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  3. COL27A1
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Skeletal dysplasia

Gene: COL27A1

Green List (high evidence)
COL27A1 (collagen type XXVII alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000196739
EnsemblGeneIds (GRCh37): ENSG00000196739
OMIM: 608461, Gene2Phenotype
COL27A1 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Steel syndrome MIM #615155

Created: 5 May 2022, 7:54 a.m.
Last Modified: 5 May 2022, 7:54 a.m.
Panel version: Imported from Mendeliome panel version 0.13801

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Steel syndrome is characterized by characteristic facies, congenital dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention.

>3 families with biallelic variants reported.
Created: 3 May 2022, 11:49 p.m. | Last Modified: 3 May 2022, 11:49 p.m.
Panel Version: 0.13656

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Steel syndrome MIM #615155

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 3 May 2022, 11:49 p.m.
Last Modified: 3 May 2022, 11:49 p.m.
Panel version: Imported from Mendeliome panel version 0.13658

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • OMIM #615155 Steel Syndrome
OMIM
608461
Clinvar variants
Variants in COL27A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: col27a1 has been classified as Green List (High Evidence).

7 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: col27a1 has been classified as Green List (High Evidence).

7 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: col27a1 has been classified as Red List (Low Evidence).

7 Sep 2020, Gel status: 1

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

Alison Yeung (Victorian Clinical Genetics Services)

gene: COL27A1 was added gene: COL27A1 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL27A1 were set to 24986830; 28276056; 28322503 Phenotypes for gene: COL27A1 were set to OMIM #615155 Steel Syndrome