Leukodystrophy Victorian Clinical Genetics Services
Gene: ALDH3A2EnsemblGeneIds (GRCh38): ENSG00000072210
EnsemblGeneIds (GRCh37): ENSG00000072210
OMIM: 609523, Gene2Phenotype
ALDH3A2 is in 16 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 609523
- Clinvar variants
- Variants in ALDH3A2
- Penetrance
- None
- Panels with this gene
-
- Palmoplantar keratodermas
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Adult onset leukodystrophy
- Retinal disorders
- Likely inborn error of metabolism
- Ichthyosis and erythrokeratoderma
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Childhood onset hereditary spastic paraplegia
- Autosomal recessive congenital ichthyosis
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)ALDH3A2 was added to Leukodystrophy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)ALDH3A2 was created by Sarah Leigh