Early onset or syndromic epilepsy

Gene: FASTKD2

Green List (high evidence)

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

• 18771761
• 28499982
• 31944455
• 35729327

I don't know

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

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mitochondrial complex IV deficiency, 220110

Publications

• 28499982
• 18771761
• 25916514

Comment when marking as ready: Based on reviewers' comments.

Created: 11 Dec 2018, 1:18 p.m.

I don't know

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

• 18771761, 28499982

Variants in this GENE are reported as part of current diagnostic practice