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Newborns main panel

Gene: PSAT1

Amber List (moderate evidence)
PSAT1 (phosphoserine aminotransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000135069
EnsemblGeneIds (GRCh37): ENSG00000135069
OMIM: 610936, Gene2Phenotype
PSAT1 is in 10 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
PSAT1 curation results (clinicalgenome.org)
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
  • Phosphoserine aminotransferase deficiency
OMIM
610936
Clinvar variants
Variants in PSAT1
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 PSAT1. Added phenotypes Phosphoserine aminotransferase deficiency for gene: PSAT1 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 PSAT1. Added phenotypes Phosphoserine aminotransferase deficiency for gene: PSAT1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Jun 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: PSAT1 were changed from Phosphoserine aminotransferase deficiency; ?Phosphoserine aminotransferase deficiency to Phosphoserine aminotransferase deficiency

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 PSAT1. Added phenotypes Phosphoserine aminotransferase deficiency for gene: PSAT1 Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes ?Phosphoserine aminotransferase deficiency for gene: PSAT1

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: PSAT1 was added gene: PSAT1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal