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Newborns main panel

Gene: GLRA1

Amber List (moderate evidence)
GLRA1 (glycine receptor alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000145888
EnsemblGeneIds (GRCh37): ENSG00000145888
OMIM: 138491, Gene2Phenotype
GLRA1 is in 13 panels

1 review

Mafalda Gomes (Genomics England Curator)

Gene REMOVED because of specialist opinion (Dan Lumsden).
Created: 7 Jul 2023, 9:53 a.m. | Last Modified: 7 Jul 2023, 9:53 a.m.
Panel Version: 0.147
The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 34379238 - review 77 variants both dominant and recessive
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Recessive mutations, which can be nonsense or deletion/frameshift mutations, are distributed throughout all domains and result in a deficiency of GlyR expression at the cell surface. In contrast, dominant mutations, which are missense, are clustered around the pore-lining TM2 domain. They disrupt the GlyR function by (1) impairing the channel gating, (2) determining fast desensitization, (3) losing the zinc potentiation, or (4) inducing spontaneous activation of the channel, which eventually leads to a decreased current-carrying capacity (PMID: 35636282). Should we then split and do LOF prioritisation for AR but not for AD? -> DB: Agree with your suggestion. I think you have been suggesting a separate line for each MOP for a gene? Happy to discuss
Created: 17 May 2023, 1:45 p.m. | Last Modified: 17 May 2023, 1:45 p.m.
Panel Version: 0.83
Created: 17 May 2023, 1:45 p.m.
Last Modified: 17 May 2023, 1:45 p.m.
Panel version: 0.147

History Filter Activity

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hyperekplexia 1 autosomal recessive for gene: GLRA1

14 Jul 2023, Gel status: 2

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: GLRA1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to GLRA1. Added phenotypes Hyperekplexia 1 autosomal recessive for gene: GLRA1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1 autosomal recessive

31 May 2023, Gel status: 3

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: GLRA1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

31 May 2023, Gel status: 3

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF/LOF was removed from gene: GLRA1.

31 May 2023, Gel status: 3

Added New Source, Set mode of inheritance, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to GLRA1. Mode of inheritance for gene GLRA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF/LOF tag was added to gene: GLRA1.

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: GLRA1 was added gene: GLRA1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal