Activity
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497 actions
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| Thoracic aortic aneurysm or dissection (GMS) v4.5 | Eleanor Williams Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v4.4 | SMAD6 |
Eleanor Williams Tag Q2_25_ demote_red was removed from gene: SMAD6. Tag Q2_25_expert_review was removed from gene: SMAD6. Tag Q2_25_ NHS_review was removed from gene: SMAD6. |
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| Thoracic aortic aneurysm or dissection (GMS) v4.4 | SMAD6 | Eleanor Williams reviewed gene: SMAD6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v4.3 | SMAD6 |
Eleanor Williams Source Expert Review Red was added to SMAD6. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v4.2 | COL3A1 | Arina Puzriakova Phenotypes for gene: COL3A1 were changed from Ehlers-Danlos syndrome, type IV, 130050; Loeys-Dietz syndrome; Ehlers-Danlos syndrome, vascular type (130050) to Ehlers-Danlos syndrome, vascular type, OMIM:130050; Polymicrogyria with or without vascular-type EDS, OMIM:618343 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v4.1 | Achchuthan Shanmugasundram Panel version 4.0 has been signed off on 2025-04-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v4.0 | Achchuthan Shanmugasundram promoted panel to version 4.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.20 | SMAD6 | Sarah Leigh Tag Q2_25_expert_review tag was added to gene: SMAD6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.20 | SMAD6 | Sarah Leigh reviewed gene: SMAD6: Rating: RED; Mode of pathogenicity: None; Publications: 39069920, 40133303; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.20 | SMAD6 |
Sarah Leigh Tag Q2_25_ demote_red tag was added to gene: SMAD6. Tag Q2_25_ NHS_review tag was added to gene: SMAD6. |
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| Thoracic aortic aneurysm or dissection (GMS) v3.20 | SMAD6 | Sarah Leigh Publications for gene: SMAD6 were set to 30796334; 28659821; 30963242 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.19 | SMAD6 | Ian Berry reviewed gene: SMAD6: Rating: RED; Mode of pathogenicity: None; Publications: PMID:22275001, 30796334, 28659821, 36414630); Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.19 | PMEPA1 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PMEPA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.19 | SECISBP2 |
Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: SECISBP2. Tag Q2_24_NHS_review was removed from gene: SECISBP2. |
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| Thoracic aortic aneurysm or dissection (GMS) v3.19 | PMEPA1 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: PMEPA1. Tag Q4_23_NHS_review was removed from gene: PMEPA1. |
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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. |
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| Thoracic aortic aneurysm or dissection (GMS) v3.19 | SECISBP2 | Achchuthan Shanmugasundram commented on gene: SECISBP2: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.19 | PMEPA1 | Achchuthan Shanmugasundram reviewed gene: PMEPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SECISBP2 |
Achchuthan Shanmugasundram Source NHS GMS was added to SECISBP2. Source Expert Review Green was added to SECISBP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v3.18 | PMEPA1 |
Achchuthan Shanmugasundram Source NHS GMS was added to PMEPA1. Source Expert Review Green was added to PMEPA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| 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) |
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| Thoracic aortic aneurysm or dissection (GMS) v3.17 | THBS2 | Arina Puzriakova Phenotypes for gene: THBS2 were changed from aortic dilatation and rupture; prolonged bleeding time; atrophic scarring, joint hypermobility and frequent joint dislocations to ?Ehlers-Danlos syndrome, classic-like, 3, OMIM:620865 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.16 | THBS2 | Arina Puzriakova Publications for gene: THBS2 were set to https://doi.org/10.1038/s41431-024-01559-1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.15 | THBS2 | Arina Puzriakova Classified gene: THBS2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.15 | THBS2 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Neeti Ghali (NWTRGS). Rating Red as only a single family has been reported to date (see below) but this is a good candidate for future promotion if additional cases are identified. - PMID: 38433265 (2024) reports on a three-generation family of Ashkenazi Jewish ancestry with a previously uncharacterised connective tissue disorder with features of EDS with prominent vascular involvement, caused by a heterozygous pathogenic variant (c.2686T>C, p.Cys896Arg) in THBS2. |
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| Thoracic aortic aneurysm or dissection (GMS) v3.15 | THBS2 | Arina Puzriakova Gene: thbs2 has been classified as Red List (Low 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. |
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| 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. |
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| 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. |
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| 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) v3.11 | THBS2 |
Neeti Ghali gene: THBS2 was added gene: THBS2 was added to Thoracic aortic aneurysm or dissection (GMS). Sources: Literature Mode of inheritance for gene: THBS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: THBS2 were set to https://doi.org/10.1038/s41431-024-01559-1 Phenotypes for gene: THBS2 were set to aortic dilatation and rupture; prolonged bleeding time; atrophic scarring, joint hypermobility and frequent joint dislocations Penetrance for gene: THBS2 were set to unknown Mode of pathogenicity for gene: THBS2 was set to Other Review for gene: THBS2 was set to RED Added comment: For R125, I would consider this to be 'red' (ie low evidence at present) but with a view to observing for other publications. There is only one recently (March 2024) published family but mouse work was also described in this publication. The phenotype is described as a novel form of EDS with vascular features as well as musculoskeletal (joint hypermobility, tendon rupture and joint dislocations), haematological (prolonged bleeding) and dermatological features (atrophic scarring). One patient had cerebral aneurysms and died from an abdominal aorta dissection at the age of 70 (but therefore was not genetically confirmed) and one displayed an enlarged ascending aortic arch at 50 (4.2cm). Lifestyle factors were not discussed and the two younger relatives (30s) did not have aortopathy. Electron microscopy revealed abnormally disorganised collagen fibres. The variant described is a missense (Cys to Arg in highly conserved region) and a CRISPR/Cas9 knock-in mouse demonstrated phenotypic traits correlating with those observed in human subjects (but not aortopathy). Protein has been found to be mainly expressed in large blood vessels such as aorta. Sources: Literature |
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| Thoracic aortic aneurysm or dissection (GMS) v3.11 | SECISBP2 | Achchuthan Shanmugasundram Tag Q2_24_NHS_review tag was added to gene: SECISBP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.11 | SECISBP2 | Achchuthan Shanmugasundram Classified gene: SECISBP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.11 | SECISBP2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated cases and animal models) for the promotion of this gene to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.11 | SECISBP2 | Achchuthan Shanmugasundram Gene: secisbp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.10 | SECISBP2 | Achchuthan Shanmugasundram Phenotypes for gene: SECISBP2 were changed from Growth retardation; sensorineural hearing loss; muscular dystrophy; thoracic aortic aneurysm; raised circulating thyroxine and low plasma selenium to Thyroid hormone metabolism, abnormal, 1, OMIM:609698; thoracic aortic aneurysm | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.9 | SECISBP2 | Achchuthan Shanmugasundram Publications for gene: SECISBP2 were set to PMID 38042913; PMID 21084748 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.8 | SECISBP2 | Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: SECISBP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.8 | SECISBP2 | Achchuthan Shanmugasundram reviewed gene: SECISBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38042913; Phenotypes: Thyroid hormone metabolism, abnormal, 1, OMIM:609698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.8 | SECISBP2 |
krishna chatterjee gene: SECISBP2 was added gene: SECISBP2 was added to Thoracic aortic aneurysm or dissection (GMS). Sources: Literature Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SECISBP2 were set to PMID 38042913; PMID 21084748 Phenotypes for gene: SECISBP2 were set to Growth retardation; sensorineural hearing loss; muscular dystrophy; thoracic aortic aneurysm; raised circulating thyroxine and low plasma selenium Penetrance for gene: SECISBP2 were set to Complete Review for gene: SECISBP2 was set to GREEN Added comment: Biallelic defects in this gene cause a multi system disorder with deficiency of most human selenoproteins. Phenotypes listed here are associated with a biochemical signature of elevated circulating T4 (thyroxine) and low plasma selenium. Since some pathogenic variants can be in non-coding regions and cryptic, we suggest a high index of suspicion even in cases of aortic aneurysm with an apparently monoallelic SECISBP2 defect. In such cases, we advocate measuring circulating T4 and selenium; if these biomarker levels are abnormal a cryptic mutation on the other allele should be sought. Sources: Literature |
