Hereditary neuropathy
Gene: ALDH3A2EnsemblGeneIds (GRCh38): ENSG00000072210
EnsemblGeneIds (GRCh37): ENSG00000072210
OMIM: 609523, Gene2Phenotype
ALDH3A2 is in 16 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Hereditary Neuropathies
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Sjogren Larsson syndromeCreated: 9 Dec 2015, 8:49 a.m.
Mary Reilly (Institute of Neurology)
Sjogren Larsson syndromeCreated: 8 Dec 2015, 3:05 p.m.
Details
- Sources
-
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- Phenotypes
-
- Hereditary Neuropathies
- OMIM
- 609523
- Clinvar variants
- Variants in ALDH3A2
- Penetrance
- Complete
- Panels with this gene
-
- Retinal disorders
- Leukodystrophy, adult onset
- Likely inborn error of metabolism
- Autosomal recessive congenital ichthyosis
- White matter disorders and cerebral calcification - childhood onset
- Palmoplantar keratodermas
- Ichthyosis and erythrokeratoderma
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hereditary spastic paraplegia, childhood onset
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Fetal anomalies
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- DDG2P
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Hereditary Neuropathies for gene: ALDH3A2
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ALDH3A2.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to ALDH3A2.
Added New Source
Ellen McDonagh (Genomics England Curator)ALDH3A2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory