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DDG2P v3.40 | CACNA1G | Achchuthan Shanmugasundram Tag watchlist was removed from gene: CACNA1G. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | CACNA1G | Achchuthan Shanmugasundram reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, CACNA1G-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | CACNA1G |
Achchuthan Shanmugasundram Source Expert Review Green was added to CACNA1G. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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DDG2P v1.158 | CACNA1G | Rebecca Foulger commented on gene: CACNA1G: Added 'watchlist' tag to highlight different G2P ratings for different disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.158 | CACNA1G | Rebecca Foulger Tag watchlist tag was added to gene: CACNA1G. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.158 | CACNA1G | Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from BIALLELIC to MONOALLELIC to reflect MOI of the disorder with the highest disease confidence (CACNA1G-related developmental disorder (monoallelic). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.158 | CACNA1G | Rebecca Foulger Mode of inheritance for gene: CACNA1G was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.157 | CACNA1G | Rebecca Foulger Classified gene: CACNA1G as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.157 | CACNA1G | Rebecca Foulger Added comment: Comment on list classification: Updated from Red to Amber for new disorder: CACNA1G-related developmental disorder (monoallelic). G2P Disease confidence: probable. G2P allelic requirement: monoallelic. G2P mutation consequence:loss of function. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.157 | CACNA1G | Rebecca Foulger Gene: cacna1g has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.156 | CACNA1G |
Rebecca Foulger changed review comment from: Original DDG2P rating: possible. ; to: Original DDG2P rating for AUTOSOMAL RECESSIVE MENTAL RETARDATION: possible. Allelic requirement: biallelic. Mutation consequence: loss of function. |
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DDG2P v1.156 | CACNA1G | Rebecca Foulger Phenotypes for gene: CACNA1G were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; CACNA1G-related developmental disorder (monoallelic) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | CACNA1G | Rebecca Foulger reviewed gene: CACNA1G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | CACNA1G |
Rebecca Foulger gene: CACNA1G was added gene: CACNA1G was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CACNA1G was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNA1G were set to 21937992 Phenotypes for gene: CACNA1G were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |