Clefting
Gene: PSAT1
PSAT1 (phosphoserine aminotransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000135069
EnsemblGeneIds (GRCh37): ENSG00000135069
OMIM: 610936, Gene2Phenotype
PSAT1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000135069
EnsemblGeneIds (GRCh37): ENSG00000135069
OMIM: 610936, Gene2Phenotype
PSAT1 is in 10 panels
1 review
Louise Daugherty (Genomics England Curator)
Comment on publications: Only 1 case clefting. Clefting not a key feature.Created: 31 May 2017, 3:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neu-Laxova syndrome 2, 616038
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Phenotypes
-
- Neu-Laxova syndrome 2, 616038
- OMIM
- 610936
- Clinvar variants
- Variants in PSAT1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
31 May 2017, Gel status: 0
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 0
Set publications
Louise Daugherty (Genomics England Curator)Publications for PSAT1 were set to 25152457
31 May 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)PSAT1 was created by LouiseD
31 May 2017, Gel status: 0
Added New Source
Louise Daugherty (Genomics England Curator)PSAT1 was added to Cleftingpanel. Sources: Expert list