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Thoracic aortic aneurysm or dissection (GMS) v3.19 COL1A1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: COL1A1.
Tag Q2_24_expert_review was removed from gene: COL1A1.
Tag Q2_24_NHS_review was removed from gene: COL1A1.
Thoracic aortic aneurysm or dissection (GMS) v3.19 COL1A1 Achchuthan Shanmugasundram reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection (GMS) v3.18 COL1A1 Achchuthan Shanmugasundram Source NHS GMS was added to COL1A1.
Source Expert Review Green was added to COL1A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection (GMS) v3.14 COL1A1 Arina Puzriakova changed review comment from: Comment on list classification: This gene was reassessed in light of the Green review by Neeti Ghali (NWTRGS). The evidence suggests that vascular complications are observed in a subset of cases. Colman et al. 2022 (PMID: 35587586) reviewed previously reported cases and show that 10/35 individuals presented with vascular phenotypes (4 artery dissection, 3 aneurysms (1 requiring embolisation), 2 aortic root dilation, 1 ascending aorta dilation, 3 arterial tortuosity).

In cases where vascular abnormalities are present, this panel may serve as an important diagnostic pathway, as highlighted by Neeti Ghali.

Upgrading from Red to Amber; however, due to conflicting expert reviews, this gene will be flagged for further GMS specialist assessment during the next iteration of GMS panel updates to determine if it should be made Green.; to: Comment on list classification: This gene was reassessed in light of the Green review by Neeti Ghali (NWTRGS). The evidence suggests that vascular complications can be observed in a subset of cases. Colman et al. 2022 (PMID: 35587586) reviewed previously reported cases and showed that 10/35 individuals presented with vascular phenotypes (4 artery dissection, 3 aneurysms (1 requiring embolisation), 2 aortic root dilation, 1 ascending aorta dilation, 3 arterial tortuosity).

In cases where vascular abnormalities are present, this panel may serve as an important diagnostic pathway, as highlighted by Neeti Ghali.

Upgrading from Red to Amber; however, due to conflicting expert reviews, this gene will be flagged for further GMS specialist assessment during the next iteration of GMS panel updates to determine if it should be made Green.
Thoracic aortic aneurysm or dissection (GMS) v3.14 COL1A1 Arina Puzriakova Tag Q2_24_expert_review tag was added to gene: COL1A1.
Thoracic aortic aneurysm or dissection (GMS) v3.14 COL1A1 Arina Puzriakova Classified gene: COL1A1 as Amber List (moderate evidence)
Thoracic aortic aneurysm or dissection (GMS) v3.14 COL1A1 Arina Puzriakova Added comment: Comment on list classification: This gene was reassessed in light of the Green review by Neeti Ghali (NWTRGS). The evidence suggests that vascular complications are observed in a subset of cases. Colman et al. 2022 (PMID: 35587586) reviewed previously reported cases and show that 10/35 individuals presented with vascular phenotypes (4 artery dissection, 3 aneurysms (1 requiring embolisation), 2 aortic root dilation, 1 ascending aorta dilation, 3 arterial tortuosity).

In cases where vascular abnormalities are present, this panel may serve as an important diagnostic pathway, as highlighted by Neeti Ghali.

Upgrading from Red to Amber; however, due to conflicting expert reviews, this gene will be flagged for further GMS specialist assessment during the next iteration of GMS panel updates to determine if it should be made Green.
Thoracic aortic aneurysm or dissection (GMS) v3.14 COL1A1 Arina Puzriakova Gene: col1a1 has been classified as Amber List (Moderate Evidence).
Thoracic aortic aneurysm or dissection (GMS) v3.13 COL1A1 Arina Puzriakova Phenotypes for gene: COL1A1 were changed from Ehlers-Danlos syndrome, classic, 130000; Ehlers-Danlos syndrome, type VIIA, 130060 to Ehlers-Danlos syndrome, arthrochalasia type, 1, OMIM:130060
Thoracic aortic aneurysm or dissection (GMS) v3.12 COL1A1 Arina Puzriakova Publications for gene: COL1A1 were set to
Thoracic aortic aneurysm or dissection (GMS) v3.11 COL1A1 Arina Puzriakova Tag Q2_24_promote_green tag was added to gene: COL1A1.
Tag Q2_24_NHS_review tag was added to gene: COL1A1.
Thoracic aortic aneurysm or dissection (GMS) v3.11 COL1A1 Neeti Ghali reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35587586; Phenotypes: skin (soft, doughy, hyperextensible, fragile) with atrophic scarring, musculoskeletal (joint hypermobility, dislocations, spinal and chest wall deformities), vascular complications (see below); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection (GMS) v0.35 COL1A1 Ivone Leong reviewed gene: COL1A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v0.32 COL1A1 James Eden reviewed gene: COL1A1: Rating: RED; Mode of pathogenicity: None; Publications: 14630726; Phenotypes: Caffey disease 114000, Ehlers-Danlos syndrome, arthrochalasia type, 1 130060, Osteogenesis imperfecta, types I-IV; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm or dissection (GMS) v0.9 COL1A1 Ellen McDonagh Marked gene: COL1A1 as ready
Thoracic aortic aneurysm or dissection (GMS) v0.9 COL1A1 Ellen McDonagh Gene: col1a1 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm or dissection (GMS) v0.9 COL1A1 Ellen McDonagh Classified gene: COL1A1 as Red List (low evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.9 COL1A1 Ellen McDonagh Added comment: Comment on list classification: Demoted from Amber to Red, after confirmation with the GMS Cardiology specialist disease group in a meeting in July 2019 that EDS genes should not be included, except vascular EDS (the COL3A1 should remain Green).
Thoracic aortic aneurysm or dissection (GMS) v0.9 COL1A1 Ellen McDonagh Gene: col1a1 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm or dissection (GMS) v0.5 COL1A1 Alison Callaway changed review comment from: Associated with EDS and OI, which overlap with TAAD.
Present on Wessex aortopathy panel, pathogenic variants have been detected in patients referred with OI, but no pathogenic or likely pathogenic variants have been detected in patients referred specifically for aortopathy (without other COL1A1 specific syndromic features e.g. OI).; to: Present on Wessex aortopathy panel, pathogenic variants have been detected in patients referred with OI, but no pathogenic or likely pathogenic variants have been detected in patients referred specifically for aortopathy (without other COL1A1 specific syndromic features e.g. OI). Associated with EDS (arthrochalasia type) OMIM #130060 and OI (OMIM #166200,166210, 259420, 166220).
Thoracic aortic aneurysm or dissection (GMS) v0.5 COL1A1 Alison Callaway reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.0 COL1A1 Ellen McDonagh gene: COL1A1 was added
gene: COL1A1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL1A1 were set to Ehlers-Danlos syndrome, classic, 130000; Ehlers-Danlos syndrome, type VIIA, 130060