Early onset or syndromic epilepsy
Gene: KCNQ5As a result of watchlist tag audit the watchlist tag was removed from KCNQ5- this is now a green gene with sufficient evidence/reviewCreated: 13 Jan 2020, 1:52 p.m. | Last Modified: 13 Jan 2020, 1:52 p.m.
Panel Version: 2.0
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. 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
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation, 617601
Publications
Comment on list classification: Promoted from amber to green. Have checked with Eleanor Williams (Genomic England) that two probands with different variants who have the same ethnic background is accepted as two separate pieces of evidence.Created: 21 Nov 2018, 2:56 p.m.
Comment when marking as ready: Phenotype conformed on OMIM and Gene2Phenotype. KCNQ5 is a green gene on the Intellectual disability panel.
As stated by Zornitza Stark (Australian Genomics), the original paper (PMID: 28669405) describes 2 of 4 patients with different variants in this gene who have seizures (both are are South East Asian descent). Another paper (PMID: 30359776) describes a patient with an intragenic duplication variant in this gene who has seizures. However, as there's just not quit nough evidence I have put the Watchlist tag on.Created: 20 Nov 2018, 9:49 a.m.
Four patients described in the original paper, two of whom had seizures (one severe EE).Created: 16 Aug 2018, 1:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation, autosomal dominant 46, MIM#617601
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag watchlist was removed from gene: KCNQ5.
Source Wessex and West Midlands GLH was added to KCNQ5.
Source NHS GMS was added to KCNQ5.
Zornitza Stark: Four patients described in the
Gene: kcnq5 has been classified as Green List (High Evidence).
Gene: kcnq5 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: KCNQ5.
Publications for gene: KCNQ5 were set to
Mode of inheritance for gene: KCNQ5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNQ5 were changed from to Mental retardation, autosomal dominant 46, 617601
Expert Review Amber was added to KCNQ5. Panel: Genetic Epilepsy Syndromes
KCNQ5 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
KCNQ5 was created by Sarah Leigh