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| Adult onset leukodystrophy v1.40 | AUH | Eleanor Williams Tag Q2_21_rating was removed from gene: AUH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v1.40 | AUH | Sarah Leigh commented on gene: AUH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v1.39 | AUH |
Eleanor Williams Source Expert Review Green was added to AUH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Adult onset leukodystrophy v1.21 | AUH | Ivone Leong Tag Q2_21_rating tag was added to gene: AUH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v1.21 | AUH | Ivone Leong Classified gene: AUH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v1.21 | AUH | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. The age of onset is between 1 to 52 years of age. Childhood onset patients have psychomotor retardation and white matter changes. There are 3 cases of adult onset of this phenotype. Patients presented with ataxia (3/3), dementia (2/3) and spasticity (2/3) and all had white matter changes. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v1.21 | AUH | Ivone Leong Gene: auh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v1.20 | AUH | Ivone Leong Phenotypes for gene: AUH were changed from 3-methylglutaconic aciduria, type I, MIM# 250950 to 3-methylglutaconic aciduria, type I, OMIM:250950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v1.19 | AUH | Ivone Leong Publications for gene: AUH were set to 20855850 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v1.4 | AUH |
Zornitza Stark gene: AUH was added gene: AUH was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AUH were set to 20855850 Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, MIM# 250950 Review for gene: AUH was set to GREEN gene: AUH was marked as current diagnostic Added comment: Onset is typically in childhood, though presentation is variable so we have this gene on both paediatric and adult panels. Specifically, two individuals with late onset disease including leukodystrophy reported. Sources: Expert list |
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