COL3A1

collagen type III alpha 1 chain
OMIM: 120180, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green COL3A1 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • ClinGen
  • Other
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection

Green COL3A1 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.51
Latest signed off version: v2.2 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Green
  • UKGTN
Phenotypes
  • Ehlers-Danlos syndrome, vascular type, OMIM:130050

Green COL3A1 in Familial cerebral small vessel disease

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • stroke
  • ischemic stroke
  • haemorrhagic stroke
  • dissection
  • vertebral artery dissection
  • Ehlers-Danlos syndrome, type IV 130050

Green COL3A1 in Pneumothorax - familial

Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 2.37
Latest signed off version: v2.17 (3 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Ehlers-Danlos syndrome, vascular type, OMIM:130050

Amber COL3A1 in Rare genetic inflammatory skin disorders


Version 1.38
Latest signed off version: v1.6 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber

Green COL3A1 in Thoracic aortic aneurysm and dissection


Version 1.7
Latest signed off version: v1.2 (19 Feb 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • North West GLH
  • South West GLH
  • London South GLH
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Ehlers-Danlos syndrome, type IV, 130050
  • Loeys-Dietz syndrome
  • Ehlers-Danlos syndrome, vascular type (130050)

Green COL3A1 in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.112

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Loeys-Dietz syndrome
  • Ehlers-Danlos syndrome, type IV, 130050
  • Ehlers-Danlos syndrome, vascular type (130050)

Amber COL3A1 in Bleeding and platelet disorders


Version 1.26
Latest signed off version: v1.2 (3 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Ehlers-Danlos syndrome, vascular type, 130050

Green COL3A1 in Ehlers Danlos syndromes

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 2.57
Latest signed off version: v2.3 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Ehlers-Danlos syndrome, vascular type, OMIM:130050

Green COL3A1 in Fetal anomalies


Version 1.648
Latest signed off version: v1.92 (21 Aug 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • HP:0002126
  • HP:0001883
  • HP:0006496

Green COL3A1 in Severe Paediatric Disorders


Version 1.76

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Polymicrogyria with or without vascular-type EDS, 618343
  • Ehlers-Danlos syndrome, vascular type, 130050