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| Thoracic aortic aneurysm or dissection (GMS) v3.8 | MYLK | Arina Puzriakova Phenotypes for gene: MYLK were changed from Aortic aneurysm, familial thoracic 7 (613780); Aortic aneurysm, familial thoracic 7, 613780 to Aortic aneurysm, familial thoracic 7, OMIM:613780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.7 | PMEPA1 | Ivone Leong Phenotypes for gene: PMEPA1 were changed from thoracic aortic aneurysm; tall stature; dolichocephaly; abnormal axial skeletal morphology; pes planus to thoracic aortic aneurysm, MONDO:0005396; tall stature; dolichocephaly; abnormal axial skeletal morphology; pes planus; Loeys-Dietz syndrome, MONDO:0018954 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.6 | PMEPA1 |
Ivone Leong Tag Q4_23_promote_green tag was added to gene: PMEPA1. Tag Q4_23_NHS_review tag was added to gene: PMEPA1. |
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| Thoracic aortic aneurysm or dissection (GMS) v3.6 | PMEPA1 | Ivone Leong Classified gene: PMEPA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.6 | PMEPA1 |
Ivone Leong Added comment: Comment on list classification: New gene submitted by Andrew Mumford (University of Bristol). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 36928819 describes 8 families with truncating variants affecting the same polycytosine area in this gene. In the 100KGP cohort, three families of European ancestry with FTAAD have the same variant. This same variant was identified independently in 3 families of Japanese ancestry in a separate Japanese patient group. A second variant in the same polycycstine stretch was identified in a different FTAAD case enrolled in the 100KGP pilot programme. A third variant (5 bp deletion in the same stretch which caused a frameshift mutation) was identified in a family in Belgium. "All pedigrees exhibited dominant inheritance of aortic aneurysm disease with incomplete penetrance and skeletal features including pectus deformity, scoliosis and arachnodactyly with complete penetrance". The authors found four HPO terms related to the musculoskeletal system were significantly enriched, which suggested the phenotypic characteristics of the syndromic aortopathy Loeys–Dietz syndrome. Based on the above evidence this gene has been given an Amber gene rating and should be promoted to Green at the next GMS review. |
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| Thoracic aortic aneurysm or dissection (GMS) v3.6 | PMEPA1 | Ivone Leong Gene: pmepa1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.5 | PMEPA1 | Ivone Leong Publications for gene: PMEPA1 were set to PMID:36928819 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.1 | PMEPA1 |
Andrew Mumford gene: PMEPA1 was added gene: PMEPA1 was added to Thoracic aortic aneurysm or dissection (GMS). Sources: Research Mode of inheritance for gene: PMEPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PMEPA1 were set to PMID:36928819 Phenotypes for gene: PMEPA1 were set to thoracic aortic aneurysm; tall stature; dolichocephaly; abnormal axial skeletal morphology; pes planus Penetrance for gene: PMEPA1 were set to Complete Review for gene: PMEPA1 was set to GREEN Added comment: Association between chain truncation variants in cytoplasmic domain of PMEPA1 and 'Loeys-Dietz' phenotype was established in an association analysis in 100KGP RD main programme, but reproduced in multiple independent pedigrees reported in PMID:36928819. Gene encodes regulator of TGFBeta signalling, a pathway implicated in other familial thoracic aneurysm disorders. Sources: Research |
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| Thoracic aortic aneurysm or dissection (GMS) v3.1 | Catherine Snow Panel version 3.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.0 | Catherine Snow promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v2.4 |
Arina Puzriakova Panel name changed from Thoracic aortic aneurysm and dissection to Thoracic aortic aneurysm or dissection (GMS) List of related panels changed from R125 to Thoracic aortic aneurysm and dissection; R125 |
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| Thoracic aortic aneurysm or dissection (GMS) v2.3 | THSD4 | Arina Puzriakova Tag Q2_21_rating was removed from gene: THSD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v2.3 | LTBP3 | Arina Puzriakova Tag Q1_22_rating was removed from gene: LTBP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v2.3 | ARIH1 | Arina Puzriakova Tag Q3_21_rating was removed from gene: ARIH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v2.3 | IPO8 | Arina Puzriakova Tag Q2_21_rating was removed from gene: IPO8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v2.3 | ASPH |
Arina Puzriakova Tag Q3_22_rating was removed from gene: ASPH. Tag Q3_22_MOI was removed from gene: ASPH. Tag Q3_22_NHS_review was removed from gene: ASPH. |
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| Thoracic aortic aneurysm or dissection (GMS) v2.3 | THSD4 | Arina Puzriakova reviewed gene: THSD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v2.3 | LTBP3 | Arina Puzriakova reviewed gene: LTBP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v2.3 | ARIH1 | Arina Puzriakova reviewed gene: ARIH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v2.3 | IPO8 | Arina Puzriakova reviewed gene: IPO8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v2.3 | ASPH | Arina Puzriakova reviewed gene: ASPH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v2.2 | IPO8 |
Arina Puzriakova Source Expert Review Green was added to IPO8. Source NHS GMS was added to IPO8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v2.2 | ASPH |
Arina Puzriakova Source Expert Review Green was added to ASPH. Source NHS GMS was added to ASPH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v2.1 | Achchuthan Shanmugasundram Panel version 2.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v2.0 | Achchuthan Shanmugasundram promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.29 | FBLN5 | Arina Puzriakova Publications for gene: FBLN5 were set to 12189163; 27089918 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.28 | FBLN5 | Arina Puzriakova Phenotypes for gene: FBLN5 were changed from to ?Cutis laxa, autosomal dominant 2, OMIM:614434; Cutis laxa, autosomal recessive, type IA, OMIM:219100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.27 | COL1A2 | Eleanor Williams Added comment: Comment on mode of inheritance: As this is a red gene the mode of inheritance has been left as it is, Both mono and biallelic. However, if promoted to green the evidence for biallelic cases should be reviewed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.27 | COL1A2 | Eleanor Williams Mode of inheritance for gene: COL1A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.26 | ASPH | Eleanor Williams Classified gene: ASPH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.26 | ASPH | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber but with a recommendation for a green rating following GMS review. There are sufficient cases with a cardiac phenotype relevant to this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.26 | ASPH | Eleanor Williams Gene: asph has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.25 | ASPH |
Eleanor Williams Tag Q3_22_rating tag was added to gene: ASPH. Tag Q3_22_MOI tag was added to gene: ASPH. Tag Q3_22_NHS_review tag was added to gene: ASPH. |
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| Thoracic aortic aneurysm or dissection (GMS) v1.25 | ASPH | Eleanor Williams Phenotypes for gene: ASPH were changed from ocular features; anterior segment abnormalities; distinctive facial appearance; aortic root dilatation to Traboulsi syndrome, OMIM:601552; facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome, MONDO:0011106 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.24 | ASPH | Eleanor Williams Publications for gene: ASPH were set to PMID: 35918038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.23 | ASPH | Eleanor Williams commented on gene: ASPH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.23 | ASPH |
Simon Thomas changed review comment from: Biallelic variants in ASPH are associated with Traboulsi syndrome Jones et al (PMID: 35918038) report seven further individuals from six apparently unrelated families identified through genetics clinics with confirmed molecular diagnoses and features consistent with Traboulsi syndrome. These patients exhibited additional cardiac, musculoskeletal and haematological features thus expanding the phenotypic spectrum of Traboulsi syndrome and demonstrating considerable overlap with Marfan syndrome. Specifically, five individuals had aortic root dilatation, with childhood onset in some, and one undergoing aortic root repair aged 47 years for severe aortic regurgitation and aortic root dilatation. Therefore ASPH should be considered for inclusion in the R125 TAAD/Marfan panel. Sources: Literature; to: Biallelic variants in ASPH are associated with Traboulsi syndrome Jones et al (PMID: 35918038) report seven further individuals from six apparently unrelated families identified through genetics clinics with confirmed molecular diagnoses and features consistent with Traboulsi syndrome. These patients exhibited additional cardiac, musculoskeletal and haematological features thus expanding the phenotypic spectrum of Traboulsi syndrome and demonstrating considerable overlap with Marfan syndrome. Specifically, five individuals had aortic root dilatation, with childhood onset in some, and one undergoing aortic root repair aged 47 years for severe aortic regurgitation and aortic root dilatation. Therefore ASPH should be considered for inclusion in the R125 TAAD/Marfan panel. Sources: Literature |
