DDG2P
Gene: COG4
The DDG2P confidence category for the disease Saul Wilson Syndrome, OMIM:618150 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30290151). The DDG2P confidence category for the disease COG4-CDG, OMIM:319493 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Saul Wilson Syndrome, OMIM:618150; COG4-CDG, OMIM:319493
Publications
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).Created: 19 Apr 2019, 2:39 p.m.
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.Created: 28 Jan 2019, 2:29 p.m.
Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.Created: 27 Nov 2018, 10:30 a.m.
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.Created: 27 Nov 2018, 10:29 a.m.
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.Created: 27 Nov 2018, 10:25 a.m.
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.Created: 27 Nov 2018, 10:20 a.m.
Original DDG2P rating: confirmed.Created: 19 Nov 2018, 11:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Saul-Wilson syndrome
Tag watchlist was removed from gene: COG4.
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
Phenotypes for gene: COG4 were changed from COG4-CDG 319493; Saul-Wilson syndrome to COG4-CDG 319493; Saul-Wilson syndrome 618150
Rebecca Foulger: Original DDG2P rating: confirm
Mode of inheritance for gene: COG4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Gene: cog4 has been classified as Green List (High Evidence).
Tag watchlist tag was added to gene: COG4.
Gene: cog4 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: COG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COG4 were changed from COG4-CDG 319493 to COG4-CDG 319493; Saul-Wilson syndrome
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