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Adult onset leukodystrophy v2.46 GLA Sarah Leigh Tag Q3_22_MOI was removed from gene: GLA.
Adult onset leukodystrophy v2.46 GLA Sarah Leigh reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v2.45 GLA Sarah Leigh Mode of inheritance for gene GLA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset leukodystrophy v1.43 GLA Eleanor Williams Tag Q3_22_expert_review was removed from gene: GLA.
Adult onset leukodystrophy v1.43 GLA Eleanor Williams changed review comment from: Comment on mode of inheritance: The mode of inheritance for this gene should be considered for change to 'X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' which would make it in line with all other GMS panels.

Wang et al 2007 (PMID: 17224688) reports the phenotypes of 44 females with GLA variants. Only 1 was considered asymptomatic. 31/41 were ascertained following diagnosis of another affected family member. 24% (9/37) reported symptoms of TIA (transient ischemic attacks) and 22% (8/36) had sustained at least one CVA (cerebrovascular accidents). They report that 7 patients had both TIA and CVA and that the prevalence of CVA in this cohort (22%) was nearly ten times higher than the prevalence in the United States (2.3% of all women older than 18 years). They say that heterozygous Fabry women should not be called carriers due to the serious nature of their symptoms.; to: Comment on mode of inheritance: The mode of inheritance for this gene should be considered for change to 'X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' which would make it in line with all other GMS panels.

Wang et al 2007 (PMID: 17224688) reports the phenotypes of 44 females with GLA variants. Only 1 was considered asymptomatic. 31/41 were ascertained following diagnosis of another affected family member. 24% (9/37) reported symptoms of TIA (transient ischemic attacks) and 22% (8/36) had sustained at least one CVA (cerebrovascular accidents). They report that 7 patients had both TIA and CVA and that the prevalence of CVA in this cohort (22%) was nearly ten times higher than the prevalence in the United States (2.3% of all women older than 18 years). They say that heterozygous Fabry women should not be called carriers due to the serious nature of their symptoms.
Adult onset leukodystrophy v1.43 GLA Eleanor Williams Added comment: Comment on mode of inheritance: The mode of inheritance for this gene should be considered for change to 'X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' which would make it in line with all other GMS panels.

Wang et al 2007 (PMID: 17224688) reports the phenotypes of 44 females with GLA variants. Only 1 was considered asymptomatic. 31/41 were ascertained following diagnosis of another affected family member. 24% (9/37) reported symptoms of TIA (transient ischemic attacks) and 22% (8/36) had sustained at least one CVA (cerebrovascular accidents). They report that 7 patients had both TIA and CVA and that the prevalence of CVA in this cohort (22%) was nearly ten times higher than the prevalence in the United States (2.3% of all women older than 18 years). They say that heterozygous Fabry women should not be called carriers due to the serious nature of their symptoms.
Adult onset leukodystrophy v1.43 GLA Eleanor Williams Mode of inheritance for gene: GLA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset leukodystrophy v1.42 GLA Eleanor Williams Tag Q3_22_MOI tag was added to gene: GLA.
Tag Q3_22_expert_review tag was added to gene: GLA.
Adult onset leukodystrophy v1.25 EPRS Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber but with recommendation for green rating following GMS review. 4 unrelated cases. Presentation generally before age of 18 but after consultation with the Genomics England clinical team it was decided that it was also appropriate to propose as green on the adult onset panel.
Adult onset leukodystrophy v0.22 KIF5A Louise Daugherty Added comment: Comment on list classification: Downgraded gene from Green to Amber from expert review David Lynch. This approach was also agreed in principle with the Genomic England clinical team (25th November 2019), the change will be flagged up in the sign-off email to the test group for this panel.
Adult onset leukodystrophy v0.19 GLA David Lynch reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.15 GLA Catherine Snow Mode of inheritance for gene GLA was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Fabry disease, Fabry disease, cardiac variant, 301500 for gene: GLA
Adult onset leukodystrophy v0.14 GLA Catherine Snow reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Fabry disease, Fabry disease, cardiac variant, 301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset leukodystrophy v0.10 GLA Louise Daugherty reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.9 GLA Ian Berry reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.8 GLA Louise Daugherty Publications for gene GLA were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.7 GLA Louise Daugherty Source Expert Review Green was added to GLA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.6 GLA Louise Daugherty Source NHS GMS was added to GLA.
Adult onset leukodystrophy v0.5 GLA Louise Daugherty gene: GLA was added
gene: GLA was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: GLA was set to