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| Thoracic aortic aneurysm or dissection (GMS) v1.23 | ASPH |
Simon Thomas gene: ASPH was added gene: ASPH was added to Thoracic aortic aneurysm and dissection. Sources: Literature Mode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPH were set to PMID: 35918038 Phenotypes for gene: ASPH were set to ocular features; anterior segment abnormalities; distinctive facial appearance; aortic root dilatation Penetrance for gene: ASPH were set to unknown Added comment: Biallelic variants in ASPH are associated with Traboulsi syndrome Jones et al (PMID: 35918038) report seven further individuals from six apparently unrelated families identified through genetics clinics with confirmed molecular diagnoses and features consistent with Traboulsi syndrome. These patients exhibited additional cardiac, musculoskeletal and haematological features thus expanding the phenotypic spectrum of Traboulsi syndrome and demonstrating considerable overlap with Marfan syndrome. Specifically, five individuals had aortic root dilatation, with childhood onset in some, and one undergoing aortic root repair aged 47 years for severe aortic regurgitation and aortic root dilatation. Therefore ASPH should be considered for inclusion in the R125 TAAD/Marfan panel. Sources: Literature |
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| Thoracic aortic aneurysm or dissection (GMS) v1.23 | FOXE3 | Ivone Leong Tag for-review was removed from gene: FOXE3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.23 | FOXE3 | Ivone Leong commented on gene: FOXE3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.22 | FOXE3 |
Ivone Leong Source Expert Review Amber was added to FOXE3. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v1.21 | LTBP3 | Eleanor Williams Added comment: Comment on mode of inheritance: Note monoallelic variants in this gene have also been reported in association with Geleophysic dysplasia 3 but a cardiac phenotype is not noted in these cases to date. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.21 | LTBP3 | Eleanor Williams Mode of inheritance for gene: LTBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.20 | LTBP3 | Eleanor Williams Tag Q1_22_rating tag was added to gene: LTBP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.20 | LTBP3 | Eleanor Williams Classified gene: LTBP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.20 | LTBP3 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber, but with a recommendation for GREEN rating following GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.20 | LTBP3 | Eleanor Williams Gene: ltbp3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.19 | LTBP3 | Eleanor Williams Phenotypes for gene: LTBP3 were changed from Short stature; dental anomalies; aortopathy; facial dysmorphism; learning disability to Short stature; dental anomalies; aortopathy; facial dysmorphism; learning disability; Dental anomalies and short stature, OMIM:601216 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.18 | LTBP3 | Eleanor Williams reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dental anomalies and short stature, OMIM:601216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.18 | LTBP3 | Tracy Lester edited their review of gene: LTBP3: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.18 | LTBP3 |
Tracy Lester gene: LTBP3 was added gene: LTBP3 was added to Thoracic aortic aneurysm and dissection. Sources: NHS GMS Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP3 were set to 25899461; 29625025 Phenotypes for gene: LTBP3 were set to Short stature; dental anomalies; aortopathy; facial dysmorphism; learning disability Penetrance for gene: LTBP3 were set to unknown Added comment: AR Short stature with dental anomalies (MIM601216) is an autosomal recessive disorder that can present with variable valvular and/or vascular defects, including mitral valve prolapse, aortic root dilation, and aortic as well as other arterial aneurysms. Pathogenic variant was alsmost missed as it was not tiered - not green on this panel and gene was on skeletal panel with only monoallelic mode of inheritance. Sources: NHS GMS |
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| Thoracic aortic aneurysm or dissection (GMS) v1.18 | ARIH1 | Ivone Leong Classified gene: ARIH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.18 | ARIH1 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.18 | ARIH1 | Ivone Leong Gene: arih1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.17 | ARIH1 | Ivone Leong Tag Q3_21_rating tag was added to gene: ARIH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.17 | ARIH1 | Ivone Leong Phenotypes for gene: ARIH1 were changed from Thoracic aortic aneurysm to Thoracic aortic aneurysm, MONDO:0005396 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.16 | ARIH1 |
Zornitza Stark gene: ARIH1 was added gene: ARIH1 was added to Thoracic aortic aneurysm and dissection. Sources: Literature Mode of inheritance for gene: ARIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARIH1 were set to 29689197; 32102558 Phenotypes for gene: ARIH1 were set to Thoracic aortic aneurysm Review for gene: ARIH1 was set to GREEN Added comment: 3 unrelated families: A de novo case (R171*) with thoracic aortic aneurysm (TAA), and 2 siblings with TAA and a missense (E15Q). Another proband with cerebrovascular aneurysm (family history of TAA) and a missense variant (E44G). Supporting functional assays of the variants and a Drosophila model. Sources: Literature |
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| Thoracic aortic aneurysm or dissection (GMS) v1.16 | FOXE3 | Eleanor Williams Added comment: Comment on mode of inheritance: All cases reported in PMID: 26854927 (Kuang et al 2016) are heterozygous so the MONOALLELIC mode of inheritance is appropriate for the Thoracic aortic aneurysms and acute aortic dissection phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.16 | FOXE3 | Eleanor Williams Mode of inheritance for gene: FOXE3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.15 | SMAD3 | Eleanor Williams commented on gene: SMAD3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.15 | MED12 | Arina Puzriakova Publications for gene: MED12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.14 | MED12 | Arina Puzriakova Phenotypes for gene: MED12 were changed from Lujan-Fryns syndrome, 309520; Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders to Lujan-Fryns syndrome, OMIM:309520; Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.13 | FLNA | Arina Puzriakova Phenotypes for gene: FLNA were changed from Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders; Cardiac valvular dysplasia, X-linked 314400 to Cardiac valvular dysplasia, X-linked, OMIM:314400; Heterotopia, periventricular, 1, OMIM:300049 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.12 | COL5A1 | Ivone Leong Added comment: Comment on phenotypes: Added Fibromuscular dysplasia, multifocal, OMIM:619329 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.12 | COL5A1 | Ivone Leong Phenotypes for gene: COL5A1 were changed from Ehlers-Danlos syndrome, classic type, 130000; Ehlers-Danlos syndrome vascular type to Ehlers-Danlos syndrome, classic type, OMIM:130000; Fibromuscular dysplasia, multifocal, OMIM:619329 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.11 | IPO8 | Ivone Leong Tag Q2_21_rating tag was added to gene: IPO8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.11 | IPO8 |
Ivone Leong commented on gene: IPO8: Boaz Palterer also left a Green review on the Primary immunodeficiency panel (Version 2.434): "Ziegler et al. reported 12 individuals from 9 unrelated kindreds with bi-allelic loss-of-function variants in IPO8 presenting with a syndromic association characterized by cardio-vascular anomalies, joint hyperlaxity, and various degree of dysmorphic features and developmental delay as well as immune dysregulation. IPO8 is involved in the TGFbeta/SMAD signaling, which is a known pathway in Loeys-Dietz syndrome. Functional data in a zebrafish model. Sources: Literature Boaz Palterer (University of Florence), 24 May 2021" |
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| Thoracic aortic aneurysm or dissection (GMS) v1.11 | IPO8 | Ivone Leong Publications for gene: IPO8 were set to 34010604; 34010605 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.10 | IPO8 |
