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Fetal anomalies

Gene: COL13A1

Amber List (moderate evidence)

COL13A1 (collagen type XIII alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000197467
EnsemblGeneIds (GRCh37): ENSG00000197467
OMIM: 120350, Gene2Phenotype
COL13A1 is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Congenital Myasthenic Syndrome Type 19
Created: 11 Dec 2018, 9:04 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Congenital Myasthenic Syndrome Type 19
OMIM
120350
Clinvar variants
Variants in COL13A1
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: COL13A1 was added gene: COL13A1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL13A1 were set to Congenital Myasthenic Syndrome Type 19