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Cataracts

Gene: COG4

No list

COG4 (component of oligomeric golgi complex 4)
EnsemblGeneIds (GRCh38): ENSG00000103051
EnsemblGeneIds (GRCh37): ENSG00000103051
OMIM: 606976, Gene2Phenotype
COG4 is in 10 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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
Created: 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

History Filter Activity

7 Jul 2020, Gel status: 0

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