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Intellectual disability - microarray and sequencing v3.1707 STUB1 Sarah Leigh Added comment: Comment on mode of inheritance: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous STUB1 variants have been reported in both Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768 and Spinocerebellar ataxia 48, OMIM:618093. PMIDs 34906452; 35493319 report digenic occurrence of heterozygous STUB1 variants, with TBP_CAG expansions of 41-46. They question the validy of Spinocerebellar ataxia 48 (OMIM:618093) as a condition and whether it should be included into Spinocerebellar ataxia 17 (OMIM:607136).
Intellectual disability - microarray and sequencing v3.1707 STUB1 Sarah Leigh Mode of inheritance for gene: STUB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v3.1706 STUB1 Sarah Leigh Phenotypes for gene: STUB1 were changed from Spinocerebellar ataxia, autosomal recessive 16, 615768 to Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768; autosomal recessive spinocerebellar ataxia 16, MONDO:0014339; Spinocerebellar ataxia 48, OMIM:618093; spinocerebellar ataxia 48, MONDO:0032526
Intellectual disability - microarray and sequencing v3.1705 STUB1 Sarah Leigh Publications for gene: STUB1 were set to 24312598
Intellectual disability - microarray and sequencing v3.928 STUB1 Arina Puzriakova Source: Expert Review Amber was removed from gene: STUB1
Intellectual disability - microarray and sequencing STUB1 BRIDGE consortium edited their review of STUB1
Intellectual disability - microarray and sequencing STUB1 BRIDGE consortium edited their review of STUB1
Intellectual disability - microarray and sequencing STUB1 Louise Daugherty classified STUB1 as amber
Intellectual disability - microarray and sequencing STUB1 Louise Daugherty commented on STUB1
Intellectual disability - microarray and sequencing STUB1 BRIDGE consortium reviewed STUB1