Activity
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| Adult onset leukodystrophy v2.46 | ITM2B |
Sarah Leigh Tag Q1_23_promote_green was removed from gene: ITM2B. Tag Q1_23_NHS_review was removed from gene: ITM2B. |
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| Adult onset leukodystrophy v2.46 | ITM2B | Sarah Leigh commented on gene: ITM2B: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.45 | ITM2B |
Sarah Leigh Source Expert Review Green was added to ITM2B. Source NHS GMS was added to ITM2B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Adult onset leukodystrophy v2.17 | ITM2B | Sarah Leigh Mode of inheritance for gene: ITM2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.16 | ITM2B | Sarah Leigh edited their review of gene: ITM2B: Added comment: Associated with relevant phenotypes in OMIM (OMIM:176500 & OMIM:117300), but not associated with these phenotypes in Gen2Phen. Two terminating variants have been reported, one for each of the above phenotypes (PMID: 10391242, 10781099).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.16 | ITM2B |
Sarah Leigh Tag Q1_23_promote_green tag was added to gene: ITM2B. Tag Q1_23_NHS_review tag was added to gene: ITM2B. |
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| Adult onset leukodystrophy v2.16 | ITM2B | Sarah Leigh Classified gene: ITM2B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.16 | ITM2B | 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 v2.16 | ITM2B | Sarah Leigh Gene: itm2b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.15 | ITM2B | Sarah Leigh Phenotypes for gene: ITM2B were changed from to Dementia, familial British, OMIM:176500; ABri amyloidosis, MONDO:0008306; Dementia, familial Danish, OMIM:117300; ADan amyloidosis, MONDO:0007297 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.14 | ITM2B | Sarah Leigh Publications for gene: ITM2B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.3 | ITM2B | Eleanor Williams reviewed gene: ITM2B: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial British Dementia/Familial Danish Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.2 | ITM2B |
Eleanor Williams gene: ITM2B was added gene: ITM2B was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: ITM2B was set to |
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