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Fetal anomalies v1.836 PSAT1 Arina Puzriakova Tag for-review was removed from gene: PSAT1.
Fetal anomalies v1.836 PSAT1 Arina Puzriakova commented on gene: PSAT1
Fetal anomalies v1.835 PSAT1 Arina Puzriakova Source Expert Review Green was added to PSAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.519 PSAT1 Arina Puzriakova Phenotypes for gene: PSAT1 were changed from Neu-Laxova syndrome 2, 616038; NEU-LAXOVA SYNDROME; PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY to Neu-Laxova syndrome 2, OMIM:616038; Neu-Laxova syndrome 2, MONDO:0014466
Fetal anomalies v1.203 PSAT1 Rhiannon Mellis reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neu-Laxova syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.88 PSAT1 Sarah Leigh commented on gene: PSAT1: There is enough evidence for this gene to be rated GREEN at the next major review.
Fetal anomalies v1.88 PSAT1 Sarah Leigh Deleted their comment
Fetal anomalies v1.88 PSAT1 Sarah Leigh reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.88 PSAT1 Sarah Leigh Tag for-review tag was added to gene: PSAT1.
Fetal anomalies v1.86 PSAT1 Catherine Snow Classified gene: PSAT1 as Amber List (moderate evidence)
Fetal anomalies v1.86 PSAT1 Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel.
Fetal anomalies v1.86 PSAT1 Catherine Snow Gene: psat1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.57 PSAT1 Rebecca Foulger Classified gene: PSAT1 as Green List (high evidence)
Fetal anomalies v1.57 PSAT1 Rebecca Foulger Added comment: Comment on list classification: Rated 'probable' for Neu-Laxova syndrome in Gene2Phenotype, but there are sufficient cases from the literature to support causation (6 families in PMID:25152457 and 1 Chinese family in PMID:31903955). Therefore updated rating from Amber to Green: Fetally-relevant phenotype and sufficient evidence.
Fetal anomalies v1.57 PSAT1 Rebecca Foulger Gene: psat1 has been classified as Green List (High Evidence).
Fetal anomalies v1.56 PSAT1 Rebecca Foulger Phenotypes for gene: PSAT1 were changed from NEU-LAXOVA SYNDROME; PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY to Neu-Laxova syndrome 2, 616038; NEU-LAXOVA SYNDROME; PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
Fetal anomalies v1.55 PSAT1 Rebecca Foulger Publications for gene: PSAT1 were set to
Fetal anomalies v1.54 PSAT1 Rebecca Foulger commented on gene: PSAT1: PMID:31903955 (Ni et al., 2019) report Chinese Neu-Laxova syndrome (NLS) patients from 2 families. Compound het PSAT1 variants R342W and Y70N were found in the proband from family 1. (PHGDH variants were identified in family 2).
Fetal anomalies v1.54 PSAT1 Rebecca Foulger commented on gene: PSAT1: PMID:25152457. Acuna-Hidalgo et al., 2014 report a rare AR disorder with severe malformations leading to prenatal or early postnatal lethality (Neu-Laxova syndrome). They identified variants in PHGDH, PSAT1 and PSPH in individuals with NLS, including 6 families with 3 different missense and frameshift PSAT1 variants which segregated with the disease.
Fetal anomalies v1.0 PSAT1 Zornitza Stark reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25152457; Phenotypes: Neu-Laxova syndrome 2, MIM# 616038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.9 PSAT1 Rebecca Foulger reviewed gene: PSAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 PSAT1 Rebecca Foulger Added phenotypes NEU-LAXOVA SYNDROME for gene: PSAT1
Fetal anomalies v0.1 PSAT1 Rebecca Foulger gene: PSAT1 was added
gene: PSAT1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAT1 were set to PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY