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| Adult onset leukodystrophy v3.18 | SPG21 | Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: SPG21. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v3.18 | SPG21 | Sarah Leigh edited their review of gene: SPG21: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v3.17 | SPG21 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SPG21. Source NHS GMS was added to SPG21. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Adult onset leukodystrophy v3.2 | SPG21 | Sarah Leigh edited their review of gene: SPG21: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least three variants have been reported in three unrelated cases (PMIDs: 14564668, 24451228, 28752238), together with a supportive mouse model (PMID: 26978163).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v3.2 | SPG21 | Sarah Leigh Tag Q2_23_promote_green tag was added to gene: SPG21. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v3.2 | SPG21 | Sarah Leigh Classified gene: SPG21 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v3.2 | SPG21 | 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 v3.2 | SPG21 | Sarah Leigh Gene: spg21 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v1.4 | SPG21 |
Zornitza Stark gene: SPG21 was added gene: SPG21 was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG21 were set to 14564668 Phenotypes for gene: SPG21 were set to Mast syndrome, MIM# 248900 Review for gene: SPG21 was set to GREEN Added comment: Three patients reported with white matter abnormalities, diagnosed with Mast syndrome. Sources: Expert list |
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