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  3. PSAT1
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Fetal hydrops

Gene: PSAT1

Red List (low evidence)
PSAT1 (phosphoserine aminotransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000135069
EnsemblGeneIds (GRCh37): ENSG00000135069
OMIM: 610936, Gene2Phenotype
PSAT1 is in 10 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Added to panel and rated Amber by Zornitza Stark. Fetal cases in Neu-Laxova syndrome (MIM:616038) in PMID:25152457 and 31903955 but not necessarily hydrops. Therefore rated Red awaiting further cases with hydrops.
Created: 7 May 2020, 3:57 p.m. | Last Modified: 7 May 2020, 3:57 p.m.
Panel Version: 1.22
Created: 7 May 2020, 3:57 p.m.
Last Modified: 7 May 2020, 3:57 p.m.
Panel version: 1.22

Zornitza Stark (Australian Genomics)

I don't know

Unclear how frequently hydrops is a manifestation, skin oedema mentioned in a couple of case reports.
Sources: Expert list
Created: 30 Dec 2019, 7:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neu-Laxova syndrome 2, MIM# 616038

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Dec 2019, 7:10 a.m.

Panel version: 1.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Neu-Laxova syndrome 2, MIM# 616038
OMIM
610936
Clinvar variants
Variants in PSAT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 May 2020, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: psat1 has been classified as Red List (Low Evidence).

30 Dec 2019, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PSAT1 was added gene: PSAT1 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSAT1 were set to 30838783; 27475004 Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, MIM# 616038 Review for gene: PSAT1 was set to AMBER gene: PSAT1 was marked as current diagnostic