| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.40 | COG4 | Achchuthan Shanmugasundram Tag watchlist was removed from gene: COG4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COG4 | Achchuthan Shanmugasundram reviewed gene: COG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 30290151; Phenotypes: Saul Wilson Syndrome, OMIM:618150, COG4-CDG, OMIM:319493; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COG4 |
Achchuthan Shanmugasundram Mode of inheritance for gene COG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COG4 were updated from to 30290151 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.133 | COG4 | Rebecca Foulger Phenotypes for gene: COG4 were changed from COG4-CDG 319493; Saul-Wilson syndrome to COG4-CDG 319493; Saul-Wilson syndrome 618150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.14 | COG4 | Rebecca Foulger commented on gene: COG4: New gene:disorder association added to DDG2P in March 2019: Saul-Wilson syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic. (Note that Saul-Wilson syndrome disorder was already associated with COG4 in DD-G2P but with a 'gain of function' MOP. The new entry exists in addition). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.61 | COG4 | Rebecca Foulger Mode of inheritance for gene: COG4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.60 | COG4 | Rebecca Foulger Classified gene: COG4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.60 | COG4 | Rebecca Foulger Gene: cog4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | COG4 | Rebecca Foulger edited their review of gene: COG4: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for COG4-CDG. MOI is biallelic for COG4-CDG and monoallelic for Saul-Wilson syndrome; changed MOI from 'both biallelic and monoallelic' to just 'biallelic' to match MOI of confirmed disorder only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.12 | COG4 | Rebecca Foulger commented on gene: COG4: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.12 | COG4 | Rebecca Foulger Tag watchlist tag was added to gene: COG4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.12 | COG4 | Rebecca Foulger Classified gene: COG4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.12 | COG4 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Green to Amber while panel is still V0 and unreviewed: Rated confirmed by DDG2P for COG4-CDG 319493, and Rated probable for recently-added Saul-Wilson syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.12 | COG4 | Rebecca Foulger Gene: cog4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.11 | COG4 | Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from 'biallelic to both monoallelic and biallelic': Multiple MOIs in DD-G2P download: monoallelic for Saul-Wilson syndrome, and biallelic for COG4-CDG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.11 | COG4 | Rebecca Foulger Mode of inheritance for gene: COG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.10 | COG4 | Rebecca Foulger Phenotypes for gene: COG4 were changed from COG4-CDG 319493 to COG4-CDG 319493; Saul-Wilson syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.9 | COG4 | Rebecca Foulger edited their review of gene: COG4: Added comment: New gene:disorder association added to DDG2P on 07/11/2018: Saul-Wilson syndrome. Multiple DDG2P ratings: Rated confirmed for COG4-CDG 319493 and Rated probable for Saul-Wilson syndrome: Multiple MOPs in DDG2P: gain of function for Saul-Wilson syndrome, and loss of function for COG4-CDG 319493. Multiple MOIs in DD-G2P download: monoallelic for Saul-Wilson syndrome, and biallelic for COG4-CDG.; Changed phenotypes: Saul-Wilson syndrome; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COG4 | Rebecca Foulger reviewed gene: COG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | COG4 |
Rebecca Foulger gene: COG4 was added gene: COG4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG4 were set to COG4-CDG 319493 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||