Activity

Filter

Cancel
Date Panel Item Activity
21 actions
Intellectual disability - microarray and sequencing v3.1519 C9orf72_GGGGCC Eleanor Williams commented on STR: C9orf72_GGGGCC
Intellectual disability - microarray and sequencing 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 - microarray and sequencing 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 - microarray and sequencing 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 - microarray and sequencing v3.1424 C9orf72 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Intellectual disability - microarray and sequencing v3.1424 C9orf72 Arina Puzriakova Mode of inheritance for gene: C9orf72 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Intellectual disability - microarray and sequencing 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 - microarray and sequencing v3.966 C9orf72_GGGGCC Arina Puzriakova Tag curated_removed tag was added to STR: C9orf72_GGGGCC.
Intellectual disability - microarray and sequencing v3.828 C9orf72 Catherine Snow Source: Expert Review Amber was removed from gene: C9orf72
Intellectual disability - microarray and sequencing v2.575 C9orf72_GGGGCC Louise Daugherty Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 60 to 30.
Intellectual disability - microarray and sequencing v2.570 C9orf72_GGGGCC Louise Daugherty Classified STR: C9orf72_GGGGCC as No list
Intellectual disability - microarray and sequencing v2.570 C9orf72_GGGGCC Louise Daugherty Str: c9orf72_ggggcc has been removed from the panel.
Intellectual disability - microarray and sequencing C9orf72 Ellen McDonagh commented on STR: C9orf72_GGGGCC
Intellectual disability - microarray and sequencing C9orf72 Ellen McDonagh commented on STR: C9orf72_GGGGCC
Intellectual disability - microarray and sequencing C9orf72 Ellen McDonagh edited their review of STR: C9orf72_GGGGCC
Intellectual disability - microarray and sequencing C9orf72 Ellen McDonagh Added STR to panel
Intellectual disability - microarray and sequencing C9orf72 BRIDGE consortium edited their review of C9orf72
Intellectual disability - microarray and sequencing C9orf72 BRIDGE consortium edited their review of C9orf72
Intellectual disability - microarray and sequencing C9orf72 Louise Daugherty classified C9orf72 as amber
Intellectual disability - microarray and sequencing C9orf72 Louise Daugherty commented on C9orf72
Intellectual disability - microarray and sequencing C9orf72 BRIDGE consortium reviewed C9orf72