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Intellectual disability 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 v3.1509 CACNB4 Arina Puzriakova Source NHS GMS was added to CACNB4.
Intellectual disability v3.143 CACNB4 Sarah Leigh Deleted their comment
Intellectual disability v3.143 CACNB4 Sarah Leigh Classified gene: CACNB4 as Amber List (moderate evidence)
Intellectual disability v3.143 CACNB4 Sarah Leigh Added comment: Comment on list classification: PMID 32176688 reports intellectual disability in homozygous sibs.
Intellectual disability v3.143 CACNB4 Sarah Leigh Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.142 CACNB4 Sarah Leigh Classified gene: CACNB4 as Amber List (moderate evidence)
Intellectual disability v3.142 CACNB4 Sarah Leigh Added comment: Comment on list classification: PMID 32176688 reports intellectual disability in homozygous sibs.
Intellectual disability v3.142 CACNB4 Sarah Leigh Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Intellectual disability 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 v3.140 CACNB4 Sarah Leigh Publications for gene: CACNB4 were set to 0
Intellectual disability 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 CACNB4 BRIDGE consortium edited their review of CACNB4
Intellectual disability CACNB4 BRIDGE consortium edited their review of CACNB4
Intellectual disability CACNB4 BRIDGE consortium reviewed CACNB4