Growth failure in early childhood
Gene: COG4EnsemblGeneIds (GRCh38): ENSG00000103051
EnsemblGeneIds (GRCh37): ENSG00000103051
OMIM: 606976, Gene2Phenotype
COG4 is in 12 panels
1 review
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 1:49 p.m. | Last Modified: 3 Mar 2022, 1:49 p.m.
Panel Version: 1.100
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 short stature and the authors suggest that the Saul-Wilson syndrome variant is gain of function. After consulting the Genomics England Clinical Team, it was suggested that this gene should be added to this panel for the short stature phenotype. However, the GMS specialist group should review whether the short stature is likely associated with the underlying skeletal findings.
Therefore, this gene has been given an Amber rating until further review from the GMS specialist group to see if the phenotype is appropriate for this panel.
Sources: LiteratureCreated: 21 Dec 2020, 10:20 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
- OMIM
- 606976
- Clinvar variants
- Variants in COG4
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Monogenic hearing loss
- Intellectual disability
- Fetal anomalies
- Monogenic short stature
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Bilateral congenital or childhood onset cataracts
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Early onset or syndromic epilepsy
- DDG2P
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: COG4 were changed from Saul-Wilson syndrome, OMIM:618150; microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407 to Saul-Wilson syndrome, OMIM:618150
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)
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 Growth failure in early childhood. 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