Ivone Leong changed review comment from: Comment on publications: PMID: 34010604. 12 individuals from 9 families. 11/12 dilatation of the ascending aorta, 6/12 other abnormalities in great vessels (including ascending aortic aneurysm and carotid artery tortuosity), 6/10 heart malformations, 9/12 dysmorphic features (including proptossi, micrognathia, hypertelorism, frontal bossing and abnormal palate), 12/12 skeletal abnormalities (including hyperlaxity, recurrent joint dislocations, scoliosis, pectus and arachnodactyly), 8/12 skin hyperextensibility, 11/12 umbilical hernia, 7/12 developmental delay or intellectual disability (did not mention severity), 2/12 retinal detachment, 3/12 bilateral cataract (one patient had it at age of 45), 3/3 hyperIgE and IgG, 3/4 hypoIgA, 4/5 hypereosinophilia, 5/12 intestinal inflammation and 6/12 allergic symptoms. Patients were aged between 1 year - 62 years old). PMID: 34010605. 7 individuals from 6 families. 7/7 dysmorphic features (including frontal bossing, hypertelorism, retrognathia and palate abnormalities), 7/7 skeletal findings (including arachnodactyly, joint hypermobility, scoliosis, pectus excavatum and pes planum), 7/7 developmental delay, 2/7 ID (1 mild ID and no severity for the other patient), 5/7 atrial septal defect, 4/7 ventricular septal defect, 6/7 cardiovascular abnormalities with aortic root and/orascending aortic aneurysm, 2/7 marked arterial tortuosity, 5/7 umbilical hernia, 2/7 bruise easily. Authors noted that despite patients having severe aneurysm phenotype none experienced arterial or aortic dissection and concluded that it may be because of the patients' young age (1 year - 19 years old). The study did not look at the immunological profile of the patients.; to: Comment on publications: PMID: 34010604. 12 individuals from 9 families. 11/12 dilatation of the ascending aorta, 6/12 other abnormalities in great vessels (including ascending aortic aneurysm and carotid artery tortuosity), 6/10 heart malformations, 9/12 dysmorphic features (including proptossi, micrognathia, hypertelorism, frontal bossing and abnormal palate), 12/12 skeletal abnormalities (including hyperlaxity, recurrent joint dislocations, scoliosis, pectus and arachnodactyly), 8/12 skin hyperextensibility, 11/12 umbilical hernia, 7/12 developmental delay or intellectual disability (did not mention severity), 2/12 retinal detachment, 3/12 bilateral cataract (one patient had it at age of 45), 3/3 hyperIgE and IgG, 3/4 hypoIgA, 4/5 hypereosinophilia, 5/12 intestinal inflammation and 6/12 allergic symptoms. Patients were aged between 1 year - 62 years old). PMID: 34010605. 7 individuals from 6 families. 7/7 dysmorphic features (including frontal bossing, hypertelorism, retrognathia and palate abnormalities), 7/7 skeletal findings (including arachnodactyly, joint hypermobility, scoliosis, pectus excavatum and pes planum), 7/7 developmental delay, 2/7 ID (1 mild ID and no severity for the other patient), 5/7 atrial septal defect, 4/7 ventricular septal defect, 6/7 cardiovascular abnormalities with aortic root and/orascending aortic aneurysm, 2/7 marked arterial tortuosity, 5/7 umbilical hernia, 2/7 bruise easily. Authors noted that despite patients having severe aneurysm phenotype none experienced arterial or aortic dissection and concluded that it may be because of the patients' young age (1 year - 19 years old). The study did not look at the immunological profile of the patients. The study also describes a knockout mouse model which recapitulates the human phenotype. |
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| Thoracic aortic aneurysm or dissection (GMS) v1.10 | IPO8 | Ivone Leong Classified gene: IPO8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.10 | IPO8 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.10 | IPO8 | Ivone Leong Gene: ipo8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.9 | IPO8 |
Ivone Leong Added comment: Comment on publications: PMID: 34010604. 12 individuals from 9 families. 11/12 dilatation of the ascending aorta, 6/12 other abnormalities in great vessels (including ascending aortic aneurysm and carotid artery tortuosity), 6/10 heart malformations, 9/12 dysmorphic features (including proptossi, micrognathia, hypertelorism, frontal bossing and abnormal palate), 12/12 skeletal abnormalities (including hyperlaxity, recurrent joint dislocations, scoliosis, pectus and arachnodactyly), 8/12 skin hyperextensibility, 11/12 umbilical hernia, 7/12 developmental delay or intellectual disability (did not mention severity), 2/12 retinal detachment, 3/12 bilateral cataract (one patient had it at age of 45), 3/3 hyperIgE and IgG, 3/4 hypoIgA, 4/5 hypereosinophilia, 5/12 intestinal inflammation and 6/12 allergic symptoms. Patients were aged between 1 year - 62 years old). PMID: 34010605. 7 individuals from 6 families. 7/7 dysmorphic features (including frontal bossing, hypertelorism, retrognathia and palate abnormalities), 7/7 skeletal findings (including arachnodactyly, joint hypermobility, scoliosis, pectus excavatum and pes planum), 7/7 developmental delay, 2/7 ID (1 mild ID and no severity for the other patient), 5/7 atrial septal defect, 4/7 ventricular septal defect, 6/7 cardiovascular abnormalities with aortic root and/orascending aortic aneurysm, 2/7 marked arterial tortuosity, 5/7 umbilical hernia, 2/7 bruise easily. Authors noted that despite patients having severe aneurysm phenotype none experienced arterial or aortic dissection and concluded that it may be because of the patients' young age (1 year - 19 years old). The study did not look at the immunological profile of the patients. |
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| Thoracic aortic aneurysm or dissection (GMS) v1.9 | IPO8 | Ivone Leong Publications for gene: IPO8 were set to 34010604 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.8 | COL5A1 | Ivone Leong Publications for gene: COL5A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.7 | IPO8 |
Zornitza Stark gene: IPO8 was added gene: IPO8 was added to Thoracic aortic aneurysm and dissection. Sources: Literature Mode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IPO8 were set to 34010604 Phenotypes for gene: IPO8 were set to Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities Review for gene: IPO8 was set to GREEN gene: IPO8 was marked as current diagnostic Added comment: 12 individuals from 9 unrelated families in a cohort submitted for publication with bi-allelic IPO8 variants. Variants were nonsense/splice and some missense. Patients displayed a phenotype reminiscent of Loeys Dietz syndrome that variably combined cardiovascular, neurologic, skeletal and immunologic abnormalities along with dysmorphic features. Western blot on patient cells (4 individuals) showed reduced IPO8 expression. Disruption of IPO8 homologue in zebrafish associated with cardiac anomalies. Transcriptome analysis in zebrafish showed that IPO8-deficient zebrafish had abnormal TGFbeta pathway expression. Sources: Literature |
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| Thoracic aortic aneurysm or dissection (GMS) v1.7 | COL5A1 | Zornitza Stark reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32938213; Phenotypes: Fibromuscular dysplasia, multifocal, MIM# 619329; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.7 | THSD4 | Ivone Leong Classified gene: THSD4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.7 | THSD4 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is no phenotypes associated with this gene in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.7 | THSD4 | Ivone Leong Gene: thsd4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.6 | THSD4 | Ivone Leong Tag Q2_21_rating tag was added to gene: THSD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.6 | THSD4 | Ivone Leong Phenotypes for gene: THSD4 were changed from Thoracic aortic aneurysm and dissection (TAAD) to familial thoracic aortic aneurysm and aortic dissection, MONDO:0019625 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.5 | HEY2 | Ivone Leong Classified gene: HEY2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.5 | HEY2 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is not enough evidence to support a gene-disease association. This gene has been given a Red rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.5 | HEY2 | Ivone Leong Gene: hey2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.4 | HEY2 | Ivone Leong Phenotypes for gene: HEY2 were changed from congenital heart defects and thoracic aortic aneurysms to congenital heart defects, multiple type, MONDO:0000119; thoracic aortic aneurysm, MONDO:0005396 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.3 | HEY2 |
Zornitza Stark gene: HEY2 was added gene: HEY2 was added to Thoracic aortic aneurysm and dissection. Sources: Literature Mode of inheritance for gene: HEY2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: HEY2 were set to 32820247 Phenotypes for gene: HEY2 were set to congenital heart defects and thoracic aortic aneurysms Review for gene: HEY2 was set to RED Added comment: A very large family affected by CHD and familial thoracic aortic aneurysms. Trio genome sequencing was carried out in an index patient with critical CHD, and family members had either exome or Sanger sequencing. Identified homozygous loss-of-function variant (c.318_319delAG, p.G108*) in HEY2 in 3 individuals in family with critical CHD, whereas the 20 heterozygous carriers show a spectrum of CVDs (CHD and FTAA, but varying expressivity and incomplete penetrance). Other studies show that knockout of HEY2 in mice results in cardiovascular defects (CVDs), including septal defects, cardiomyopathy, a thin-walled aorta, and valve anomalies. Sources: Literature |
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| Thoracic aortic aneurysm or dissection (GMS) v1.3 | THSD4 |
