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Intellectual disability - microarray and sequencing v3.1519 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Intellectual disability - microarray and sequencing v3.1515 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Source NHS GMS was added to STR: ATXN7_CAG.
Intellectual disability - microarray and sequencing v3.1422 ATXN7_CAG Arina Puzriakova Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7, OMIM:164500
Intellectual disability - microarray and sequencing v3.1421 ATXN7 Arina Puzriakova Phenotypes for gene: ATXN7 were changed from Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7, OMIM:164500
Intellectual disability - microarray and sequencing v3.1420 ATXN7 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Intellectual disability - microarray and sequencing v3.1420 ATXN7 Arina Puzriakova Mode of inheritance for gene: ATXN7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Intellectual disability - microarray and sequencing v3.966 ATXN7_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN7_CAG.
Intellectual disability - microarray and sequencing v3.824 ATXN7 Catherine Snow Source: Expert Review Amber was removed from gene: ATXN7
Intellectual disability - microarray and sequencing v2.577 ATXN7_CAG Louise Daugherty Classified STR: ATXN7_CAG as No list
Intellectual disability - microarray and sequencing v2.577 ATXN7_CAG Louise Daugherty Str: atxn7_cag has been removed from the panel.
Intellectual disability - microarray and sequencing ATXN7 Ellen McDonagh commented on STR: ATXN7_CAG
Intellectual disability - microarray and sequencing ATXN7 Ellen McDonagh Added STR to panel
Intellectual disability - microarray and sequencing ATXN7 BRIDGE consortium edited their review of ATXN7
Intellectual disability - microarray and sequencing ATXN7 BRIDGE consortium edited their review of ATXN7
Intellectual disability - microarray and sequencing ATXN7 Louise Daugherty classified ATXN7 as amber
Intellectual disability - microarray and sequencing ATXN7 Louise Daugherty commented on ATXN7
Intellectual disability - microarray and sequencing ATXN7 BRIDGE consortium reviewed ATXN7