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Newborns main panel

Gene: COL13A1

Green List (high evidence)
COL13A1 (collagen type XIII alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000197467
EnsemblGeneIds (GRCh37): ENSG00000197467
OMIM: 120350, Gene2Phenotype
COL13A1 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: Oxford Congenital Myasthenia Service have requested to be involved at the variant review stage. They will be able to assist with variant interpretation and initial management plans.
Created: 25 Sep 2024, 2:03 p.m. | Last Modified: 25 Sep 2024, 2:03 p.m.
Panel Version: 0.469
Created: 25 Sep 2024, 2:03 p.m.
Last Modified: 25 Sep 2024, 2:03 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 31081514 - 11 families
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome-19
Tags
special_consideration
OMIM
120350
Clinvar variants
Variants in COL13A1
Penetrance
None
Panels with this gene

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: COL13A1.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Congenital myasthenic syndrome-19 for gene: COL13A1

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to COL13A1. Added phenotypes Congenital myasthenic syndrome-19 for gene: COL13A1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to COL13A1. Added phenotypes Congenital myasthenic syndrome-19 for gene: COL13A1 Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: COL13A1 was added gene: COL13A1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL13A1 were set to Congenital myasthenic syndrome-19