Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

BabyScreen+ newborn screening

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 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

Congenital onset.

Treatment available; also clinical trial with 3,4-diaminopyridine
Created: 5 Oct 2022, 11 p.m. | Last Modified: 5 Oct 2022, 11 p.m.
Panel Version: 0.309

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 5, MIM# 603034

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

from Rx-gene:
Current Treatment Ephedrine, 3,4-diaminopyridine, salbutamol. Acetylcholine-esterase inhibitors ineffective.


Reference 1 www.ncbi.nlm.nih.gov/books/NBK1168/#cms.Summary
Reference 2 www.ncbi.nlm.nih.gov/pubmed/30808424

Registered trials in Clinical Trials.gov:
Experimental Treatment clinicaltrials.gov/ct2/results?cond=Congenital+Myasthenia&term=&cntry=&state=&city=&dist=
Created: 28 Sep 2022, 4:27 a.m. | Last Modified: 28 Sep 2022, 4:27 a.m.
Panel Version: 0.266

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
  • BeginNGS
Phenotypes
  • Congenital myasthenic syndrome, MIM#603034
Tags
treatable clinical trial neurological
OMIM
603033
Clinvar variants
Variants in COLQ
Penetrance
None
Panels with this gene

History Filter Activity

27 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag neurological tag was added to gene: COLQ.

5 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: colq has been classified as Green List (High Evidence).

5 Oct 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: COLQ. Tag clinical trial tag was added to gene: COLQ.

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COLQ was added gene: COLQ was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COLQ were set to Congenital myasthenic syndrome, MIM#603034