Genetic epilepsy syndromesGene: FASTKD2
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
Mitochondrial complex IV deficiency, MIM#220110
Variants in this GENE are reported as part of current diagnostic practice
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