Zornitza Stark gene: THSD4 was added gene: THSD4 was added to Thoracic aortic aneurysm and dissection. Sources: Literature Mode of inheritance for gene: THSD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: THSD4 were set to 32855533 Phenotypes for gene: THSD4 were set to Thoracic aortic aneurysm and dissection (TAAD) Review for gene: THSD4 was set to GREEN Added comment: 5 heterozygous variants in THSD4 (two lead to a premature termination codon) found in 5 families with TAAD. Variants segregated with disease in other family members. THSD4 encodes ADAMTSL6, a microfibril-associated protein that promotes fibrillin-1 matrix assembly. The THSD4 variants studied lead to haploinsufficiency or impaired assembly of fibrillin-1 microfibrils. Thsd4+/- mice showed progressive dilation of the thoracic aorta. Histologic examination of aortic samples from a patient carrying a THSD4 variant and from Thsd4+/- mice, revealed typical medial degeneration and diffuse disruption of extracellular matrix. Sources: Literature |
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| Thoracic aortic aneurysm or dissection (GMS) v1.3 | FOXE3 | Ivone Leong Tag for-review tag was added to gene: FOXE3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.3 | FOXE3 | Zornitza Stark reviewed gene: FOXE3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30071989; Phenotypes: Aortic aneurysm, familial thoracic 11, (susceptibility to) 617349; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.0 | Ivone Leong promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.61 | Ivone Leong Panel types changed to GMS Rare Disease Virtual; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.60 | SMAD6 | Ivone Leong Phenotypes for gene: SMAD6 were changed from to Aortic valve disease 2 614823 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.59 | SMAD6 | Ivone Leong Publications for gene: SMAD6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.58 | SMAD6 | Ivone Leong Mode of inheritance for gene: SMAD6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.57 | ABL1 | Ivone Leong Classified gene: ABL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.57 | ABL1 | Ivone Leong Gene: abl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.56 | SMAD6 |
Ivone Leong Source Expert Review Green was added to SMAD6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.56 | SMAD4 |
Ivone Leong Source Expert Review Green was added to SMAD4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.56 | SMAD2 |
Ivone Leong Source Expert Review Green was added to SMAD2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.56 | PLOD1 |
Ivone Leong Source Expert Review Green was added to PLOD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.56 | MFAP5 |
Ivone Leong Source Expert Review Green was added to MFAP5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.56 | FOXE3 |
Ivone Leong Source Expert Review Green was added to FOXE3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.56 | FLNA |
Ivone Leong Source Expert Review Green was added to FLNA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.56 | FKBP14 |
Ivone Leong Source Expert Review Green was added to FKBP14. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.56 | FBLN5 |
Ivone Leong Source Expert Review Green was added to FBLN5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.56 | ELN |
Ivone Leong Source Expert Review Green was added to ELN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.55 | ABL1 | Kate Thomson reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.55 | SMAD6 | Kate Thomson reviewed gene: SMAD6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.55 | SMAD4 | Kate Thomson reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.55 | SMAD2 | Kate Thomson reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.55 | PLOD1 | Kate Thomson reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.55 | MFAP5 | Kate Thomson reviewed gene: MFAP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.55 | FOXE3 | Kate Thomson reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.55 | FLNA | Kate Thomson reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.55 | FKBP14 | Kate Thomson reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.55 | FBLN5 | Kate Thomson reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.55 | ELN | Kate Thomson reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.54 | COL3A1 | Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from Monoallelic to Both monoallelic and biallelic based on expert reviews provided. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.54 | COL3A1 | Ivone Leong Mode of inheritance for gene: COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.53 | TGFB3 | Ivone Leong Publications for gene: TGFB3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.52 | SKI | Ivone Leong Publications for gene: SKI were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.51 | PRKG1 | Ivone Leong Publications for gene: PRKG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.50 | NOTCH1 | Ivone Leong Publications for gene: NOTCH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.49 | MYLK | Ivone Leong Publications for gene: MYLK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.48 | FBN2 | Ivone Leong Publications for gene: FBN2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.47 | EFEMP2 | Ivone Leong Publications for gene: EFEMP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.46 | COL5A2 | Ivone Leong Publications for gene: COL5A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.45 | CBS | Ivone Leong Publications for gene: CBS were set to 747076; 18799873; 16733360; 2041851; 23525608 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.44 | FOXE3 | Ivone Leong Phenotypes for gene: FOXE3 were changed from {Aortic aneurysm, familial thoracic 11, susceptibility to} to Aortic aneurysm, familial thoracic 11, (susceptibility to) 617349 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.43 | FOXE3 | Ivone Leong Publications for gene: FOXE3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.42 | FLNA | Ivone Leong Phenotypes for gene: FLNA were changed from Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders to Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders; Cardiac valvular dysplasia, X-linked 314400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.41 | FLNA | Ivone Leong Publications for gene: FLNA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.40 | FKBP14 | Ivone Leong Phenotypes for gene: FKBP14 were changed from to Ehlers-Danlos syndrome, kyphoscoliotic type, 2 614557 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.39 | FKBP14 | Ivone Leong Publications for gene: FKBP14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.38 | ELN | Ivone Leong Publications for gene: ELN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.37 | ABL1 | Ivone Leong Publications for gene: ABL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.36 | LOX | Ivone Leong Publications for gene: LOX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | ZNF469 | Ivone Leong reviewed gene: ZNF469: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | TNXB | Ivone Leong reviewed gene: TNXB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | SLC39A13 | Ivone Leong reviewed gene: SLC39A13: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | PKD2 | Ivone Leong reviewed gene: PKD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | PKD1 | Ivone Leong reviewed gene: PKD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | MYLK2 | Ivone Leong reviewed gene: MYLK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | MAT2A | Ivone Leong reviewed gene: MAT2A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | LTBP2 | Ivone Leong reviewed gene: LTBP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | KCNN1 | Ivone Leong reviewed gene: KCNN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | HNRNPK | Ivone Leong reviewed gene: HNRNPK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | EMILIN1 | Ivone Leong reviewed gene: EMILIN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | COL9A3 | Ivone Leong reviewed gene: COL9A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | COL9A2 | Ivone Leong reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | COL9A1 | Ivone Leong reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | COL4A1 | Ivone Leong reviewed gene: COL4A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | COL2A1 | Ivone Leong reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | COL1A2 | Ivone Leong reviewed gene: COL1A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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) v0.35 | COL11A2 | Ivone Leong reviewed gene: COL11A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | COL11A1 | Ivone Leong reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | CHST14 | Ivone Leong reviewed gene: CHST14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | B4GALT7 | Ivone Leong reviewed gene: B4GALT7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | ATP7A | Ivone Leong reviewed gene: ATP7A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | ATP6V0A2 | Ivone Leong reviewed gene: ATP6V0A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | ALDH18A1 | Ivone Leong reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | ADAMTS2 | Ivone Leong reviewed gene: ADAMTS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | ACVR1 | Ivone Leong reviewed gene: ACVR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | ABCC6 | Ivone Leong reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | MED12 | Ivone Leong reviewed gene: MED12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | FLCN | Ivone Leong reviewed gene: