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| Childhood onset hereditary spastic paraplegia v2.130 | ALDH3A2 | Ivone Leong Tag Q3_21_rating was removed from gene: ALDH3A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.130 | ALDH3A2 | Sarah Leigh commented on gene: ALDH3A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.129 | ALDH3A2 |
Ivone Leong Source Expert Review Green was added to ALDH3A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Childhood onset hereditary spastic paraplegia v2.78 | ALDH3A2 | Arina Puzriakova Tag Q3_21_rating tag was added to gene: ALDH3A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.78 | ALDH3A2 | Arina Puzriakova Classified gene: ALDH3A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.78 | ALDH3A2 | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.78 | ALDH3A2 | Arina Puzriakova Gene: aldh3a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.77 | ALDH3A2 | Arina Puzriakova Publications for gene: ALDH3A2 were set to 8528251; 29704247 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.76 | ALDH3A2 | Arina Puzriakova Phenotypes for gene: ALDH3A2 were changed from Sjogren-Larsson syndrome, MIM#270200 to Sjogren-Larsson syndrome, OMIM:270200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.15 | ALDH3A2 |
Zornitza Stark 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 Added comment: Early-onset spastic paraparesis is a feature of the condition. >3 families reported with biallelic variants. Sources: Expert list |
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