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| Ataxia and cerebellar anomalies - narrow panel v3.30 | ALDH5A1 | Eleanor Williams Tag Q3_21_rating was removed from gene: ALDH5A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.30 | ALDH5A1 | Eleanor Williams reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.29 | ALDH5A1 |
Eleanor Williams Source Expert Review Green was added to ALDH5A1. Source NHS GMS was added to ALDH5A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v2.279 | ALDH5A1 | Ivone Leong Tag Q3_21_rating tag was added to gene: ALDH5A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.59 | ALDH5A1 | Sarah Leigh edited their review of gene: ALDH5A1: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in numerous cases, together with supportive functional evidence and mouse model.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.59 | ALDH5A1 | Sarah Leigh Classified gene: ALDH5A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.59 | ALDH5A1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.59 | ALDH5A1 | Sarah Leigh Gene: aldh5a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.58 | ALDH5A1 | Sarah Leigh Publications for gene: ALDH5A1 were set to 14635103 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.12 | ALDH5A1 |
Zornitza Stark gene: ALDH5A1 was added gene: ALDH5A1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH5A1 were set to 14635103 Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Review for gene: ALDH5A1 was set to GREEN gene: ALDH5A1 was marked as current diagnostic Added comment: Over 50 unrelated families reported. Ataxia is part of the phenotype, which also includes developmental delay, hypotonia, intellectual disability, seizures, hyperkinetic behaviour, aggression, and sleep disturbances. Sources: Expert list |
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