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| Adult onset leukodystrophy v2.46 | PSEN1 |
Sarah Leigh Tag Q1_23_promote_green was removed from gene: PSEN1. Tag Q1_23_NHS_review was removed from gene: PSEN1. |
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| Adult onset leukodystrophy v2.46 | PSEN1 | Sarah Leigh commented on gene: PSEN1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.45 | PSEN1 |
Sarah Leigh Source Expert Review Green was added to PSEN1. Source NHS GMS was added to PSEN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Adult onset leukodystrophy v2.30 | PSEN1 | Sarah Leigh edited their review of gene: PSEN1: Added comment: PSEN1 variants are sssociated with OMIM:607822 & OMIM:600274, but not with a phenotype in Gen2Phen. Numerous PSEN1 variants have been reported in these conditions and PSEN1 related cerebral amyloid angiopathy is seen within a number of cases of Alzheimer disease, type 3 (OMIM:607822)(PMID: 26888304,11489138, 11395394, 34319632).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.30 | PSEN1 |
Sarah Leigh Tag Q1_23_promote_green tag was added to gene: PSEN1. Tag Q1_23_NHS_review tag was added to gene: PSEN1. |
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| Adult onset leukodystrophy v2.30 | PSEN1 | Sarah Leigh Classified gene: PSEN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.30 | PSEN1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.30 | PSEN1 | Sarah Leigh Gene: psen1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.29 | PSEN1 | Sarah Leigh Mode of inheritance for gene: PSEN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.28 | PSEN1 | Sarah Leigh Phenotypes for gene: PSEN1 were changed from to Alzheimer disease, type 3, OMIM:607822; Alzheimer disease 3, MONDO:0011913; Dementia, frontotemporal, OMIM:600274; semantic dementia, MONDO:0010857 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.27 | PSEN1 | Sarah Leigh Publications for gene: PSEN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.3 | PSEN1 | Eleanor Williams reviewed gene: PSEN1: Rating: ; Mode of pathogenicity: ; Publications: 34319632, 26888304, 11489138, 11395394; Phenotypes: PSEN1 related cerebral amyloid angiopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.2 | PSEN1 |
Eleanor Williams gene: PSEN1 was added gene: PSEN1 was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: PSEN1 was set to |
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