Skeletal dysplasia
Gene: COL1A1
neonatal osteosclerotic dysplasias gp of SD, OI and decreasing bone density gp of SD. Many missense/splice variants reported in OI, primarily affecting Gly residues, type 1 primarily haploinsufficiency. EDS - missense variants in first 90 residues of helix. Caffey - R836C in all cases. Green for all phenotypes.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Caffey disease 114000; Ehlers-Danlos syndrome, classic 130000; Ehlers-Danlos syndrome, type VIIA 130060; Osteogenesis imperfecta, type I 166200; Osteogenesis imperfecta, type II 166210; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type IV 166220
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: COL1A1; Initial rating suggestion: Green or OI/EDSCreated: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:28 a.m.
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.Created: 13 Jul 2016, 8:14 a.m.
Tier 1Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Caffey disease 114000; Ehlers-Danlos syndrome, classic 130000; Ehlers-Danlos syndrome, type VIIA 130060; Osteogenesis imperfecta, type I 166200; Osteogenesis imperfecta, type II 166210; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type IV 166220
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Osteogenesis imperfecta, type I 166200; Caffey disease 114000; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type II 166210; Ehlers-Danlos syndrome, type VIIA 130060; Ehlers-Danlos syndrome, classic 130000; Osteogenesis imperfecta, type IV 166220 for gene: COL1A1
Source NHS GMS was added to COL1A1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for COL1A1 were set to Caffey disease 114000; Ehlers-Danlos syndrome, classic 130000; Ehlers-Danlos syndrome, type VIIA 130060; Osteogenesis imperfecta, type I 166200; Osteogenesis imperfecta, type II 166210; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type IV 166220
COL1A1 was added to Unexplained skeletal dysplasiapanel. Source: Expert COL1A1 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen COL1A1 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services COL1A1 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory COL1A1 was added to Unexplained skeletal dysplasiapanel. Source: UKGTN COL1A1 was added to Unexplained skeletal dysplasiapanel. Source: Eligibility statement prior genetic testing COL1A1 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
COL1A1 was added to Unexplained skeletal dysplasiapanel. Sources:
COL1A1 was created by sleigh