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Genetic epilepsy syndromes

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 9 panels

7 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AD EIEE14 & AD nocturnal frontal lobe epilepsy type 5 (ENFL5). EIEE14 presents as malignant migrating partial seizures of infancy. Barcia et al, 2012 - 4 diff de novo het mutations in KCNT1 - functional work done. Vanderver et al, 2014 - de novo het mutation. Ishii et al, 2013 - 2 unrelated girls - same de novo het missense mutation. ENFL5 - AD focal epilepsy syndrome - childhood onset of motor clusters in sleep - Derry et al, 2008 & Heron et al, 2012 - 4 unrelated families all had het mutations.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic , with or without intracellular inclusions, 611726

Publications

Sarah Leigh (Genomics England Curator)

Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in 6 unrelated cases.
Created: 10 Apr 2018, 9:53 a.m.

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert
Phenotypes
  • Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726
OMIM
611725
Clinvar variants
Variants in KCTD7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to KCTD7.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to KCTD7.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Gene originally listed on the

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to KCTD7. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to KCTD7. Panel: Genetic Epilepsy Syndromes

10 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Apr 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

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

10 Apr 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for KCTD7 were set to 22693283; 22748208

10 Apr 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for KCTD7 were set to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

KCTD7 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

KCTD7 was created by Sarah Leigh