This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
Gene: ALDH3A2
ALDH3A2 (aldehyde dehydrogenase 3 family member A2)
EnsemblGeneIds (GRCh38): ENSG00000072210
EnsemblGeneIds (GRCh37): ENSG00000072210
OMIM: 609523, Gene2Phenotype
ALDH3A2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000072210
EnsemblGeneIds (GRCh37): ENSG00000072210
OMIM: 609523, Gene2Phenotype
ALDH3A2 is in 16 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Phenotypes
-
- Sjogren-Larsson syndrome, 270200
- OMIM
- 609523
- Clinvar variants
- Variants in ALDH3A2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Autosomal recessive congenital ichthyosis
- White matter disorders and cerebral calcification - narrow panel
- Palmoplantar keratodermas
- Hereditary neuropathy
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Retinal disorders
- Likely inborn error of metabolism
- Ichthyosis and erythrokeratoderma
History Filter Activity
11 May 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)ALDH3A2 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Literature
11 May 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)ALDH3A2 was created by rfoulger