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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 v1.189 HTT Arina Puzriakova Publications for gene: HTT were set to
Childhood onset dystonia, chorea or related movement disorder v1.188 HTT Arina Puzriakova Added comment: Comment on mode of inheritance: Biallelic SNVs have been reported for Lopes-Maciel-Rodan syndrome
Childhood onset dystonia, chorea or related movement disorder v1.188 HTT Arina Puzriakova Mode of inheritance for gene: HTT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.187 HTT Arina Puzriakova Classified gene: HTT as Amber List (moderate evidence)
Childhood onset dystonia, chorea or related movement disorder v1.187 HTT Arina Puzriakova Gene: htt has been classified as Amber List (Moderate Evidence).
Childhood onset dystonia, chorea or related movement disorder v1.186 HTT Arina Puzriakova reviewed gene: HTT: Rating: ; Mode of pathogenicity: None; Publications: 26740508, 27329733, 33432339; Phenotypes: Lopes-Maciel-Rodan syndrome, OMIM:617435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.186 HTT Arina Puzriakova Tag watchlist tag was added to gene: HTT.
Childhood onset dystonia, chorea or related movement disorder v1.186 HTT Arina Puzriakova Phenotypes for gene: HTT were changed from Huntington disease, 143100 to Lopes-Maciel-Rodan syndrome, OMIM:617435; LOMARS
Childhood onset dystonia, chorea or related movement disorder v1.152 GNB1 Sarah Leigh Added comment: Comment on mode of pathogenicity: Gen2Phen entry for GNB1 (https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2121) lists the mutation consequence summary as Activating
Childhood onset dystonia, chorea or related movement disorder v1.137 C9orf72_GGGGCC Sarah Leigh Added comment: Comment on list classification: Reviews for C9orf72 gene on this panel from Zornitza Stark (Australian Genomics), James Polke (North Thames GLH) & Helen Brittain (Genomics England Clinical Fellow)(https://panelapp.genomicsengland.co.uk/panels/847/gene/C9orf72/#!review), together recommend a Red rating, as the phenotype associated with this variant in this gene has an adult onset and is therefore not appropriate for a childhood gene panel.
Childhood onset dystonia, chorea or related movement disorder v1.136 AFG3L2 Sarah Leigh changed review comment from: The review by Zornitza Stark (5 Sep 2020), has raised concerns about the relevance of the phenotypes associated with variants in AFG3L2 to scope of this panel.
Helen Brittain (Genomics England Clinical Fellow) has suggested this gene should be rated Amber on Childhood onset dystonia or chorea or related movement disorder panel.
AFG3L2 is already Green on Ataxia and cerebellar anomalies - narrow (https://panelapp.genomicsengland.co.uk/panels/477/gene/AFG3L2) and Hereditary ataxia - adult onset (https://panelapp.genomicsengland.co.uk/panels/466/gene/AFG3L2) panels.; to: The review by Emily Jones (9 Jul 2019) and Zornitza Stark (5 Sep 2020), have raised concerns about the relevance of the phenotypes associated with variants in AFG3L2 to scope of this panel.
Helen Brittain (Genomics England Clinical Fellow) has suggested this gene should be rated Amber on Childhood onset dystonia or chorea or related movement disorder panel.
AFG3L2 is already Green on Ataxia and cerebellar anomalies - narrow (https://panelapp.genomicsengland.co.uk/panels/477/gene/AFG3L2) and Hereditary ataxia - adult onset (https://panelapp.genomicsengland.co.uk/panels/466/gene/AFG3L2) panels.
Childhood onset dystonia, chorea or related movement disorder v0.1 HTT Ellen McDonagh gene: HTT was added
gene: HTT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HTT were set to Huntington disease, 143100