FLCN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | SMAD6 | Ivone Leong reviewed gene: SMAD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | SMAD4 | Ivone Leong reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | SMAD2 | Ivone Leong reviewed gene: SMAD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | PLOD1 | Ivone Leong reviewed gene: PLOD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | MFAP5 | Ivone Leong reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | FOXE3 | Ivone Leong reviewed gene: FOXE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | FLNA | Ivone Leong edited their review of gene: FLNA: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | FKBP14 | Ivone Leong reviewed gene: FKBP14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | FBLN5 | Ivone Leong reviewed gene: FBLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | ELN | Ivone Leong reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | ABL1 | Ivone Leong reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | TGFBR2 | Ivone Leong reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | TGFBR1 | Ivone Leong reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | TGFB3 | Ivone Leong edited their review of gene: TGFB3: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | TGFB2 | Ivone Leong reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | SMAD3 | Ivone Leong reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | SLC2A10 | Ivone Leong edited their review of gene: SLC2A10: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | SKI | Ivone Leong reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | PRKG1 | Ivone Leong reviewed gene: PRKG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | NOTCH1 | Ivone Leong reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | MYLK | Ivone Leong reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | MYH11 | Ivone Leong reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | LOX | Ivone Leong reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | FBN2 | Ivone Leong edited their review of gene: FBN2: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | FBN1 | Ivone Leong reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | EFEMP2 | Ivone Leong reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | COL5A2 | Ivone Leong edited their review of gene: COL5A2: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel. Therefore this gene has been promoted from Amber to Green; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | COL5A1 | Ivone Leong edited their review of gene: COL5A1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel. Therefore this gene has been promoted from Amber to Green; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | COL3A1 | Ivone Leong reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | CBS | Ivone Leong edited their review of gene: CBS: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | BGN | Ivone Leong edited their review of gene: BGN: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel. Therefore this gene has been promoted from Amber to Green; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | ACTA2 | Ivone Leong reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.34 | MED12 |
Ivone Leong Source NHS GMS was added to MED12. Source Expert Review Red was added to MED12. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.34 | FLCN |
Ivone Leong Source NHS GMS was added to FLCN. Source Expert Review Red was added to FLCN. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.34 | SMAD6 |
Ivone Leong Source NHS GMS was added to SMAD6. Source Expert Review Amber was added to SMAD6. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.34 | PLOD1 |
Ivone Leong Source NHS GMS was added to PLOD1. Source Expert Review Amber was added to PLOD1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.34 | FKBP14 |
Ivone Leong Source NHS GMS was added to FKBP14. Source Expert Review Amber was added to FKBP14. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.34 | FBLN5 |
Ivone Leong Source NHS GMS was added to FBLN5. Source Expert Review Amber was added to FBLN5. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.34 | PRKG1 |
Ivone Leong Source Expert Review Green was added to PRKG1. Source NHS GMS was added to PRKG1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.34 | NOTCH1 |
Ivone Leong Source Expert Review Green was added to NOTCH1. Source NHS GMS was added to NOTCH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.34 | LOX |
Ivone Leong Source Expert Review Green was added to LOX. Source NHS GMS was added to LOX. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.34 | EFEMP2 |
Ivone Leong Source Expert Review Green was added to EFEMP2. Source NHS GMS was added to EFEMP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.34 | COL5A2 |
Ivone Leong Source Expert Review Green was added to COL5A2. Source NHS GMS was added to COL5A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.34 | COL5A1 |
Ivone Leong Source Expert Review Green was added to COL5A1. Source NHS GMS was added to COL5A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.34 | BGN |
Ivone Leong Source Expert Review Green was added to BGN. Source NHS GMS was added to BGN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.33 | FBLN5 | Ivone Leong Publications for gene: FBLN5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | COL9A3 | James Eden reviewed gene: COL9A3: Rating: RED; Mode of pathogenicity: None; Publications: 24765306; Phenotypes: Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | COL9A2 | James Eden reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: None; Publications: 30071989; Phenotypes: ?Stickler syndrome, type V 614284, Epiphyseal dysplasia, multiple, 2 600204; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | COL9A1 | James Eden reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: None; Publications: 30071989; Phenotypes: ?Epiphyseal dysplasia, multiple, 6 614135, Stickler syndrome, type IV 614134; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | COL4A1 | James Eden reviewed gene: COL4A1: Rating: RED; Mode of pathogenicity: None; Publications: 20558831; Phenotypes: ?Retinal arteries, tortuosity of 180000, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773, Brain small vessel disease with or without ocular anomalies 175780, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 618564; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | COL2A1 | James Eden reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type I 108300, Spondyloperipheral dysplasia 271700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | COL11A2 | James Eden reviewed gene: COL11A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 13 601868, Deafness, autosomal recessive 53 609706, Fibrochondrogenesis 2 614524, Otospondylomegaepiphyseal dysplasia, autosomal dominant 184840, Otospondylomegaepiphyseal dysplasia, autosomal recessive 215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | COL11A1 | James Eden reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Deafness, autosomal dominant 37 618533, Fibrochondrogenesis 1 228520, Marshall syndrome 154780, Stickler syndrome, type II 604841; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | CHST14 | James Eden reviewed gene: CHST14: Rating: RED; Mode of pathogenicity: None; Publications: 26373698; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | ZNF469 | James Eden reviewed gene: ZNF469: Rating: RED; Mode of pathogenicity: None; Publications: 24895405; Phenotypes: Brittle cornea syndrome 1 229200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | TNXB | James Eden reviewed gene: TNXB: Rating: RED; Mode of pathogenicity: None; Publications: 23830591; Phenotypes: Ehlers-Danlos syndrome, classic-like, 1 606408, Vesicoureteral reflux 8 615963; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | PKD2 | James Eden reviewed gene: PKD2: Rating: RED; Mode of pathogenicity: None; Publications: 10615132, 12874107; Phenotypes: Polycystic kidney disease 2 613095; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | PKD1 | James Eden reviewed gene: PKD1: Rating: RED; Mode of pathogenicity: None; Publications: 17656674, 18679710; Phenotypes: Polycystic kidney disease 1 173900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | LTBP2 | James Eden reviewed gene: LTBP2: Rating: RED; Mode of pathogenicity: None; Publications: 20179738; Phenotypes: ?Weill-Marchesani syndrome 3, recessive 614819, Glaucoma 3, primary congenital, D 613086, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 251750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | KCNN1 | James Eden reviewed gene: KCNN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | HNRNPK | James Eden reviewed gene: HNRNPK: Rating: RED; Mode of pathogenicity: None; Publications: 29904177; Phenotypes: Au-Kline syndrome 616580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | SLC39A13 | James Eden reviewed gene: SLC39A13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 3 612350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | B4GALT7 | James Eden commented on gene: B4GALT7: Not significantly associated with aortopathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | B4GALT7 | James Eden reviewed gene: B4GALT7: Rating: RED; Mode of pathogenicity: None; Publications: 26940150, 28882145; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 1 130070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | ATP7A | James Eden reviewed gene: ATP7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Menkes