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Newborns main panel

Gene: GFPT1

Green List (high evidence)
GFPT1 (glutamine--fructose-6-phosphate transaminase 1)
EnsemblGeneIds (GRCh38): ENSG00000198380
EnsemblGeneIds (GRCh37): ENSG00000198380
OMIM: 138292, Gene2Phenotype
GFPT1 is in 8 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: Oxford Congenital Myasthenia Service have requested to be involved at the variant review stage. They will be able to assist with variant interpretation and initial management plans.
Created: 25 Sep 2024, 2:05 p.m. | Last Modified: 25 Sep 2024, 2:05 p.m.
Panel Version: 0.469
Created: 25 Sep 2024, 2:05 p.m.
Last Modified: 25 Sep 2024, 2:05 p.m.
Panel version: 0.469

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: 21310273 - 13 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

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: GFPT1.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Congenital myasthenic syndrome-12 for gene: GFPT1

14 Jul 2023, Gel status: 3

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene: GFPT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

5 Jul 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to GFPT1. Mode of inheritance for gene GFPT1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Congenital myasthenic syndrome-12 for gene: GFPT1 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 GFPT1. Added phenotypes Congenital myasthenic syndrome-12 for gene: GFPT1 Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: GFPT1 was added gene: GFPT1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFPT1 were set to Congenital myasthenic syndrome-12