Congenital myaesthenic syndrome

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 5 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 30 Apr 2019, 9:30 a.m.

Michael Oldridge (NHS)

Green List (high evidence)

see PanelApp
Created: 29 Apr 2019, 4:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenic syndrome type 19; Myasthenic syndrome, congenital, 19, 616720

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Amber to Green: 1 green review from expert, plus 2 unrelated cases with additional support from mouse model.
Created: 7 Feb 2017, 4:25 p.m.
Comment on list classification: Updated rating from Grey to Amber. 1 green review (from gene submitter). 2 unrelated cases reported so far, mouse model demonstrates role of COL13A1 in NMJ development, and probable DD-G2P gene.
Created: 2 Feb 2017, 12:02 p.m.
Probable DD-G2P gene for Congenital Myasthenic Syndrome Type 19.
Created: 2 Feb 2017, noon
Mouse model: PMID:20844119 (Latvanlehto et al., 2010) describe post- and presynaptic defects in Col13a1(-/-) mice and suggest that collagen XIII plays an autocrine role in postsynaptic maturation of the NMJ.
Created: 2 Feb 2017, 11:59 a.m.
In 3 patients from 2 unrelated families with congenital myasthenic syndrome-19 (OMIM:616720), Logan et al. (2015, (PMID:26626625) identified 2 different homozygous truncating mutations in COL13A1.
Created: 2 Feb 2017, 11:53 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.
Created: 2 Feb 2017, 11:43 a.m.

David Beeson (Oxford University)

Green List (high evidence)

Covered by the OXford Congenital Myasthenia Service
Created: 26 Jan 2017, 12:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenic syndrome type 19

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome type 19
  • Myasthenic syndrome, congenital, 19, 616720
OMIM
120350
Clinvar variants
Variants in COL13A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: COL13A1 were set to PMID: 26626625

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to COL13A1.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to COL13A1. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

7 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

2 Feb 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

2 Feb 2017, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for COL13A1 was changed to BIALLELIC, autosomal or pseudoautosomal

2 Feb 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for COL13A1 were set to Congenital myasthenic syndrome type 19; Myasthenic syndrome, congenital, 19, 616720

26 Jan 2017, Gel status: 0

Added New Source

David Beeson (Oxford University)

COL13A1 was added to Congenital myaestheniapanel. Sources: Literature,Eligibility statement prior genetic testing

26 Jan 2017, Gel status: 0

Created

David Beeson (Oxford University)

COL13A1 was created by [email protected]