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  3. GFPT1
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Fetal anomalies

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)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 12:41 p.m. | Last Modified: 1 Feb 2021, 12:41 p.m.
Panel Version: 1.407
Created: 1 Feb 2021, 12:41 p.m.
Last Modified: 1 Feb 2021, 12:41 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Congenital disorders of glycosylation
Sources: Expert list
Created: 29 Jan 2021, 9:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenia, congenital, 12, with tubular aggregates

Created: 29 Jan 2021, 9:42 a.m.

Panel version: 1.215

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542
  • Congenital myasthenic syndrome 12, MONDO:0012518
OMIM
138292
Clinvar variants
Variants in GFPT1
Penetrance
None
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: GFPT1.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to GFPT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Feb 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GFPT1 were changed from Myasthenia, congenital, 12, with tubular aggregates to Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542; Congenital myasthenic syndrome 12, MONDO:0012518

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: gfpt1 has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: GFPT1.

29 Jan 2021, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: GFPT1 was added gene: GFPT1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates