Childhood onset dystonia, chorea or related movement disorder
Gene: CACNB4The mode of inheritance of this gene was proposed to be changed to Both mono and biallelic in 2022 but since there is no new evidence since it was last considered by the GMS, it has been decided to keep it as just monoallelic.Created: 30 Jan 2023, 6:27 p.m. | Last Modified: 5 Feb 2023, 6:31 p.m.
Panel Version: 2.11
NHSGenomic Medicine Service consideration - limited evidence for biallelic mode of inheritance.Created: 19 Jun 2022, 11:23 p.m. | Last Modified: 19 Jun 2022, 11:23 p.m.
Panel Version: 1.237
After NHSGenomic Medicine Service consideration, the mode of inheritance of this gene has not been changedCreated: 19 Jun 2022, 11:23 p.m. | Last Modified: 19 Jun 2022, 11:23 p.m.
Panel Version: 1.237
PMID 10762541 reports monoallelic variants associated with Idiopathic Generalized Epilepsy and Episodic Ataxia and PMID 32176688 reports biallelic variants associated with severe neurodevelopmental disorder and impairs channel and non-channel functions. Therefore recommend the MOI be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.Created: 28 Jan 2021, 3:46 p.m. | Last Modified: 28 Jan 2021, 3:46 p.m.
Panel Version: 1.76
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 3 variants reported in at least 3 unrelated cases, together with supportive functional data.Created: 28 Jan 2021, 3:32 p.m. | Last Modified: 28 Jan 2021, 3:32 p.m.
Panel Version: 1.74
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
One multigenerational family reported with episodic ataxia and supportive animal model data.Created: 5 Sep 2020, 4:31 a.m. | Last Modified: 5 Sep 2020, 4:31 a.m.
Panel Version: 1.49
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Episodic ataxia, type 5, MIM#613855
Publications
Mode of inheritance for gene: CACNB4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source NHS GMS was added to CACNB4. Mode of inheritance for gene CACNB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag for-review was removed from gene: CACNB4.
Tag for-review tag was added to gene: CACNB4.
Publications for gene: CACNB4 were set to 10762541
Source PanelApp was added to CACNB4. Mode of inheritance for gene CACNB4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EPISODIC ATAXIA, TYPE 5 for gene: CACNB4 Publications for gene CACNB4 were changed from to 10762541
gene: CACNB4 was added gene: CACNB4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: CACNB4 was set to