Genes in panel

Hereditary ataxia - adult onset

Gene: GLRB

Green List (high evidence)

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

3 reviews

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

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.

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

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
Tags
Q3_21_expert_review Q3_21_phenotype
OMIM
138492
Clinvar variants
Variants in GLRB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hyperekplexia 2, 614619 for gene: GLRB

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GLRB.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to GLRB.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1.

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GLRB were changed from 614619 HYPEREKPLEXIA 2 to Hyperekplexia 2, 614619

15 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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