Early onset or syndromic epilepsy
Gene: MANBA
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
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
Comment when marking as ready: Based on reviewers' comments.Created: 11 Dec 2018, 1:23 p.m.
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
Source Wessex and West Midlands GLH was added to MANBA.
Source NHS GMS was added to MANBA.
Zornitza Stark: Seizures are a rare feature of
Gene: manba has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to MANBA. Panel: Genetic Epilepsy Syndromes
MANBA was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
MANBA was created by Sarah Leigh