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Paroxysmal central nervous system disorders v1.4 PDE2A Zornitza Stark reviewed gene: PDE2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32467598, 32196122, 29392776; Phenotypes: Paroxysmal dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.138 PDE2A Robyn Labrum changed review comment from: Only identified in one family with infantile?onset chorea?predominant movement disorder. Only sufficient evidence for amber.; to: Only identified in one family with infantile onset chorea predominant movement disorder. Only sufficient evidence for amber.
Paroxysmal central nervous system disorders v0.136 PDE2A Rebecca Foulger Marked gene: PDE2A as ready
Paroxysmal central nervous system disorders v0.136 PDE2A Rebecca Foulger Gene: pde2a has been classified as Amber List (Moderate Evidence).
Paroxysmal central nervous system disorders v0.123 PDE2A Rebecca Foulger changed review comment from: Comment on list classification: Demoted PDE2A from Green to Amber based on updated Amber recent reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH: insufficient evidence to support a gene:disease association at this time.; to: Comment on list classification: Demoted PDE2A from Green to Amber based on updated Amber reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH: insufficient evidence to support a gene:disease association at this time.
Paroxysmal central nervous system disorders v0.120 PDE2A Rebecca Foulger changed review comment from: Comment on list classification: Demoted PDE2A from Green to Amber based on updated Amber reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH: insufficient evidence to support a gene:disease association at this time.; to: Comment on list classification: Demoted PDE2A from Green to Amber based on updated Amber recent reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH: insufficient evidence to support a gene:disease association at this time.
Paroxysmal central nervous system disorders v0.107 PDE2A Rebecca Foulger Classified gene: PDE2A as Amber List (moderate evidence)
Paroxysmal central nervous system disorders v0.107 PDE2A Rebecca Foulger Added comment: Comment on list classification: Demoted PDE2A from Green to Amber based on updated Amber reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH: insufficient evidence to support a gene:disease association at this time.
Paroxysmal central nervous system disorders v0.107 PDE2A Rebecca Foulger Gene: pde2a has been classified as Amber List (Moderate Evidence).
Paroxysmal central nervous system disorders v0.106 PDE2A Rebecca Foulger changed review comment from: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North 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. Suggested rating: Amber.; to: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North 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. Suggested rating: Green/Amber- an Amber review was uploaded based on the associated comment suggesting limited evidence.
Paroxysmal central nervous system disorders v0.106 PDE2A Rebecca Foulger Phenotypes for gene: PDE2A were changed from to infantile‐onset chorea‐predominant movement disorder
Paroxysmal central nervous system disorders v0.105 PDE2A Rebecca Foulger Publications for gene: PDE2A were set to
Paroxysmal central nervous system disorders v0.104 PDE2A Rebecca Foulger Added comment: Comment on mode of inheritance: Set Mode of Inheritance as biallelic to match MOI suggestions from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.104 PDE2A Rebecca Foulger Mode of inheritance for gene: PDE2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.98 PDE2A Rebecca Foulger commented on gene: PDE2A: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North 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. Suggested rating: Amber.
Paroxysmal central nervous system disorders v0.97 PDE2A Robyn Labrum reviewed gene: PDE2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: infantile?onset chorea?predominant movement disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.96 PDE2A Rebecca Foulger commented on gene: PDE2A: 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. This rating is for a gene (PDE2A) previously added to the panel by London North GLH. Suggested rating: Amber.
Paroxysmal central nervous system disorders v0.95 PDE2A Penny Clouston reviewed gene: PDE2A: Rating: AMBER; Mode of pathogenicity: ; Publications: 29392776; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.27 PDE2A Rebecca Foulger Source NHS GMS was added to PDE2A.
Paroxysmal central nervous system disorders v0.26 PDE2A Rebecca Foulger reviewed gene: PDE2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PDE2A James Polke reviewed gene: PDE2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.24 PDE2A Rebecca Foulger gene: PDE2A was added
gene: PDE2A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green,London North GLH
Mode of inheritance for gene: PDE2A was set to