Early onset or syndromic epilepsy
Gene: FASTKD2
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 9:39 a.m. | Last Modified: 1 Feb 2023, 9:39 a.m.
Panel Version: 3.29
At least 7 individuals from 6 families have been reported with biallelic variants in this gene, of which 6/7 cases developed seizures.Created: 31 Aug 2022, 1:26 p.m. | Last Modified: 31 Aug 2022, 1:26 p.m.
Panel Version: 2.587
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 44, OMIM:618855
Publications
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: Alison Callaway and John Taylor. Suggested gene rating: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment when marking as ready: Based on reviewers' comments.Created: 11 Dec 2018, 1:18 p.m.
Seizures are part of the phenotype, but only two families reported.Created: 13 Aug 2018, 12:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, MIM#220110
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_22_rating was removed from gene: FASTKD2.
Source Expert Review Green was added to FASTKD2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: FASTKD2 were set to
Tag Q3_22_rating tag was added to gene: FASTKD2.
Phenotypes for gene: FASTKD2 were changed from to Combined oxidative phosphorylation deficiency 44, OMIM:618855
Mode of inheritance for gene: FASTKD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source Wessex and West Midlands GLH was added to FASTKD2.
Source NHS GMS was added to FASTKD2.
Zornitza Stark: Seizures are part of the pheno
Gene: fastkd2 has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to FASTKD2. Panel: Genetic Epilepsy Syndromes
FASTKD2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
FASTKD2 was created by Sarah Leigh