Genomics England
GMS Panels
Panels
Genes and Entities

COG4

component of oligomeric golgi complex 4
OMIM: 606976
PanelMode of inheritanceDetails
8 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Saul-Wilson syndrome, OMIM:618150, microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407
Green
in Congenital disorders of glycosylation
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 6.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIj 613489, Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
COG4-CDG 319493, Saul-Wilson syndrome 618150
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COG4-CDG, Saul-Wilson syndrome, 618150
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIj, 613489, COG4-CDG (CDG-IIJ)
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 6.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency), Congenital disorder of glycosylation, type IIj 613489
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Saul-Wilson syndrome, OMIM:618150
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.16
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Saul-Wilson syndrome, OMIM:618150, microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407