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  2. Arthrogryposis
  3. COLQ
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Arthrogryposis

Gene: COLQ

Green List (high evidence)
COLQ (collagen like tail subunit of asymmetric acetylcholinesterase)
EnsemblGeneIds (GRCh38): ENSG00000206561
EnsemblGeneIds (GRCh37): ENSG00000206561
OMIM: 603033, Gene2Phenotype
COLQ is in 4 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

10-15% congenital myasthenic syndrome which may be associated with arthrogryposis
Created: 4 Jan 2017, 9:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 5 603034

Publications

Created: 4 Jan 2017, 9:58 a.m.

Panel version: 1.117

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Myasthenic syndrome, congenital, 5 603034
OMIM
603033
Clinvar variants
Variants in COLQ
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

4 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

4 Jan 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for COLQ were set to Myasthenic syndrome, congenital, 5 603034

4 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for COLQ were set to 9689136; 11865139

4 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

21 Dec 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

COLQ was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services COLQ was added to Arthrogryposispanel. Source: Emory Genetics Laboratory Model of inheritance for gene COLQ was set to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COLQ was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COLQ was added to Arthrogryposispanel. Sources: Expert list