Childhood onset hereditary spastic paraplegia
Gene: ALDH3A2EnsemblGeneIds (GRCh38): ENSG00000072210
EnsemblGeneIds (GRCh37): ENSG00000072210
OMIM: 609523, Gene2Phenotype
ALDH3A2 is in 16 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 14 Mar 2022, 1:30 p.m. | Last Modified: 14 Mar 2022, 1:30 p.m.
Panel Version: 2.130
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Childhood-onset spastic paraparesis is a feature of the condition associated with biallelic variants in this gene (MIM# 270200). There are sufficient unrelated cases (>3) to rate as Green at the next GMS panel update.Created: 24 Aug 2021, 3:53 p.m. | Last Modified: 24 Aug 2021, 3:53 p.m.
Panel Version: 2.78
Zornitza Stark (Australian Genomics)
Early-onset spastic paraparesis is a feature of the condition. >3 families reported with biallelic variants.
Sources: Expert listCreated: 17 Sep 2020, 8:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sjogren-Larsson syndrome, MIM#270200
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Sjogren-Larsson syndrome, OMIM:270200
- OMIM
- 609523
- Clinvar variants
- Variants in ALDH3A2
- Penetrance
- None
- 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
Removed Tag
Ivone Leong (Genomics England Curator)Tag Q3_21_rating was removed from gene: ALDH3A2.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to ALDH3A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_rating tag was added to gene: ALDH3A2.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: aldh3a2 has been classified as Amber List (Moderate Evidence).
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: ALDH3A2 were set to 8528251; 29704247
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ALDH3A2 were changed from Sjogren-Larsson syndrome, MIM#270200 to Sjogren-Larsson syndrome, OMIM:270200
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: ALDH3A2 was added gene: ALDH3A2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to 8528251; 29704247 Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, MIM#270200 Review for gene: ALDH3A2 was set to GREEN