Brugada syndrome and cardiac sodium channel disease
Gene: KCND3EnsemblGeneIds (GRCh38): ENSG00000171385
EnsemblGeneIds (GRCh37): ENSG00000171385
OMIM: 605411, Gene2Phenotype
KCND3 is in 11 panels
4 reviews
Rebecca Whittington (South West GLH)
Brugada syndrome 9 (OMIM 616399), Spinocerebellar ataxia 19 (OMIM 607346).Created: 25 Mar 2019, 4:30 p.m.
Gene mainly assoc with ataxia /intellectual disability. NO strong evidence in the Giudicessi paper - both variants described do not have strong BI and some frequency on GnomAD. PMID:21349352. PMID:22840528. https://www.ncbi.nlm.nih.gov/pubmed/22284586?dopt=Abstract. https://pdfs.semanticscholar.org/496b/e70141f03f188a0215693739efed9ae36573.pdf.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10151Created: 20 Feb 2019, 2:47 p.m.
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Mode of inheritance
Disputed
Phenotypes
Brugada syndrome 1; MONDO_0011001
Caroline Wright (Genomics England Curator)
Comment when marking as ready: Not on Manchester diagnostic panelCreated: 11 Feb 2016, 12:20 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- London South GLH
- Expert Review Red
- Expert list
- Phenotypes
-
- Brugada syndrome 9, OMIM:616399
- OMIM
- 605411
- Clinvar variants
- Variants in KCND3
- Penetrance
- Complete
- Panels with this gene
-
- Short QT syndrome
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- Brugada syndrome and cardiac sodium channel disease
- Hereditary ataxia
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Sudden death in young people
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: KCND3 were changed from Brugada/Brugada like syndrome to Brugada syndrome 9, OMIM:616399
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to KCND3. Mode of inheritance for gene KCND3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to KCND3.
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)KCND3 was added to Brugada syndromepanel. Sources: Expert list