COL27A1

collagen type XXVII alpha 1 chain
OMIM: 608461, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green COL27A1 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Steel syndrome, MIM #615155

Green COL27A1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.305

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • OMIM #615155 Steel Syndrome

Green COL27A1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Steel Syndrome

Green COL27A1 in Fetal anomalies


Version 1.314

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Steel syndrome, OMIM #615155

Green COL27A1 in Prepair 1000+


Level 2: Screening
Version 1.1586

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Steel Syndrome, MIM#615155

Green COL27A1 in Prepair 500+


Level 2: Screening
Version 1.5

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Steel Syndrome