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Intellectual disability v3.1519 C9orf72_GGGGCC Eleanor Williams commented on STR: C9orf72_GGGGCC
Intellectual disability v3.1515 C9orf72_GGGGCC Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24.
Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
Source NHS GMS was added to STR: C9orf72_GGGGCC.
Intellectual disability v3.1426 C9orf72_GGGGCC Arina Puzriakova Phenotypes for STR: C9orf72_GGGGCC were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
Intellectual disability v3.1425 C9orf72 Arina Puzriakova Mode of pathogenicity for gene: C9orf72 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 v3.1424 C9orf72 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Intellectual disability v3.1424 C9orf72 Arina Puzriakova Mode of inheritance for gene: C9orf72 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Intellectual disability v3.1423 C9orf72 Arina Puzriakova Phenotypes for gene: C9orf72 were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
Intellectual disability v3.966 C9orf72_GGGGCC Arina Puzriakova Tag curated_removed tag was added to STR: C9orf72_GGGGCC.
Intellectual disability v3.828 C9orf72 Catherine Snow Source: Expert Review Amber was removed from gene: C9orf72
Intellectual disability v2.575 C9orf72_GGGGCC Louise Daugherty Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 60 to 30.
Intellectual disability v2.570 C9orf72_GGGGCC Louise Daugherty Classified STR: C9orf72_GGGGCC as No list
Intellectual disability v2.570 C9orf72_GGGGCC Louise Daugherty Str: c9orf72_ggggcc has been removed from the panel.
Intellectual disability C9orf72 Ellen McDonagh commented on STR: C9orf72_GGGGCC
Intellectual disability C9orf72 Ellen McDonagh commented on STR: C9orf72_GGGGCC
Intellectual disability C9orf72 Ellen McDonagh edited their review of STR: C9orf72_GGGGCC
Intellectual disability C9orf72 Ellen McDonagh Added STR to panel
Intellectual disability C9orf72 BRIDGE consortium edited their review of C9orf72
Intellectual disability C9orf72 BRIDGE consortium edited their review of C9orf72
Intellectual disability C9orf72 Louise Daugherty classified C9orf72 as amber
Intellectual disability C9orf72 Louise Daugherty commented on C9orf72
Intellectual disability C9orf72 BRIDGE consortium reviewed C9orf72