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Prepair 1000+

Gene: PSAT1

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

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Severity of disease correlates with residual enzyme activity. Multiple families reported.

Neu-Laxova syndrome: severe perinatal presentation with high mortality. Affected individuals have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration

Phosphoserine aminotransferase deficiency: Onset in infancy. Characterised clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation.
Created: 13 Sep 2024, 5:51 a.m. | Last Modified: 13 Sep 2024, 5:51 a.m.
Panel Version: 1.289

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Phosphoserine aminotransferase deficiency MIM#610992; Neu-Laxova syndrome 2 MIM#616038

Publications

Created: 13 Sep 2024, 5:51 a.m.
Last Modified: 13 Sep 2024, 5:51 a.m.
Panel version: 1.289

History Filter Activity

13 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psat1 has been classified as Green List (High Evidence).

13 Sep 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PSAT1 were changed from Neu-Laxova syndrome 2, 616038 (3) to Phosphoserine aminotransferase deficiency MIM#610992; Neu-Laxova syndrome 2 MIM#616038

13 Sep 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PSAT1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PSAT1 was added gene: PSAT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, 616038 (3)