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Intellectual disability v8.127 ATXN7L3 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ATXN7L3.
Intellectual disability v8.97 ATXN7L3 Sarah Leigh Tag Q3_24_promote_green was removed from gene: ATXN7L3.
Intellectual disability v8.97 ATXN7L3 Sarah Leigh commented on gene: ATXN7L3: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v8.97 ATXN7L3 Sarah Leigh Source NHS GMS was added to ATXN7L3.
Source Expert Review Green was added to ATXN7L3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v8.36 ATXN7L3 Achchuthan Shanmugasundram Tag Q3_24_NHS_review was removed from gene: ATXN7L3.
Tag Q3_24_MOI was removed from gene: ATXN7L3.
Intellectual disability v7.3 ATXN7L3 Sarah Leigh Classified gene: ATXN7L3 as Amber List (moderate evidence)
Intellectual disability v7.3 ATXN7L3 Sarah Leigh Gene: atxn7l3 has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.2 ATXN7L3 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ATXN7L3.
Tag Q3_24_NHS_review tag was added to gene: ATXN7L3.
Tag Q3_24_MOI tag was added to gene: ATXN7L3.
Intellectual disability v7.2 ATXN7L3 Sarah Leigh gene: ATXN7L3 was added
gene: ATXN7L3 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: ATXN7L3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATXN7L3 were set to 38753057; 33731875
Phenotypes for gene: ATXN7L3 were set to syndromic neurodevelopmental disorder
Review for gene: ATXN7L3 was set to GREEN
Added comment: ATXN7L3 variants are not associated with a phenotype in OMIM or Gen2Phen. PMID: 38753057 reports five monoallelic ATXN7L3 variants in nine unrelated cases. The variants were de novo, where this could be established (8/9 cases). Common features in the cases were: global developmental delay (8/9), dysmorphic features (7/9), hypotonia (7/9), strabismus (4/6), abnormal brain MRI (6/8). ATXN7L3 protein levels were reduced and deubiquitylation was impaired, resulting in increased levels of histone H2Bub1 in the fibroblasts of an affected individual carrying the recurrent variant: NM_001382309.1: c.340C>T; p.(Arg114Ter). This finding was consistent with the increased H2Bub1 levels in Atxn7l3-null mouse embryos, who have developmental delay and embryonic lethality (PMID: 33731875).
Sources: Literature
Intellectual disability v3.1519 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Intellectual disability 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 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 v3.1421 ATXN7 Arina Puzriakova Phenotypes for gene: ATXN7 were changed from Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7, OMIM:164500
Intellectual disability v3.1420 ATXN7 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Intellectual disability 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 v3.966 ATXN7_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN7_CAG.
Intellectual disability v3.824 ATXN7 Catherine Snow Source: Expert Review Amber was removed from gene: ATXN7
Intellectual disability v2.577 ATXN7_CAG Louise Daugherty Classified STR: ATXN7_CAG as No list
Intellectual disability v2.577 ATXN7_CAG Louise Daugherty Str: atxn7_cag has been removed from the panel.
Intellectual disability ATXN7 Ellen McDonagh commented on STR: ATXN7_CAG
Intellectual disability ATXN7 Ellen McDonagh Added STR to panel
Intellectual disability ATXN7 BRIDGE consortium edited their review of ATXN7
Intellectual disability ATXN7 BRIDGE consortium edited their review of ATXN7
Intellectual disability ATXN7 Louise Daugherty classified ATXN7 as amber
Intellectual disability ATXN7 Louise Daugherty commented on ATXN7
Intellectual disability ATXN7 BRIDGE consortium reviewed ATXN7