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Intellectual disability syndromic and non-syndromic

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 11 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Established gene-disease association with affected individuals having features of DD.
Classified as Definitive by Epilepsy GCEP on 07/09/2022 - https://search.clinicalgenome.org/CCID:005218
Created: 21 Oct 2024, 4:30 a.m. | Last Modified: 21 Oct 2024, 4:30 a.m.
Panel Version: 0.6528

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
progressive myoclonus epilepsy MONDO:0020074

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • progressive myoclonus epilepsy MONDO:0020074
  • Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726)
OMIM
611725
Clinvar variants
Variants in KCTD7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kctd7 has been classified as Green List (High Evidence).

22 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCTD7 were changed from Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726); progressive myoclonus epilepsy MONDO:0020074 to progressive myoclonus epilepsy MONDO:0020074; Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726)

22 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCTD7 were changed from to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726); progressive myoclonus epilepsy MONDO:0020074

22 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCTD7 were set to

22 Oct 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCTD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCTD7 was added gene: KCTD7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCTD7 was set to Unknown