publications for gene: KCNIP4 were set to 33826137 Phenotypes for gene: KCNIP4 were set to seizures; epilepsy Review for gene: KCNIP4 was set to RED gene: KCNIP4 was marked as current diagnostic