Early onset or syndromic epilepsy
Gene: GLB1
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: John Taylor. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM1-gangliosidosis, type I 230500 ; GM1-gangliosidosis, type II 230600; GM1-gangliosidosis, type III 230650; Mucopolysaccharidosis type IVB (Morquio) 253010
Publications
Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease associationCreated: 20 Nov 2018, 1:12 p.m.
Comment on phenotypes: Added phenotype suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panelCreated: 20 Nov 2018, 12:58 p.m.
Seizures are part of the phenotype of this metabolic condition.Created: 14 Aug 2018, 9:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM1-gangliosidosis, type II, MIM#230600
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to GLB1.
Source NHS GMS was added to GLB1.
Zornitza Stark: Seizures are part of the pheno
Gene: glb1 has been classified as Green List (High Evidence).
Gene: glb1 has been classified as Green List (High Evidence).
Publications for gene: GLB1 were set to
Phenotypes for gene: GLB1 were changed from to GM1-gangliosidosis, type II, 230600; seizures
Mode of inheritance for gene: GLB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to GLB1. Panel: Genetic Epilepsy Syndromes
GLB1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
GLB1 was created by Sarah Leigh