Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

Hereditary ataxia with onset in adulthood
Gene: GLRB

GLRB (glycine receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000109738
EnsemblGeneIds (GRCh37): ENSG00000109738
OMIM: 138492, Gene2Phenotype
GLRB is in 8 panels

4 reviews

Mafalda Gomes (Genomics England Curator)

Green List (high evidence)

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

Created: 1 Feb 2023, 2:30 p.m.
Last Modified: 1 Feb 2023, 2:30 p.m.
Panel version: 3.10

Sarah Leigh (Genomics England Curator)

I don't know

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

Created: 29 Sep 2021, 9:45 a.m.
Last Modified: 29 Sep 2021, 9:45 a.m.
Panel version: 2.85

Louise Daugherty (Genomics England Curator)

I don't know

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.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.8

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

As above, phenotype doesn't specifically list cerebellar abnormalities or ataxia could be confused as such
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperekplexia 2, 614619

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Wessex and West Midlands GLH
Expert Review Green
Brain channelopathy v1.46

Phenotypes

Hyperekplexia 2 OMIM:614619
hyperekplexia 2 MONDO:0013828

OMIM

138492

Clinvar variants

Variants in GLRB

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag, Removed Tag, Removed Tag

Mafalda Gomes (Genomics England Curator)

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.

31 May 2022, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_22_rating tag was added to gene: GLRB.

29 Sep 2021, Gel status: 3

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_21_expert_review tag was added to gene: GLRB. Tag Q3_21_phenotype tag was added to gene: GLRB.

11 May 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GLRB were set to 23238346; 11929858; 21391991

11 May 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GLRB were changed from Hyperekplexia 2, 614619 to Hyperekplexia 2 OMIM:614619; hyperekplexia 2 MONDO:0013828

15 Apr 2019, Gel status: 4