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Multiple pterygium syndrome_Fetal akinesia sequence
Gene: COLQ

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)

I don't know

Well established gene-disease association, more than 10 families reported. However, cannot find reports of presentation with multiple pterygia specifically.
Created: 13 Jun 2021, 7:30 a.m. | Last Modified: 13 Jun 2021, 7:30 a.m.

Panel Version: 0.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 5, MIM# 603034

Publications

Created: 13 Jun 2021, 7:30 a.m.
Last Modified: 13 Jun 2021, 7:30 a.m.
Panel version: 0.20

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Myasthenic syndrome, congenital, 5, MIM# 603034

OMIM

Clinvar variants

Variants in COLQ

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: colq has been classified as Amber List (Moderate Evidence).

13 Jun 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COLQ were changed from to Myasthenic syndrome, congenital, 5, MIM# 603034

13 Jun 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COLQ were set to

13 Jun 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COLQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

13 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: colq has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COLQ was added gene: COLQ was added to Multiple pterygium syndromeVCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COLQ was set to Unknown