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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. COL1A2
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GMS Musculoskeletal specialist test group Skeletal dysplasia

Gene: COL1A2

Green List (high evidence)
COL1A2 (collagen type I alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000164692
EnsemblGeneIds (GRCh37): ENSG00000164692
OMIM: 120160, Gene2Phenotype
COL1A2 is in 8 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

OI and decreasing bone density gp of SD. OI and EDS type 2 - AD. EDS cardiac type - AR.Cardiac valvular type doesn't really have SD, so red? Green for AD phenotypes.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal OR MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted (if exclude 255320)

Phenotypes
Ehlers-Danlos syndrome, cardiac valvular form 225320; Ehlers-Danlos syndrome, type VIIB 130060; Osteogenesis imperfecta, type II 166210; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type IV 166220

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal OR MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted (if exclude 255320)
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ehlers-Danlos syndrome, cardiac valvular form 225320
  • Ehlers-Danlos syndrome, type VIIB 130060
  • Osteogenesis imperfecta, type II 166210
  • Osteogenesis imperfecta, type III 259420
  • Osteogenesis imperfecta, type IV 166220
OMIM
120160
Clinvar variants
Variants in COL1A2
Penetrance
None
Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: COL1A2 was added gene: COL1A2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal OR MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted (if exclude 255320) Phenotypes for gene: COL1A2 were set to Ehlers-Danlos syndrome, cardiac valvular form 225320; Ehlers-Danlos syndrome, type VIIB 130060; Osteogenesis imperfecta, type II 166210; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type IV 166220