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  3. COL13A1
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Congenital Myasthenia

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

16 patients affected from 11 families including 7 consanguineous. (Variants include missense, nonsense, deletions, splice) . Reviewed for mutational and clinical spectrum. (Rodriguez, CPM. et al. (2019); PMID: 31081514) Knockout mice show the major muscle findings of human disorder. (Härönen, H. et al., (2017); PMID: 28369367 and Latvanlehto, A. et al. (2010); PMID: 20844119 ).
Created: 23 Apr 2020, 10:45 a.m. | Last Modified: 23 Apr 2020, 10:45 a.m.
Panel Version: 0.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 19 (OMIM #616720)

Publications

Created: 23 Apr 2020, 10:45 a.m.
Last Modified: 23 Apr 2020, 10:45 a.m.
Panel version: 0.20

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 19, 616720
Tags
treatable
OMIM
120350
Clinvar variants
Variants in COL13A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: COL13A1.

23 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col13a1 has been classified as Green List (High Evidence).

23 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COL13A1 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: COL13A1 was added gene: COL13A1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL13A1 were set to Myasthenic syndrome, congenital, 19, 616720