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Newborns main panel

Gene: GOT2

Amber List (moderate evidence)
GOT2 (glutamic-oxaloacetic transaminase 2)
EnsemblGeneIds (GRCh38): ENSG00000125166
EnsemblGeneIds (GRCh37): ENSG00000125166
OMIM: 138150, Gene2Phenotype
GOT2 is in 3 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 31422819 (3 families)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Developmental and epileptic encephalopathy 82
OMIM
138150
Clinvar variants
Variants in GOT2
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to GOT2. Added phenotypes Developmental and epileptic encephalopathy 82 for gene: GOT2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to GOT2. Added phenotypes Developmental and epileptic encephalopathy 82 for gene: GOT2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to GOT2. Added phenotypes Developmental and epileptic encephalopathy 82 for gene: GOT2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: GOT2 were changed from Developmental and epileptic encephalopathy 82; Glutamic-oxaloacetic transaminase 2 deficiency to Developmental and epileptic encephalopathy 82

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to GOT2. Added phenotypes Developmental and epileptic encephalopathy 82 for gene: GOT2 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glutamic-oxaloacetic transaminase 2 deficiency for gene: GOT2

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: GOT2 was added gene: GOT2 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal