Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Intellectual disability - microarray and sequencing v3.686 HDAC4 Arina Puzriakova commented on gene: HDAC4
Intellectual disability - microarray and sequencing v3.686 HDAC4 Arina Puzriakova Tag for-review was removed from gene: HDAC4.
Intellectual disability - microarray and sequencing v3.644 HDAC4 Zornitza Stark edited their review of gene: HDAC4: Added comment: New report of 4 different missense present in the 14-3-3 binding site, identified de novo in 7 individuals with an intellectual disability syndrome, and supporting in vitro functional assays.; Changed rating: GREEN; Changed publications: 24715439, 20691407, 31209962, https://doi.org/10.1016/j.xhgg.2020.100015
Intellectual disability - microarray and sequencing v3.510 HDAC4 Sarah Leigh changed review comment from: There are many cases of 2q37.3 terminal region (includes HDAC4) loss in PMID 30848064, however, there are only two intragenic variants in HDAC4, with a rating of VUS and as such this gene should be rated as amber.; to: There are many cases of 2q37.3 terminal region (includes HDAC4) loss in PMID 30848064, however, there are only two intragenic variants in HDAC4, with a rating of VUS.
This gene should be rated as amber at the next major review.
Intellectual disability - microarray and sequencing v3.510 HDAC4 Sarah Leigh Tag for-review tag was added to gene: HDAC4.
Intellectual disability - microarray and sequencing v3.510 HDAC4 Sarah Leigh changed review comment from: There are many cases of 2q37.3 terminal region (includes HDAC4) loss in PMID 30848064, however, there are only two intragenic variants in HDAC4, with a rating of VUS and as such the this gene should be rated as amber.; to: There are many cases of 2q37.3 terminal region (includes HDAC4) loss in PMID 30848064, however, there are only two intragenic variants in HDAC4, with a rating of VUS and as such this gene should be rated as amber.
Intellectual disability - microarray and sequencing v3.510 HDAC4 Sarah Leigh reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: None; Publications: 30848064; Phenotypes: Chromosome 2q37 deletion syndrome 600430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability - microarray and sequencing v3.424 HDAC4 Sarah Leigh Publications for gene: HDAC4 were set to
Intellectual disability - microarray and sequencing v3.0 HDAC4 Zornitza Stark reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24715439, 20691407, 31209962; Phenotypes: Brachydactyly mental retardation syndrome, Brachydactyly without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability - microarray and sequencing v2.468 HDAC4 Louise Daugherty Source Victorian Clinical Genetics Services was added to HDAC4.
Intellectual disability - microarray and sequencing HDAC4 BRIDGE consortium edited their review of HDAC4
Intellectual disability - microarray and sequencing HDAC4 BRIDGE consortium edited their review of HDAC4
Intellectual disability - microarray and sequencing HDAC4 BRIDGE consortium reviewed HDAC4