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Intellectual disability v3.1519 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Intellectual disability v3.1515 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN3_CAG.
Intellectual disability v3.1419 ATXN3_CAG Arina Puzriakova Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease, OMIM:109150
Intellectual disability v3.1418 ATXN3 Arina Puzriakova Mode of pathogenicity for gene: ATXN3 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability v3.1417 ATXN3 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Intellectual disability v3.1417 ATXN3 Arina Puzriakova Mode of inheritance for gene: ATXN3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Intellectual disability v3.1416 ATXN3 Arina Puzriakova Phenotypes for gene: ATXN3 were changed from Machado-Joseph disease 109150 to Machado-Joseph disease, OMIM:109150
Intellectual disability v3.1415 ATXN3 Arina Puzriakova Tag currently-ngs-unreportable tag was added to gene: ATXN3.
Intellectual disability v3.966 ATXN3_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN3_CAG.
Intellectual disability v3.823 ATXN3 Catherine Snow Source: Expert Review Amber was removed from gene: ATXN3
Intellectual disability v2.569 ATXN3_CAG Louise Daugherty Classified STR: ATXN3_CAG as No list
Intellectual disability v2.569 ATXN3_CAG Louise Daugherty Str: atxn3_cag has been removed from the panel.
Intellectual disability ATXN3 Ellen McDonagh Added STR to panel
Intellectual disability ATXN3 BRIDGE consortium edited their review of ATXN3
Intellectual disability ATXN3 BRIDGE consortium edited their review of ATXN3
Intellectual disability ATXN3 Louise Daugherty classified ATXN3 as amber
Intellectual disability ATXN3 Louise Daugherty commented on ATXN3
Intellectual disability ATXN3 BRIDGE consortium reviewed ATXN3