White matter disorders and cerebral calcification - narrow panel
Gene: GLB1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. This gene is also Green on the White matter disorders - adult onset (Version 1.11). There is enough evidence to support a gene-disease assocation. GM1-gangliosidosis affect those in their infancy and juvenile stages as well. Therefore this gene should be rated Green at the next review.Created: 24 May 2021, 10:33 a.m. | Last Modified: 24 May 2021, 10:33 a.m.
Panel Version: 1.102
Well established gene-disease association, white matter changes are a feature.
Sources: Expert listCreated: 15 Sep 2020, 10:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM1-gangliosidosis, type I, MIM# 230500; GM1-gangliosidosis, type II, MIM# 230600
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: GLB1.
Source NHS GMS was added to GLB1. Source Expert Review Green was added to GLB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: glb1 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: GLB1.
Phenotypes for gene: GLB1 were changed from GM1-gangliosidosis, type I, MIM# 230500; GM1-gangliosidosis, type II, MIM# 230600 to GM1-gangliosidosis, type I, OMIM:230500; GM1-gangliosidosis, type II, OMIM:230600
gene: GLB1 was added gene: GLB1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLB1 were set to 25691190 Phenotypes for gene: GLB1 were set to GM1-gangliosidosis, type I, MIM# 230500; GM1-gangliosidosis, type II, MIM# 230600 Review for gene: GLB1 was set to GREEN gene: GLB1 was marked as current diagnostic