White matter disorders and cerebral calcification - narrow panel
Gene: AUH
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
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.Created: 23 Jun 2021, 12:21 p.m. | Last Modified: 23 Jun 2021, 12:21 p.m.
Panel Version: 1.21
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 listCreated: 21 Jun 2020, 6:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type I, MIM# 250950
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: AUH.
Source NHS GMS was added to AUH. Source Expert Review Green was added to AUH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: AUH was added gene: AUH was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list,Expert Review Amber Q2_21_rating tags were added to gene: AUH. Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AUH were set to 20855850; 17130438 Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, OMIM:250950