Monogenic hearing loss
Gene: COG4EnsemblGeneIds (GRCh38): ENSG00000103051
EnsemblGeneIds (GRCh37): ENSG00000103051
OMIM: 606976, Gene2Phenotype
COG4 is in 12 panels
2 reviews
Eleanor Williams (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. The decision was too keep an Amber rating for now.Created: 3 Mar 2022, 1:19 p.m. | Last Modified: 3 Mar 2022, 1:19 p.m.
Panel Version: 2.221
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, many of the affected patients also have hearing loss and the authors suggest 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, 9:12 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 Amber
- 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
-
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Early onset or syndromic epilepsy
- DDG2P
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Monogenic hearing loss
- Fetal anomalies
- Monogenic short stature
- Likely inborn error of metabolism
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: COG4.
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 Hearing loss. 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