Bilateral congenital or childhood onset cataracts
Gene: COG4EnsemblGeneIds (GRCh38): ENSG00000103051
EnsemblGeneIds (GRCh37): ENSG00000103051
OMIM: 606976, Gene2Phenotype
COG4 is in 12 panels
2 reviews
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 9:09 a.m. | Last Modified: 8 Mar 2022, 9:09 a.m.
Panel Version: 2.98
Comment on mode of pathogenicity: PMID: 30290151 suggests that Saul-Wilson syndrome variant is gain of function.Created: 21 Dec 2020, 9:01 a.m. | Last Modified: 21 Dec 2020, 9:01 a.m.
Panel Version: 2.51
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 21 Dec 2020, 8:59 a.m. | Last Modified: 21 Dec 2020, 8:59 a.m.
Panel Version: 2.50
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 listCreated: 7 Jul 2020, 9:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Saul-Wilson syndrome, OMIM #618150
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- 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
-
- Congenital disorders of glycosylation
- Monogenic hearing loss
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Monogenic short stature
- Early onset or syndromic epilepsy
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: COG4.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to COG4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set mode of pathogenicity
Ivone Leong (Genomics England Curator)Mode of pathogenicity for gene: COG4 was changed from None to Other
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: COG4.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: cog4 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: COG4 were changed from Saul-Wilson syndrome, OMIM #618150 to Saul-Wilson syndrome, OMIM:618150; microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: COG4 was added gene: COG4 was added to Cataracts. Sources: Expert list Mode of inheritance for gene: COG4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COG4 were set to 31949312; 30290151 Phenotypes for gene: COG4 were set to Saul-Wilson syndrome, OMIM #618150 Review for gene: COG4 was set to GREEN gene: COG4 was marked as current diagnostic