Early onset or syndromic epilepsy

Gene: MANBA

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

The majority of disease-causing variants in this gene are associated with beta-mannosidosis, where seizures may be a feature, PMID 12468273.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mannosidosis, beta, 248510

Publications

• 22369051

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

Created: 11 Dec 2018, 1:23 p.m.

I don't know

Seizures are a rare feature of this metabolic disorder.

Created: 16 Aug 2018, 11:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mannosidosis, beta, MIM#248510

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