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Intellectual disability

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from amber to green. No phenotypes are associated with this gene OMIM or Gene2Phenotype.
One study (PMID: 29406573) reported different variants in KCTD3 for 7 probands from 4 consanguineous families who all have epilepsy and global developmental disability. The families are from the same geographical location. The study did show that the variants segregated with the phenotype. Two other large (PMID: 27848944, 25558065) screening studies reported 2 probands with the same frameshift KCTD3 variant who have epilepsy and global developmental disability. This frameshift variant was also found in one of the probands in PMID: 29406573 article.
Created: 27 Jun 2019, 1:35 p.m. | Last Modified: 27 Jun 2019, 1:35 p.m.
Panel Version: 2.894

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple affected individuals from unrelated families reported in the literature, ID is part of the phenotype.
Created: 22 Jun 2018, 11:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epilepsy and global developmental delay
OMIM
613272
Clinvar variants
Variants in KCTD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jun 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: KCTD3 were set to 29406573, 27848944, 25558065

27 Jun 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: KCTD3 were changed from to Epilepsy and global developmental delay

27 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to KCTD3.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

KCTD3 was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

KCTD3 was created by Zornitza Stark