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Intellectual disability v3.1519 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Intellectual disability v3.1515 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.
Intellectual disability v3.1415 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; {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Intellectual disability v3.1414 ATXN2 Arina Puzriakova Mode of pathogenicity for gene: ATXN2 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 v3.1413 ATXN2 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Intellectual disability v3.1413 ATXN2 Arina Puzriakova Mode of inheritance for gene: ATXN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Intellectual disability v3.1412 ATXN2 Arina Puzriakova Phenotypes for gene: ATXN2 were changed from Spinocerebellar ataxia 2 183090; {Amyotrophic lateral sclerosis, susceptibility to, 13} 183090 to Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090; {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Intellectual disability v3.1411 ATXN2 Arina Puzriakova Tag currently-ngs-unreportable tag was added to gene: ATXN2.
Intellectual disability v3.1193 ATXN2L Ivone Leong Tag watchlist tag was added to gene: ATXN2L.
Intellectual disability v3.1193 ATXN2L Ivone Leong Classified gene: ATXN2L as Amber List (moderate evidence)
Intellectual disability v3.1193 ATXN2L Ivone Leong Gene: atxn2l has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.1125 ATXN2L Zornitza Stark gene: ATXN2L was added
gene: ATXN2L was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: ATXN2L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATXN2L were set to 33283965; 33057194
Phenotypes for gene: ATXN2L were set to Intellectual disability; Macrocephaly
Review for gene: ATXN2L was set to AMBER
Added comment: Combined data from three large exome groups identified several de novo variants, including frameshift and missense, in ATXN2L in patients with developmental delay (Kaplanis et al., 2020). pLI=1.0 Limited other data available.
Single case report of a novel de novo missense variant in a child with macrocephaly and developmental delay. No functional work.
Sources: Literature
Intellectual disability v3.966 ATXN2_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN2_CAG.
Intellectual disability v3.822 ATXN2 Catherine Snow Source: Expert Review Amber was removed from gene: ATXN2
Intellectual disability v2.568 ATXN2_CAG Louise Daugherty Classified STR: ATXN2_CAG as No list
Intellectual disability v2.568 ATXN2_CAG Louise Daugherty Str: atxn2_cag has been removed from the panel.
Intellectual disability ATXN2 Ellen McDonagh Added STR to panel
Intellectual disability ATXN2 BRIDGE consortium edited their review of ATXN2
Intellectual disability ATXN2 BRIDGE consortium edited their review of ATXN2
Intellectual disability ATXN2 Louise Daugherty classified ATXN2 as amber
Intellectual disability ATXN2 Louise Daugherty commented on ATXN2
Intellectual disability ATXN2 BRIDGE consortium reviewed ATXN2