Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Intellectual disability - microarray and sequencing v3.1510 CACNB4 Sarah Leigh commented on gene: CACNB4: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability - microarray and sequencing v3.1509 CACNB4 Arina Puzriakova Source NHS GMS was added to CACNB4.
Intellectual disability - microarray and sequencing v3.143 CACNB4 Sarah Leigh Deleted their comment
Intellectual disability - microarray and sequencing v3.143 CACNB4 Sarah Leigh Classified gene: CACNB4 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v3.143 CACNB4 Sarah Leigh Added comment: Comment on list classification: PMID 32176688 reports intellectual disability in homozygous sibs.
Intellectual disability - microarray and sequencing v3.143 CACNB4 Sarah Leigh Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v3.142 CACNB4 Sarah Leigh Classified gene: CACNB4 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v3.142 CACNB4 Sarah Leigh Added comment: Comment on list classification: PMID 32176688 reports intellectual disability in homozygous sibs.
Intellectual disability - microarray and sequencing v3.142 CACNB4 Sarah Leigh Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v3.141 CACNB4 Sarah Leigh Mode of inheritance for gene: CACNB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v3.140 CACNB4 Sarah Leigh Publications for gene: CACNB4 were set to 0
Intellectual disability - microarray and sequencing v3.31 CACNB4 Zornitza Stark reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: None; Publications: 32176688; Phenotypes: Intellectual disability, epilepsy, movement disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing CACNB4 BRIDGE consortium edited their review of CACNB4
Intellectual disability - microarray and sequencing CACNB4 BRIDGE consortium edited their review of CACNB4
Intellectual disability - microarray and sequencing CACNB4 BRIDGE consortium reviewed CACNB4