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Adult onset neurodegenerative disorder v9.2 NOTCH3 Ida Ertmanska Tag Q2_26_MOI tag was added to gene: NOTCH3.
Adult onset neurodegenerative disorder v9.2 NOTCH3 Ida Ertmanska commented on gene: NOTCH3: Comment on mode of inheritance: Both monoallelic and biallelic variants (cysteine-involving missense variants) are known to cause CADASIL spectrum phenotype, which in many cases includes neurodegeneration leading to dementia. Hence, the MOI should be changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next update.
Adult onset neurodegenerative disorder v9.2 NOTCH3 Ida Ertmanska reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39191170; Phenotypes: Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, OMIM:621295, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310, cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, MONDO:0000914; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v9.2 NOTCH3 Ida Ertmanska Deleted their review
Adult onset neurodegenerative disorder v9.2 NOTCH3 Ida Ertmanska Deleted their comment
Adult onset neurodegenerative disorder v9.2 NOTCH3 Ida Ertmanska Deleted their comment
Adult onset neurodegenerative disorder v9.2 NOTCH3 Ida Ertmanska Tag Q2_26_MOI was removed from gene: NOTCH3.
Adult onset neurodegenerative disorder v9.2 NOTCH3 Ida Ertmanska Publications for gene: NOTCH3 were set to 31960911
Adult onset neurodegenerative disorder v9.1 NOTCH3 Ida Ertmanska Tag Q2_26_MOI tag was added to gene: NOTCH3.
Adult onset neurodegenerative disorder v9.1 NOTCH3 Ida Ertmanska commented on gene: NOTCH3: Comment on mode of inheritance: Both monoallelic and biallelic variants (cysteine-involving missense variants) are known to cause CADASIL spectrum phenotype. Hence, the MOI should be changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next update.
Adult onset neurodegenerative disorder v9.1 NOTCH3 Ida Ertmanska reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39191170; Phenotypes: Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, OMIM:621295, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310, cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, MONDO:0000914; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v2.106 NOTCH3 Ivone Leong Phenotypes for gene: NOTCH3 were changed from Dementia to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310
Adult onset neurodegenerative disorder v2.15 NOTCH3 Eleanor Williams Publications for gene: NOTCH3 were set to
Adult onset neurodegenerative disorder v2.14 NOTCH3 Eleanor Williams reviewed gene: NOTCH3: Rating: ; Mode of pathogenicity: None; Publications: 31960911; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v1.106 NOTCH3 Louise Daugherty edited their review of gene: NOTCH3: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.101 NOTCH3 Louise Daugherty commented on gene: NOTCH3: 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. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.100 NOTCH3 Louise Daugherty Source Wessex and West Midlands GLH was added to NOTCH3.
Adult onset neurodegenerative disorder v1.99 NOTCH3 Tracy Lester reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.74 NOTCH3 Louise Daugherty commented on gene: NOTCH3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.72 NOTCH3 Nick Beauchamp reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.67 NOTCH3 Louise Daugherty Source Yorkshire and North East GLH was added to NOTCH3.
Adult onset neurodegenerative disorder v1.11 NOTCH3 Louise Daugherty reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 NOTCH3 James Polke reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.9 NOTCH3 Louise Daugherty Source NHS GMS was added to NOTCH3.
Adult onset neurodegenerative disorder v1.8 NOTCH3 Louise Daugherty Source London North GLH was added to NOTCH3.
Adult onset neurodegenerative disorder v0.2 NOTCH3 Rebecca Foulger gene: NOTCH3 was added
gene: NOTCH3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH3 were set to Dementia