Groopman et al 2019 - Genes with diagnostic variants
Gene: COL11A1

COL11A1 (collagen type XI alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000060718
EnsemblGeneIds (GRCh37): ENSG00000060718
OMIM: 120280, Gene2Phenotype
COL11A1 is in 16 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: COL11A1; Inheritance: AD; Clinical diagnosis: Congenital or cystic renal disease; Genetic diagnosis: Stickler syndrome type II; OMIM phenotype MIM No.: 604841; Number of cases: 1
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.

Panel Version: 0.4

Created: 2 Jul 2019, 9:46 p.m.
Last Modified: 2 Jul 2019, 9:46 p.m.
Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Expert review red
Literature

Phenotypes

Stickler syndrome type II
Congenital or cystic renal disease
MIM 604841

OMIM

120280

Clinvar variants

Variants in COL11A1

Penetrance

None

Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to COL11A1.

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: COL11A1 was added gene: COL11A1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL11A1 were set to Stickler syndrome type II; Congenital or cystic renal disease; MIM 604841

Groopman et al 2019 - Genes with diagnostic variants Gene: COL11A1