Hereditary neuropathy or pain disorder
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
- NHS GMS
- South West GLH
- Phenotypes
-
- Hereditary Neuropathies
- OMIM
- 609523
- Clinvar variants
- Variants in ALDH3A2
- Penetrance
- None
- Panels with this gene
-
- Palmoplantar keratodermas
- Hereditary neuropathy
- Retinal disorders
- DDG2P
- Adult onset leukodystrophy
- Inherited white matter disorders
- Likely inborn error of metabolism
- Ichthyosis and erythrokeratoderma
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Autosomal recessive congenital ichthyosis
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ALDH3A2 was added gene: ALDH3A2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: ALDH3A2 was set to Phenotypes for gene: ALDH3A2 were set to Hereditary Neuropathies