Hereditary ataxia with onset in adulthood
Gene: GLRB
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green. Additional GMS comments: OK to keep a childhood-onset gene in an adult-onset panel I think. Adults have also been reported to have a phenotype (though chorea rather than hyperekplexia) PMID: 32911248.(NT), would not downgrade purely because disease is infant onset and this is an adult panel (only really an issue of opposite - adult onset gene in paed panel)(EAST),Created: 1 Feb 2023, 2:30 p.m. | Last Modified: 1 Feb 2023, 2:30 p.m.
Panel Version: 3.10
The tags Q3_21_expert_review and Q3_21_phenotype have been added to this gene in this panel. This is because GLRB variants are associated with Hyperekplexia 2 OMIM:614619, which manifests in infancy. Therefore, this gene may not be appropriate for this adult onset panel.Created: 29 Sep 2021, 9:45 a.m. | Last Modified: 29 Sep 2021, 9:45 a.m.
Panel Version: 2.85
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
As above, phenotype doesn't specifically list cerebellar abnormalities or ataxia could be confused as suchCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 2, 614619
Tag Q3_21_expert_review was removed from gene: GLRB. Tag Q3_21_phenotype was removed from gene: GLRB. Tag Q2_22_rating was removed from gene: GLRB.
Tag Q2_22_rating tag was added to gene: GLRB.
Tag Q3_21_expert_review tag was added to gene: GLRB. Tag Q3_21_phenotype tag was added to gene: GLRB.
Publications for gene: GLRB were set to 23238346; 11929858; 21391991
Phenotypes for gene: GLRB were changed from Hyperekplexia 2, 614619 to Hyperekplexia 2 OMIM:614619; hyperekplexia 2 MONDO:0013828
Added phenotypes Hyperekplexia 2, 614619 for gene: GLRB
Source NHS GMS was added to GLRB.
Source Wessex and West Midlands GLH was added to GLRB.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: GLRB were changed from 614619 HYPEREKPLEXIA 2 to Hyperekplexia 2, 614619
gene: GLRB was added gene: GLRB was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLRB were set to 23238346; 11929858; 21391991 Phenotypes for gene: GLRB were set to 614619 HYPEREKPLEXIA 2