PanelApp (staging)
  1. Genes and Genomic Entities
  2. COG1

COG1

component of oligomeric golgi complex 1
OMIM: 606973, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red COG1 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.225

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type IIg - MIM#611209

Green COG1 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.58

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type IIg, MIM# 611209

    Green COG1 in Mendeliome


    Version 1.2302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type IIg, MIM# 611209

    Green COG1 in Pierre Robin Sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.47

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green COG1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Congenital disorder of glycosylation, type IIg, MIM# 611209

    Green COG1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type IIg 611209

    Green COG1 in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type IIg, MIM# 611209