Fetal anomalies
Gene: PSAT1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Skeletal dysplasiaCreated: 28 Jan 2021, 4 p.m. | Last Modified: 28 Jan 2021, 4 p.m.
Panel Version: 1.203
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neu-Laxova syndrome 2
There is enough evidence for this gene to be rated GREEN at the next major review.Created: 20 Aug 2020, 1:18 p.m. | Last Modified: 20 Aug 2020, 1:18 p.m.
Panel Version: 1.88
Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel.Created: 19 Aug 2020, 6:22 p.m. | Last Modified: 19 Aug 2020, 6:22 p.m.
Panel Version: 1.86
6 unrelated families reported; presentation is typically antenatal/neonatal. Microcephaly, cleft palate, oedema are all reported features.Created: 30 Dec 2019, 7:13 a.m. | Last Modified: 30 Dec 2019, 7:13 a.m.
Panel Version: 1.0
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
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.Created: 7 May 2020, 3:41 p.m. | Last Modified: 7 May 2020, 3:41 p.m.
Panel Version: 1.57
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).Created: 7 May 2020, 3:31 p.m. | Last Modified: 7 May 2020, 3:31 p.m.
Panel Version: 1.54
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.Created: 7 May 2020, 3:24 p.m. | Last Modified: 7 May 2020, 3:24 p.m.
Panel Version: 1.54
DDG2P rating in original PAGE list: Probable for PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY and Probable for NEU-LAXOVA SYNDROME.Created: 11 Dec 2018, 9:05 a.m.
Tag for-review was removed from gene: PSAT1.
Source Expert Review Green was added to PSAT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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
Tag for-review tag was added to gene: PSAT1.
Gene: psat1 has been classified as Amber List (Moderate Evidence).
Gene: psat1 has been classified as Green List (High Evidence).
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
Publications for gene: PSAT1 were set to
Added phenotypes NEU-LAXOVA SYNDROME for gene: PSAT1
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