Childhood onset hereditary spastic paraplegia
Gene: ALDH3A2The 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
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
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
Tag Q3_21_rating was removed from gene: ALDH3A2.
Source Expert Review Green was added to ALDH3A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_21_rating tag was added to gene: ALDH3A2.
Gene: aldh3a2 has been classified as Amber List (Moderate Evidence).
Publications for gene: ALDH3A2 were set to 8528251; 29704247
Phenotypes for gene: ALDH3A2 were changed from Sjogren-Larsson syndrome, MIM#270200 to Sjogren-Larsson syndrome, OMIM:270200
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