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Intellectual disability

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 12 panels

5 reviews

Catherine Snow (Genomics England)

I don't know

Kessi et al summarise KCNC3 in review article "Intellectual Disability and Potassium Channelopathies: A Systematic Review" PMID: 32655623. Note that in PMID:25756792 reported three cases, of which one presented with severe ID and two with mild ID accompanied with cerebellar ataxia. Two different gain of function variants, one had severe ID (D129N) the other mild ID (V535M). Inconsistency of gene as a role in cognition in mouse models. Ataxia predominant phenotype and Green on relevant panels therefore classify as Amber.
Created: 12 Nov 2020, 3:07 p.m. | Last Modified: 12 Nov 2020, 3:07 p.m.
Panel Version: 3.522

Phenotypes
Spinocerebellar ataxia 13, OMIM:605259; MONDO:0011529

Publications

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Mild ID reported only in some individuals with this progressive neurological disorder.
Created: 8 Feb 2020, 9:08 a.m. | Last Modified: 8 Feb 2020, 9:08 a.m.
Panel Version: 3.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 13, MIM#605259

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
SPINOCEREBELLAR ATAXIA TYPE 13 (SCA13)

Publications

  • 0

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_omim_20150205_movement . Main mutation mechanism : Uncertain
Created: 27 Jul 2017, 6:59 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; find_uk10k; omim_20150205_movement; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Uncertain. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:42 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Lu Raymond (university of cambridge )

Green List (high evidence)

History Filter Activity

12 Nov 2020, Gel status: 3

Added Tag

Catherine Snow (Genomics England)

Tag for-review tag was added to gene: KCNC3.

12 Nov 2020, Gel status: 3

Set Phenotypes

Catherine Snow (Genomics England)

Phenotypes for gene: KCNC3 were changed from Spinocerebellar ataxia 13, OMIM:605259; MONDO:0011529 to Spinocerebellar ataxia 13, OMIM:605259; MONDO:0011529

12 Nov 2020, Gel status: 3

Set Phenotypes

Catherine Snow (Genomics England)

Phenotypes for gene: KCNC3 were changed from SPINOCEREBELLAR ATAXIA TYPE 13 (SCA13) to Spinocerebellar ataxia 13, OMIM:605259; MONDO:0011529

12 Nov 2020, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene: KCNC3 were set to 32655623; 25756792

12 Nov 2020, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene: KCNC3 were set to 0

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNC3 was added to Intellectual disabilitypanel. Sources: Expert Review Green

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KCNC3 was created by ellenmcdonagh