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  3. KCNC3
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Cerebellar hypoplasia

Gene: KCNC3

Green List (high evidence)
KCNC3 (potassium voltage-gated channel subfamily C member 3)
EnsemblGeneIds (GRCh38): ENSG00000131398
EnsemblGeneIds (GRCh37): ENSG00000131398
OMIM: 176264, Gene2Phenotype
KCNC3 is in 11 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Eligibility criteria. DD on G2P causing cerebellar ataxia. UKGTN inherited ataxias
Created: 3 Nov 2016, 11:27 a.m.
Created: 3 Nov 2016, 11:27 a.m.

Panel version: 0.55

Ellen McDonagh (Genomics England Curator)

Mode of inheritance and phenotypes sourced from OMIM.
Created: 8 Jan 2016, 10:03 a.m.
Created: 8 Jan 2016, 10:03 a.m.

Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Other
  • Eligibility statement prior genetic testing
Phenotypes
  • Spinocerebellar ataxia 13
OMIM
176264
Clinvar variants
Variants in KCNC3
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

3 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

3 Nov 2016, Gel status: 4

Upload gene information

Alice Gardham (Genomics England)

KCNC3 was added to Cerebellar hypoplasiapanel. Sources: UKGTN,Emory Genetics Laboratory,Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

3 Nov 2016, Gel status: 0

Set Mode of Inheritance

Alice Gardham (Genomics England)

Model of inheritance for gene KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

8 Jan 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene KCNC3 were set to Spinocerebellar ataxia 13

8 Jan 2016, Gel status: 0

Upload gene information

Ellen McDonagh (Genomics England Curator)

KCNC3 was added to Cerebellar hypoplasiapanel. Sources: Other

8 Jan 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNC3 was added to Cerebellar hypoplasiapanel. Sources: Eligibility statement prior genetic testing

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KCNC3 was created by ellenmcdonagh