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Childhood onset dystonia, chorea or related movement disorder v7.7 CACNB4 Eleanor Williams Tag Q3_25_MOI tag was added to gene: CACNB4.
Childhood onset dystonia, chorea or related movement disorder v7.7 CACNB4 Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotypes correct at 30th September 2025
Childhood onset dystonia, chorea or related movement disorder v7.7 CACNB4 Eleanor Williams Phenotypes for gene: CACNB4 were changed from ?Episodic ataxia, type 5, OMIM:613855; episodic ataxia type 5, MONDO:0013464; {Epilepsy, idiopathic generalized, susceptibility to, 9}, OMIM:607682; {Epilepsy, juvenile myoclonic, susceptibility to, 6}, OMIM:607682; epilepsy, idiopathic generalized, susceptibility to, 9, MONDO:0011892; neurodevelopmental disorder, MONDO:0700092 to ?Episodic ataxia, type 5, OMIM:613855; episodic ataxia type 5, MONDO:0013464; {Epilepsy, idiopathic generalized, susceptibility to, 9}, OMIM:607682; {Epilepsy, juvenile myoclonic, susceptibility to, 6}, OMIM:607682; epilepsy, idiopathic generalized, susceptibility to, 9, MONDO:0011892; neurodevelopmental disorder, MONDO:0700092
Childhood onset dystonia, chorea or related movement disorder v7.6 CACNB4 Achchuthan Shanmugasundram changed review comment from: PMID:10762541 (2000) reported the identification of two different monoallelic variants (p.Arg482Ter and p.Cys104Phe) in CACNB4 gene in three unrelated families. The p.Arg482Ter variant was reported in a patient with juvenile myoclonic epilepsy. The missense p.Cys104Phe variant was identified both in a German family with generalized epilepsy and praxis-induced seizures and in a French Canadian family with episodic ataxia.

There are no other patients reported with monoallelic CACNB4 variants in published scientific literature.

Monoallelic CACNB4 variants have been associated with both episodic ataxia and epilepsy phenotypes in OMIM (MIMs #613855 & #607682, phenotypes accessed on 29 September 2025) and with CACNB4-related juvenile myoclonic epilepsy in Gene2Phenotype (with 'limited' rating on the DD panel).

PMID:32176688 (2020) reported two siblings with intellectual disability, psychomotor retardation, blindness, epilepsy, movement disorder and cerebellar atrophy. They were identified with rare homozygous variants in the genes LTBP1, EMILIN1, CACNB4, MINAR1, DHX38 and MYO15 by whole-exome sequencing. The authors identified using in silico tools, animal model, clinical, and genetic data that the p.Leu126Pro variant in CACNB4 gene to be likely pathogenic.

Biallelic CACNB4 variants have not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype.; to: PMID:10762541 (2000) reported the identification of two different monoallelic variants (p.Arg482Ter and p.Cys104Phe) in CACNB4 gene in three unrelated families. The p.Arg482Ter variant was reported in a patient with juvenile myoclonic epilepsy. The missense p.Cys104Phe variant was identified both in a German family with generalized epilepsy and praxis-induced seizures and in a French Canadian family with episodic ataxia. In addition, p.Cys104Phe has been identified in over 1,000 alleles in gnomAD - https://gnomad.broadinstitute.org/variant/2-151880879-C-A?dataset=gnomad_r4.

There are no other patients reported with monoallelic CACNB4 variants in published scientific literature.

Monoallelic CACNB4 variants have been associated with both episodic ataxia and epilepsy phenotypes in OMIM (MIMs #613855 & #607682, phenotypes accessed on 29 September 2025) and with CACNB4-related juvenile myoclonic epilepsy in Gene2Phenotype (with 'limited' rating on the DD panel).

PMID:32176688 (2020) reported two siblings with intellectual disability, psychomotor retardation, blindness, epilepsy, movement disorder and cerebellar atrophy. They were identified with rare homozygous variants in the genes LTBP1, EMILIN1, CACNB4, MINAR1, DHX38 and MYO15 by whole-exome sequencing. The authors identified using in silico tools, animal model, clinical, and genetic data that the p.Leu126Pro variant in CACNB4 gene to be likely pathogenic.

