Inherited white matter disorders
Gene: ALDH3A2EnsemblGeneIds (GRCh38): ENSG00000072210
EnsemblGeneIds (GRCh37): ENSG00000072210
OMIM: 609523, Gene2Phenotype
ALDH3A2 is in 16 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, is a confirmed DD gene for Sjogren-Larsson syndrome, and multiple cases with different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.Created: 12 Aug 2016, 11:23 a.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_635
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Sjogren-Larsson syndrome, OMIM:270200
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ALDH3A2 were changed from Sjogren Larsson syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy to Sjogren-Larsson syndrome, OMIM:270200; General Leukodystrophy & Mitochondrial Leukoencephalopathy
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ALDH3A2 were set to Sjogren Larsson syndrome;General Leukodystrophy & Mitochondrial Leukoencephalopathy
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ALDH3A2 were set to 25655951
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Created
Ian Berry (Leeds Genetics Laboratory)ALDH3A2 was created by [email protected]
Added New Source
Ian Berry (Leeds Genetics Laboratory)ALDH3A2 was added to Inherited white matter disorderspanel. Sources: Expert list