Leukodystrophy - paediatric
Gene: PSAT1
PSAT1 (phosphoserine aminotransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000135069
EnsemblGeneIds (GRCh37): ENSG00000135069
OMIM: 610936, Gene2Phenotype
PSAT1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000135069
EnsemblGeneIds (GRCh37): ENSG00000135069
OMIM: 610936, Gene2Phenotype
PSAT1 is in 14 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Neu-Laxova syndrome is a congenital lethal condition. Poor white matter development reported in one family with possible PSAT1 deficiency.
Sources: Expert listCreated: 19 Jan 2020, 5:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neu-Laxova syndrome 2 616038; ?Phosphoserine aminotransferase deficiency 610992
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Phenotypes
-
- Neu-Laxova syndrome 2 616038
- ?Phosphoserine aminotransferase deficiency 610992
- OMIM
- 610936
- Clinvar variants
- Variants in PSAT1
- Penetrance
- None
- Panels with this gene
-
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Aminoacidopathy
- Skeletal dysplasia
- Leukodystrophy - paediatric
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
History Filter Activity
19 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PSAT1 was added gene: PSAT1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list 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; ?Phosphoserine aminotransferase deficiency 610992 Review for gene: PSAT1 was set to RED