disease 309400, Occipital horn syndrome 304150, Spinal muscular atrophy, distal, X-linked 3 300489; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | ATP6V0A2 | James Eden commented on gene: ATP6V0A2: No significant association with aortopathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | ATP6V0A2 | James Eden reviewed gene: ATP6V0A2: Rating: RED; Mode of pathogenicity: None; Publications: 19321599; Phenotypes: Cutis laxa, autosomal recessive, type IIA 219200, Wrinkly skin syndrome 278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | ALDH18A1 | James Eden reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal dominant 3 616603, Cutis laxa, autosomal recessive, type IIIA 219150, Spastic paraplegia 9A, autosomal dominant 601162, Spastic paraplegia 9B, autosomal recessive 616586; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | ADAMTS2 | James Eden reviewed gene: ADAMTS2: Rating: RED; Mode of pathogenicity: None; Publications: 26765342; Phenotypes: Ehlers-Danlos syndrome, dermatosparaxis typen 225410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | ACVR1 | James Eden reviewed gene: ACVR1: Rating: RED; Mode of pathogenicity: None; Publications: 22536403; Phenotypes: Fibrodysplasia ossificans progressiva 135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | EMILIN1 | James Eden reviewed gene: EMILIN1: Rating: RED; Mode of pathogenicity: None; Publications: 26462740; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | SMAD6 | James Eden reviewed gene: SMAD6: Rating: AMBER; Mode of pathogenicity: None; Publications: 30796334, 28659821, 30963242; Phenotypes: Aortic valve disease 2 614823; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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) v0.32 | MYLK2 | James Eden reviewed gene: MYLK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 1, digenic 192600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | FKBP14 | James Eden reviewed gene: FKBP14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22265013; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | FBLN5 | James Eden changed review comment from: Gene is associated with cutis laxa, which includes aortic symptoms.; to: Gene is associated with cutis laxa, which includes aortic symptoms. Also associated with age-related macular degeneration and autistic spectrum disorder in HGMD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | FBLN5 | James Eden reviewed gene: FBLN5: Rating: AMBER; Mode of pathogenicity: None; Publications: 12189163, 27089918; Phenotypes: ?Cutis laxa, autosomal dominant 2 614434, Cutis laxa, autosomal recessive, type IA 219100, Macular degeneration, age-related, 3 608895, Neuropathy, hereditary, with or without age-related macular degeneration 608895; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | ABCC6 | James Eden reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: None; Publications: 28102862; Phenotypes: Pseudoxanthoma elasticum 264800, Pseudoxanthoma elasticum, forme fruste 177850, Arterial calcification, generalized, of infancy, 2 614473; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | FLNA | Ivone Leong Added comment: Comment on mode of inheritance: MOI has been corrected. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | FLNA | Ivone Leong Mode of inheritance for gene: FLNA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.31 | BGN | Ivone Leong Added comment: Comment on mode of inheritance: MOI has been corrected. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.31 | BGN | Ivone Leong Mode of inheritance for gene: BGN was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | SMAD4 | James Eden reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: None; Publications: 29392890; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050, Myhre syndrome 139210, Pancreatic cancer, somatic 260350, Polyposis, juvenile intestinal 174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | PRKG1 | James Eden reviewed gene: PRKG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23910461, 30577811; Phenotypes: Aortic aneurysm, familial thoracic 8 615436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | NOTCH1 | James Eden reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29907982, 18593716; Phenotypes: Aortic valve disease 1 109730, Adams-Oliver syndrome 5 616028; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | MFAP5 | James Eden reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: None; Publications: 25434006; Phenotypes: Aortic aneurysm, familial thoracic 9 616166; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | MED12 | James Eden reviewed gene: MED12: Rating: RED; Mode of pathogenicity: None; Publications: 28724790; Phenotypes: Lujan-Fryns syndrome 309520, Ohdo syndrome, X-linked 300895, Opitz-Kaveggia syndrome 305450; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | LOX | James Eden reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 26838787, 27432961; Phenotypes: Aortic aneurysm, familial thoracic 10 617168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | FOXE3 | James Eden reviewed gene: FOXE3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26854927; Phenotypes: Aortic aneurysm, familial thoracic 11, (susceptibility to) 617349; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | EFEMP2 | James Eden reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28868310, 22440127; Phenotypes: Cutis laxa, autosomal recessive, type IB 614437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | COL5A2 | James Eden reviewed gene: COL5A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28868310; Phenotypes: Ehlers-Danlos syndrome, classic type, 2 130010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | COL5A1 | James Eden reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28868310; Phenotypes: Ehlers-Danlos syndrome, classic type, 1 130000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | SLC2A10 | James Eden reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 16550171, 17935213; Phenotypes: Arterial tortuosity syndrome 208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | FBN2 | James Eden reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25944730, 29907982; Phenotypes: Contractural arachnodactyly, congenital 121050, Macular degeneration, early-onset 616118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | PLOD1 | James Eden changed review comment from: Appears to be a rare cause of aortic dilation secondary to bicuspid aortic valve; to: Appears to be a rare cause of aortic dilation secondary to bicuspid aortic valve. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | PLOD1 | James Eden reviewed gene: PLOD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23525417; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 1 225400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | MAT2A | James Eden reviewed gene: MAT2A: Rating: AMBER; Mode of pathogenicity: None; Publications: 25557781; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | SMAD2 | James Eden reviewed gene: SMAD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29392890; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | FLNA | James Eden reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: None; Publications: 29334594; Phenotypes: Cardiac valvular dysplasia, X-linked 314400; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | FLCN | James Eden reviewed gene: FLCN: Rating: RED; Mode of pathogenicity: None; Publications: 20618353; Phenotypes: Birt-Hogg-Dube syndrome 135150, Pneumothorax, primary spontaneous 173600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | ELN | James Eden reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: None; Publications: 27866049, 23250899, 27080061, 16085695; Phenotypes: Cutis laxa, autosomal dominant 123700, Supravalvar aortic stenosis 185500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | BGN | James Eden reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27632686, 17502576; Phenotypes: Meester-Loeys syndrome, 300989, Spondyloepimetaphyseal dysplasia, X-linked, 300106; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | ABL1 | James Eden reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28288113; Phenotypes: Congenital heart defects and skeletal malformations syndrome, 617602; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | TGFB3 | James Eden reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25835445; Phenotypes: Arrhythmogenic right ventricular dysplasia 1 107970, Loeys-Dietz syndrome 5 615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | CBS | James Eden changed review comment from: Aortic root dilation appears to be a rare symptom of homocystinuria, uncertain whether this sufficient for inclusion in the TAAD panel. Gene is not currently tested in TAAD panel.; to: Aortic root dilation appears to be a rare symptom of homocystinuria, uncertain whether this sufficient for inclusion in the TAAD panel. Gene is not currently tested in Manchester TAAD panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | CBS | James Eden changed review comment from: Aortic root dilation appears to be a rare symptom of homocystinuria, uncertain whether these are sufficient grounds for inclusion in the TAAD panel. Gene is not currently tested in TAAD panel.; to: Aortic root dilation appears to be a rare symptom of homocystinuria, uncertain whether this sufficient for inclusion in the TAAD panel. Gene is not currently tested in TAAD panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | CBS | James Eden