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Intellectual disability syndromic and non-syndromic

Gene: KCTD13

Red List (low evidence)

KCTD13 (potassium channel tetramerization domain containing 13)
EnsemblGeneIds (GRCh38): ENSG00000174943
EnsemblGeneIds (GRCh37): ENSG00000174943
OMIM: 608947, Gene2Phenotype
KCTD13 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Evidence from cytogenetic and animal studies only.
Created: 5 Dec 2019, 9:52 p.m. | Last Modified: 5 Dec 2019, 9:52 p.m.
Panel Version: 0.548

Mode of inheritance
Unknown

Phenotypes
Intellectual disability

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), KCTD13-related
OMIM
608947
Clinvar variants
Variants in KCTD13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Jan 2024, Gel status: 1

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

Mode of inheritance for gene: KCTD13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

12 Jan 2024, Gel status: 1

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: KCTD13 were changed from Intellectual disability to Neurodevelopmental disorder (MONDO#0700092), KCTD13-related

18 Oct 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCTD13 was changed from Unknown to Unknown

18 Oct 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCTD13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown

5 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kctd13 has been classified as Red List (Low Evidence).

5 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCTD13 were changed from to Intellectual disability

5 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCTD13 were set to

5 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCTD13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kctd13 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCTD13 was added gene: KCTD13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCTD13 was set to Unknown