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Paroxysmal central nervous system disorders v0.173 | CACNB4 | Rebecca Foulger changed review comment from: Reviews by Andrea Nemeth and Jonathan William were uploaded (September 29th 2019) on their behalf based on email discussion of these genes to reach a consensus on the rating. Comments were received over email, and I uploaded an Amber review based on their comments.; to: Reviews by Andrea Nemeth and Jonathan Williams were uploaded (September 29th 2019) on their behalf based on email discussion of these genes to reach a consensus on the rating. Comments were received over email, and I uploaded an Amber review based on their comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.173 | CACNB4 | Rebecca Foulger changed review comment from: Comment on list classification: Downgraded CACNB4 rating from Green to Amber based on GLH review. The most recent comments from Andrea Nemeth and Jonathan William agree that there is only weak evidence to support a gene:disease association. The current evidence comes from PMID:10762541 which reports 1 family (plus another family with epilepsy), and a mouse model.; to: Comment on list classification: Downgraded CACNB4 rating from Green to Amber based on GLH review. The most recent comments from Andrea Nemeth and Jonathan Williams agree that there is only weak evidence to support a gene:disease association. The current evidence comes from PMID:10762541 which reports 1 family (plus another family with epilepsy), and a mouse model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.158 | CACNB4 | Rebecca Foulger Marked gene: CACNB4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.158 | CACNB4 | Rebecca Foulger Gene: cacnb4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.158 | CACNB4 | Rebecca Foulger commented on gene: CACNB4: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 30th 2019) on behalf of London North GLH for the GMS Neurology specialist test group for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: ? Amber. This review agrees with the recent downgrading of CACNB4 to Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.158 | CACNB4 | Robyn Labrum reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.157 | CACNB4 | Rebecca Foulger Classified gene: CACNB4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.157 | CACNB4 | Rebecca Foulger Added comment: Comment on list classification: Downgraded CACNB4 rating from Green to Amber based on GLH review. The most recent comments from Andrea Nemeth and Jonathan William agree that there is only weak evidence to support a gene:disease association. The current evidence comes from PMID:10762541 which reports 1 family (plus another family with epilepsy), and a mouse model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.157 | CACNB4 | Rebecca Foulger Gene: cacnb4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.156 | CACNB4 | Rebecca Foulger commented on gene: CACNB4: Reviews by Andrea Nemeth and Jonathan William were uploaded (September 29th 2019) on their behalf based on email discussion of these genes to reach a consensus on the rating. Comments were received over email, and I uploaded an Amber review based on their comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.156 | CACNB4 | Jonathan Williams reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.155 | CACNB4 | Andrea Nemeth reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.96 | CACNB4 | Rebecca Foulger commented on gene: CACNB4: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. A question mark was submitted for the rating because of a question over the level of evidence, therefore I uploaded an Amber review from Penny Clouston. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.95 | CACNB4 | Penny Clouston reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.94 | CACNB4 | Rebecca Foulger commented on gene: CACNB4: PMID:10762541. Escayg et al., 2000 report a C104F missense mutation in affected members of a German family with epilepsy, and in a French Canadian family with episodic ataxia type 5 (MIM:613855). The French Canadian family had 5 affected individuals in 3 generations. The proband, after age 20 years, experienced recurrent episodes of vertigo and ataxia that lasted for several hours. The proband's mother had identical episodes of vertigo and ataxia after age 30 years. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.94 | CACNB4 | Rebecca Foulger Phenotypes for gene: CACNB4 were changed from {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682; Episodic ataxia, type 5, 613855; Episodic Ataxia; EPISODIC ATAXIA, TYPE 5; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 to Episodic ataxia, type 5, 613855 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.93 | CACNB4 | Rebecca Foulger Publications for gene: CACNB4 were set to 10762541 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.42 | CACNB4 | Rebecca Foulger Mode of inheritance for gene: CACNB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.27 | CACNB4 | Rebecca Foulger Source NHS GMS was added to CACNB4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.26 | CACNB4 | Rebecca Foulger commented on gene: CACNB4: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.25 | CACNB4 | James Polke reviewed gene: CACNB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.24 | CACNB4 | Rebecca Foulger Source London North GLH was added to CACNB4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.23 | CACNB4 | Rebecca Foulger reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.22 | CACNB4 | Tracy Lester reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic ataxia, type 5, 613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.21 | CACNB4 | Rebecca Foulger Source Wessex and West Midlands GLH was added to CACNB4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.3 | CACNB4 | Ellen McDonagh Added phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682; Episodic ataxia, type 5, 613855; Episodic Ataxia; EPISODIC ATAXIA, TYPE 5; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 for gene: CACNB4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.2 | CACNB4 |
Ellen McDonagh gene: CACNB4 was added gene: CACNB4 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNB4 were set to 10762541 Phenotypes for gene: CACNB4 were set to {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682; Episodic ataxia, type 5, 613855; Episodic Ataxia; EPISODIC ATAXIA, TYPE 5; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 |