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Mendeliome

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

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

Details

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

History Filter Activity

5 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COL27A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

3 May 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

3 May 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: COL27A1 were changed from to Steel syndrome, MIM #615155

3 May 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: COL27A1 were set to

3 May 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: COL27A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL27A1 was added gene: COL27A1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL27A1 was set to Unknown