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  2. Skeletal Dysplasia_Fetal
  3. COL11A1
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Skeletal Dysplasia_Fetal

Gene: COL11A1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, some of the more severe phenotypes have antenatal manifestations.
Created: 19 Nov 2021, 2:30 a.m. | Last Modified: 19 Nov 2021, 2:30 a.m.
Panel Version: 0.565

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Fibrochondrogenesis 1, MIM# 228520; Marshall syndrome, MIM# 154780

Created: 19 Nov 2021, 2:30 a.m.
Last Modified: 19 Nov 2021, 2:30 a.m.
Panel version: Imported from Fetal anomalies panel version 0.565

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Fibrochondrogenesis 1, MIM# 228520
  • Marshall syndrome, MIM# 154780
OMIM
120280
Clinvar variants
Variants in COL11A1
Penetrance
None
Panels with this gene

History Filter Activity

10 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col11a1 has been classified as Green List (High Evidence).

10 Nov 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COL11A1 were changed from to Fibrochondrogenesis 1, MIM# 228520; Marshall syndrome, MIM# 154780

10 Nov 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COL11A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL11A1 was added gene: COL11A1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL11A1 was set to Unknown