Rare syndromic craniosynostosis or isolated multisuture synostosis
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

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A de novo loss of function variant (c.2852+5G>A) was identified in an individual with craniosynostosis and a hearing impairment from the UK 100k genomes project (PMID:34429528)
Sources: Literature
Created: 20 Jul 2023, 10:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 20 Jul 2023, 10:45 a.m.

Panel version: 4.114

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

120280

Clinvar variants

Variants in COL11A1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

20 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: COL11A1 was added gene: COL11A1 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL11A1 were set to 34429528; 36980886 Phenotypes for gene: COL11A1 were set to craniosynostosis, MONDO:0015469 Review for gene: COL11A1 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: COL11A1