Hereditary ataxia - adult onsetGene: CACNB4
On Oxford panel. ?Epilepsy panel. 2 reports in OMIM. 5 DM in HGMD. Currently tested in NHNN brain panel but we haven't found any definite DM.
Created: 27 Apr 2019, 7:39 p.m.
Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.
Only a single missense variant reported - p.Cys104Phe. Renalysis against gnomAD data is not supportive of this being a pathogenic variant.
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Episodic ataxia type 5, 613855
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Red was added to CACNB4. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Source London North GMS was added to CACNB4.
Added phenotypes Episodic ataxia type 5, 613855 for gene: CACNB4
Source NHS GMS was added to CACNB4.
Source Wessex and West Midlands GLH was added to CACNB4.
Checked panel against panel constituents. Ready to promote to version 1.
Tag treatable tag was added to gene: CACNB4.
gene: CACNB4 was added gene: CACNB4 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNB4 were set to 10762541; PMC1378014 Phenotypes for gene: CACNB4 were set to Episodic ataxia, type 5; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; Episodic Ataxia