Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Genetic Epilepsy

Gene: KCTD3

Green List (high evidence)

KCTD3 (potassium channel tetramerization domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000136636
EnsemblGeneIds (GRCh37): ENSG00000136636
OMIM: 613272, Gene2Phenotype
KCTD3 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Seven individuals (including one set of monozygotic twin) from 4 consanguineous families reported with bi-allelic variants in this gene and developmental epileptic encephalopathy, central hypotonia, progressive peripheral hypertonia, and variable dysmorphic facial features. Posterior fossa abnormalities (ranging from Dandy-Walker malformation to isolated hypoplasia of the cerebellar vermis) were consistently observed in addition to other variable neuroradiological abnormalities such as hydrocephalus and abnormal brain myelination.
Created: 12 Oct 2021, 2:14 a.m. | Last Modified: 12 Oct 2021, 2:14 a.m.
Panel Version: 0.1305

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy; Intellectual disability; Posterior fossa abnormalities

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Epilepsy
  • Intellectual disability
  • Posterior fossa abnormalities
OMIM
613272
Clinvar variants
Variants in KCTD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kctd3 has been classified as Green List (High Evidence).

12 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCTD3 were changed from to Epilepsy; Intellectual disability; Posterior fossa abnormalities

12 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCTD3 were set to

12 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCTD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCTD3 was added gene: KCTD3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCTD3 was set to Unknown