09 Mar 2022
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
09 Mar 2022
Intellectual disability - microarray and sequencing v3.1509
CACNB4
Arina Puzriakova Source NHS GMS was added to CACNB4.
06 Jul 2020
Intellectual disability - microarray and sequencing v3.143
CACNB4
Sarah Leigh Deleted their comment
06 Jul 2020
Intellectual disability - microarray and sequencing v3.143
CACNB4
Sarah Leigh Classified gene: CACNB4 as Amber List (moderate evidence)
06 Jul 2020
Intellectual disability - microarray and sequencing v3.143
CACNB4
Sarah Leigh Added comment: Comment on list classification: PMID 32176688 reports intellectual disability in homozygous sibs.
06 Jul 2020
Intellectual disability - microarray and sequencing v3.143
CACNB4
Sarah Leigh Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
06 Jul 2020
Intellectual disability - microarray and sequencing v3.142
CACNB4
Sarah Leigh Classified gene: CACNB4 as Amber List (moderate evidence)
06 Jul 2020
Intellectual disability - microarray and sequencing v3.142
CACNB4
Sarah Leigh Added comment: Comment on list classification: PMID 32176688 reports intellectual disability in homozygous sibs.
06 Jul 2020
Intellectual disability - microarray and sequencing v3.142
CACNB4
Sarah Leigh Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
06 Jul 2020
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
06 Jul 2020
Intellectual disability - microarray and sequencing v3.140
CACNB4
Sarah Leigh Publications for gene: CACNB4 were set to 0
23 Apr 2020
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
02 Aug 2017
Intellectual disability - microarray and sequencing
CACNB4
BRIDGE consortium edited their review of CACNB4
27 Jul 2017
Intellectual disability - microarray and sequencing
CACNB4
BRIDGE consortium edited their review of CACNB4
19 Jul 2017
Intellectual disability - microarray and sequencing
CACNB4
BRIDGE consortium reviewed CACNB4