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Hereditary neuropathy v1.441 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Hereditary neuropathy v1.439 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Hereditary neuropathy v1.439 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.434 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Source NHS GMS was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary neuropathy v1.420 ATXN2_CAG Arina Puzriakova Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Hereditary neuropathy v1.55 ATXN2_CAG Louise Daugherty reviewed STR: ATXN2_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.47 ATXN2_CAG Louise Daugherty Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2 183090
Hereditary neuropathy v1.41 ATXN2_CAG Arianna Tucci Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090
Hereditary neuropathy v1.41 ATXN2_CAG Arianna Tucci Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090
Hereditary neuropathy v1.37 ATXN2_CAG Louise Daugherty Tag STR tag was added to STR: ATXN2_CAG.
Hereditary neuropathy v1.32 ATXN2_CAG Arianna Tucci Marked STR: ATXN2_CAG as ready
Hereditary neuropathy v1.32 ATXN2_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary neuropathy v1.32 ATXN2_CAG Arianna Tucci Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.32 ATXN2_CAG Arianna Tucci Classified STR: ATXN2_CAG as Green List (high evidence)
Hereditary neuropathy v1.32 ATXN2_CAG Arianna Tucci Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.32 ATXN2_CAG Arianna Tucci Classified STR: ATXN2_CAG as Green List (high evidence)
Hereditary neuropathy v1.32 ATXN2_CAG Arianna Tucci Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.31 ATXN2_CAG Arianna Tucci STR: ATXN2_CAG was added
STR: ATXN2_CAG was added to Hereditary neuropathy. Sources: Expert Review
Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for STR: ATXN2_CAG was set to GREEN
STR: ATXN2_CAG was marked as current diagnostic
Added comment: Sources: Expert Review