Miscellaneous Metabolic Disorders
Gene: ALDH3A2EnsemblGeneIds (GRCh38): ENSG00000072210
EnsemblGeneIds (GRCh37): ENSG00000072210
OMIM: 609523, Gene2Phenotype
ALDH3A2 is in 15 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association (see OMIM entry), and causes an inborn error of lipid metabolism.
Sources: NHS GMSCreated: 25 Jan 2021, 12:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sjogren-Larsson syndrome MIM#270200; disorder of lipid metabolism
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Sjogren-Larsson syndrome MIM#270200
- disorder of lipid metabolism
- OMIM
- 609523
- Clinvar variants
- Variants in ALDH3A2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Ichthyosis
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: aldh3a2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: aldh3a2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ALDH3A2 was added gene: ALDH3A2 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to 8528251; 31273323 Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome MIM#270200; disorder of lipid metabolism Review for gene: ALDH3A2 was set to GREEN gene: ALDH3A2 was marked as current diagnostic