Biallelic CACNB4 variants have not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype.
Childhood onset dystonia, chorea or related movement disorder v7.6 CACNB4 Achchuthan Shanmugasundram Classified gene: CACNB4 as Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v7.6 CACNB4 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is only one family reported with monoallelic CACNB4 variants and episodic ataxia. Other two families were reported with epilepsy. There is also one family reported with biallelic CACNB4 variants and a phenotype including movement disorder. Hence, this gene should be recommended for demotion from green to red in the next GMS update.

In addition, the mode of inheritance should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.
Childhood onset dystonia, chorea or related movement disorder v7.6 CACNB4 Achchuthan Shanmugasundram Gene: cacnb4 has been classified as Green List (High Evidence).
Childhood onset dystonia, chorea or related movement disorder v7.5 CACNB4 Achchuthan Shanmugasundram Phenotypes for gene: CACNB4 were changed from EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EPISODIC ATAXIA, TYPE 5 to ?Episodic ataxia, type 5, OMIM:613855; episodic ataxia type 5, MONDO:0013464; {Epilepsy, idiopathic generalized, susceptibility to, 9}, OMIM:607682; {Epilepsy, juvenile myoclonic, susceptibility to, 6}, OMIM:607682; epilepsy, idiopathic generalized, susceptibility to, 9, MONDO:0011892; neurodevelopmental disorder, MONDO:0700092
Childhood onset dystonia, chorea or related movement disorder v7.4 CACNB4 Achchuthan Shanmugasundram Tag Q3_25_expert_review tag was added to gene: CACNB4.
Tag Q3_25_demote_red tag was added to gene: CACNB4.
Childhood onset dystonia, chorea or related movement disorder v7.4 CACNB4 Achchuthan Shanmugasundram reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: None; Publications: 10762541, 32176688; Phenotypes: ?Episodic ataxia, type 5, OMIM:613855, episodic ataxia type 5, MONDO:0013464, {Epilepsy, idiopathic generalized, susceptibility to, 9}, OMIM:607682, {Epilepsy, juvenile myoclonic, susceptibility to, 6}, OMIM:607682, epilepsy, idiopathic generalized, susceptibility to, 9, MONDO:0011892, neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v2.11 CACNB4 Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; to: The 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.
Childhood onset dystonia, chorea or related movement disorder v2.11 CACNB4 Eleanor Williams Mode of inheritance for gene: CACNB4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder v2.10 CACNB4 Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated toBOTH monoallelic and biallelic, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v2.10 CACNB4 Eleanor Williams commented on gene: CACNB4
Childhood onset dystonia, chorea or related movement disorder v2.8 CACNB4 Eleanor Williams 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
Childhood onset dystonia, chorea or related movement disorder v1.237 CACNB4 Eleanor Williams Tag for-review was removed from gene: CACNB4.
Childhood onset dystonia, chorea or related movement disorder v1.237 CACNB4 Sarah Leigh commented on gene: CACNB4: NHSGenomic Medicine Service consideration - limited evidence for biallelic mode of inheritance.
Childhood onset dystonia, chorea or related movement disorder v1.237 CACNB4 Sarah Leigh commented on gene: CACNB4: After NHSGenomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Childhood onset dystonia, chorea or related movement disorder v1.76 CACNB4 Sarah Leigh Tag for-review tag was added to gene: CACNB4.
Childhood onset dystonia, chorea or related movement disorder v1.76 CACNB4 Sarah Leigh edited their review of gene: CACNB4: Added comment: 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.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.75 CACNB4 Sarah Leigh Publications for gene: CACNB4 were set to 10762541
Childhood onset dystonia, chorea or related movement disorder v1.74 CACNB4 Sarah Leigh commented on gene: CACNB4: 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.
Childhood onset dystonia, chorea or related movement disorder v1.74 CACNB4 Sarah Leigh reviewed gene: CACNB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32176688; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.49 CACNB4 Zornitza Stark reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: None; Publications: 10762541, 9628818, 27003325; Phenotypes: Episodic ataxia, type 5, MIM#613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder v0.7 CACNB4 Ellen McDonagh 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
Childhood onset dystonia, chorea or related movement disorder v0.0 CACNB4 Ellen McDonagh 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