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  2. Congenital Myasthenia
  3. COLQ
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Congenital Myasthenia

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, more than 10 families reported.
Created: 25 Oct 2020, 10 a.m. | Last Modified: 25 Oct 2020, 10 a.m.
Panel Version: 0.45

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 5, MIM# 603034

Publications

Created: 25 Oct 2020, 10 a.m.
Last Modified: 25 Oct 2020, 10 a.m.
Panel version: 0.45

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 5, MIM# 603034
  • Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency
Tags
treatable clinical trial
OMIM
603033
Clinvar variants
Variants in COLQ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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.

25 Oct 2020, 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).

25 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, 603034; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency to Myasthenic syndrome, congenital, 5, MIM# 603034; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency

25 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COLQ were set to

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: COLQ was added gene: COLQ was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency