White matter disorders and cerebral calcification - narrow panel
Gene: ALDH3A2EnsemblGeneIds (GRCh38): ENSG00000072210
EnsemblGeneIds (GRCh37): ENSG00000072210
OMIM: 609523, Gene2Phenotype
ALDH3A2 is in 16 panels
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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
- None
- Publications
- Panels with this gene
-
- Autosomal recessive congenital ichthyosis
- Undiagnosed metabolic disorders
- Palmoplantar keratodermas
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Retinal disorders
- Inherited white matter disorders
- Adult onset leukodystrophy
- Likely inborn error of metabolism
- Childhood onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Ichthyosis and erythrokeratoderma
- Fetal anomalies
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 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ALDH3A2 was added gene: ALDH3A2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to 25655951 Phenotypes for gene: ALDH3A2 were set to Sjogren Larsson syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy