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  3. PSAT1
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Hydrops fetalis

Gene: PSAT1

Amber List (moderate evidence)
PSAT1 (phosphoserine aminotransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000135069
EnsemblGeneIds (GRCh37): ENSG00000135069
OMIM: 610936, Gene2Phenotype
PSAT1 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment on list classification: Unclear how frequently hydrops is a manifestation, skin oedema mentioned in a couple of case reports.
Created: 30 Dec 2019, 2:31 a.m. | Last Modified: 30 Dec 2019, 2:31 a.m.
Panel Version: 0.32
Hydrops can be a presenting feature.
Sources: Expert list
Created: 30 Dec 2019, 2:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neu-Laxova syndrome 2, MIM# 616038

Publications

Created: 30 Dec 2019, 2:29 a.m.

Panel version: 0.31

History Filter Activity

30 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psat1 has been classified as Amber List (Moderate Evidence).

30 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psat1 has been classified as Amber List (Moderate Evidence).

30 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PSAT1 was added gene: PSAT1 was added to Hydrops fetalis_VCGS. 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 GREEN