Skeletal dysplasia
Gene: COG4EnsemblGeneIds (GRCh38): ENSG00000103051
EnsemblGeneIds (GRCh37): ENSG00000103051
OMIM: 606976, Gene2Phenotype
COG4 is in 12 panels
3 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 6 Mar 2022, 5:41 p.m. | Last Modified: 6 Mar 2022, 5:41 p.m.
Panel Version: 2.176
Michael Oldridge (NHS)
specific Gly516Arg variant seen in 13 apparently unrelated individuals with Saul-Wilson syndrome (not seen on gnomAD). Presumed gain of function as loss of function variants are recessive and lead to glycosylation disorders. GreenCreated: 29 Jan 2021, 3:52 p.m. | Last Modified: 29 Jan 2021, 3:52 p.m.
Panel Version: 2.80
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Saul-Wilson syndrome, OMIM:618150
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Ivone Leong (Genomics England Curator)
This gene is associated with a phenotype in OMIM and Gene2Phenotype. This gene was added to the Cataracts panel by Zornitza Stark (Australian Genomics).
"Saul-Wilson syndrome (AD): 14 patients reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like) All have a recurrent de novo heterozygous missense variant (p.Gly516Arg). Please note bi-allelic variants cause CDG. Sources: Expert list
Zornitza Stark (Australian Genomics), 7 Jul 2020"
PMID: 30290151 suggests that the Saul-Wilson syndrome variant is gain of function. Therefore, this gene should be considered to be Green at the next review.
Sources: LiteratureCreated: 21 Dec 2020, 9:58 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Saul-Wilson syndrome, OMIM:618150; microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Saul-Wilson syndrome, OMIM:618150
- microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407
- OMIM
- 606976
- Clinvar variants
- Variants in COG4
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Likely inborn error of metabolism
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Skeletal dysplasia
- Monogenic hearing loss
- Monogenic short stature
- Fetal anomalies
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: COG4.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to COG4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: cog4 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Ivone Leong (Genomics England Curator)gene: COG4 was added gene: COG4 was added to Skeletal dysplasia. Sources: Literature for-review tags were added to gene: COG4. Mode of inheritance for gene: COG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COG4 were set to 31949312; 30290151 Phenotypes for gene: COG4 were set to Saul-Wilson syndrome, OMIM:618150; microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407 Mode of pathogenicity for gene: COG4 was set to Other Review for gene: COG4 was set to AMBER