changed review comment from: Aortic root dilation appears to be a rare symptom of homocystinuria, uncertain whether this is sufficient grounds for inclusion in the TAAD panel. Gene is not currently tested in TAAD panel.; to: Aortic root dilation appears to be a rare symptom of homocystinuria, uncertain whether these are sufficient grounds for inclusion in the TAAD panel. Gene is not currently tested in TAAD panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | CBS | James Eden reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: None; Publications: 28980096; Phenotypes: Homocystinuria, B6-responsive and nonresponsive types 236200, Thrombosis, hyperhomocysteinemic 236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | EMILIN1 | Matthew Edwards reviewed gene: EMILIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | SMAD2 | Matthew Edwards changed review comment from: On CCGL Royal Brompton panel currently. Some good evidence in PMID: 26247899. PMID 29392890 describes variants classified in paper as likely pathogenic causing Loeys-Dietz syndrome, with aortic and aortic root aneurysm and arterial dissection and tortuosity; to: On CGGL Royal Brompton panel currently. Some good evidence in PMID: 26247899. PMID 29392890 describes variants classified in paper as likely pathogenic causing Loeys-Dietz syndrome, with aortic and aortic root aneurysm and arterial dissection and tortuosity | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | EFEMP2 | Matthew Edwards reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20019329, 17937443, 22440127; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | SMAD4 | Matthew Edwards reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: None; Publications: 25931195; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | SMAD2 | Matthew Edwards reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26247899, 29392890; Phenotypes: Loeys-Dietz syndrome (not in OMIM); Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | PRKG1 | Matthew Edwards reviewed gene: PRKG1: Rating: ; Mode of pathogenicity: None; Publications: 23910461, 27442293; Phenotypes: OMIM 615436 Aortic aneurysm, familial thoracic 8; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | PLOD1 | Matthew Edwards reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15666309, 25277362; Phenotypes: OMIM 225400 Ehlers-Danlos syndrome, kyphoscoliotic type, 1; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | MYLK2 | Matthew Edwards reviewed gene: MYLK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | MAT2A | Matthew Edwards reviewed gene: MAT2A: Rating: RED; Mode of pathogenicity: None; Publications: 25557781; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | NOTCH1 | Matthew Edwards reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16729972, 26820064; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | MFAP5 | Matthew Edwards reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | MED12 | Matthew Edwards reviewed gene: MED12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | LOX | Matthew Edwards reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 26838787, 27432961; Phenotypes: OMIM: 617168 Aortic aneurysm, familial thoracic 10; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | FOXE3 | Matthew Edwards reviewed gene: FOXE3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | FLNA | Matthew Edwards reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29334594; Phenotypes: OMIM: 314400 Cardiac valvular dysplasia, X-linked, 300049 Heterotopia, periventricular, 1 (amongst others); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | BGN | Matthew Edwards reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27632686; Phenotypes: OMIM: 300989 Meester-Loeys syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | TGFBR2 | Matthew Edwards reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 610168 Loeys-Dietz syndrome type 2; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | TGFBR1 | Matthew Edwards reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 609192 Loeys-Dietz syndrome; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | TGFB3 | Matthew Edwards reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25835445; Phenotypes: OMIM: 615582 Loeys-Dietz syndrome 5; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | TGFB2 | Matthew Edwards reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 614816 Loeys-Dietz syndrome 4; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | SMAD3 | Matthew Edwards reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 613795 Loeys-Dietz syndrome type 3; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | SLC2A10 | Matthew Edwards reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 208050 Arterial tortuosity syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | SKI | Matthew Edwards reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | MYH11 | Matthew Edwards reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 132900 Aortic aneurysm, familial thoracic 4; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | ELN | Matthew Edwards reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 123700 Cutis Laxa, 185500 supravalvar aortic stenosis; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | FBN2 | Matthew Edwards reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital contractural arachnodactyly; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | FBN1 | Matthew Edwards reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | COL3A1 | Matthew Edwards reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, vascular type; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | CBS | Matthew Edwards reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | ACTA2 | Matthew Edwards reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 6; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | FBN2 | Ivone Leong Classified gene: FBN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | FBN2 | Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on expert reviews. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | FBN2 | Ivone Leong Gene: fbn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.29 | TGFB3 | Ivone Leong Classified gene: TGFB3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.29 | TGFB3 | Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on evidence provided by expert reviews. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.29 | TGFB3 | Ivone Leong Gene: tgfb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.28 | CBS | Ivone Leong Classified gene: CBS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.28 | CBS | Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on evidence provided by expert reviews. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.28 | CBS | Ivone Leong Gene: cbs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.27 | SLC2A10 | Ivone Leong Classified gene: SLC2A10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.27 | SLC2A10 | Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on evidence provided by expert reviews. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.27 | SLC2A10 | Ivone Leong Gene: slc2a10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.26 | COL5A1 | Ivone Leong Classified gene: COL5A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.26 | COL5A1 | Ivone Leong Added comment: Comment on list classification: Promoted from red to amber based on expert reviews. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.26 | COL5A1 | Ivone Leong Gene: col5a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.25 | COL5A2 | Ivone Leong Classified gene: COL5A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.25 | COL5A2 | Ivone Leong Added comment: Comment on list classification: Promoted from red to amber based on expert reviews. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.25 | COL5A2 | Ivone Leong Gene: col5a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.24 | CBS | Ivone Leong Phenotypes for gene: CBS were changed from Marfan syndrome to Marfan syndrome; Homocystinuria, B6-responsive and nonresponsive types, 236200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.23 | SLC2A10 | Ivone Leong Publications for gene: SLC2A10 were set to 22001912; 16550171 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.22 | CBS | Ivone Leong Publications for gene: CBS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.21 | SLC2A10 | Ivone Leong Publications for gene: SLC2A10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.20 | Ivone Leong List of related panels changed from to R125 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.19 | COL11A2 | Ivone Leong Publications for gene: COL11A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.18 | TGFBR2 | Ivone Leong Publications for gene: TGFBR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.17 | TGFBR1 | Ivone Leong Publications for gene: TGFBR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.16 | TGFB2 | Ivone Leong Publications for gene: TGFB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.15 | SMAD3 | Ivone Leong Publications for gene: SMAD3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.14 | MYH11 | Ivone Leong Publications for gene: MYH11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.13 | ACTA2 | Ivone Leong Publications for gene: ACTA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.12 | FBN1 | Ivone Leong Publications for gene: FBN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.11 | COL3A1 | Ivone Leong Publications for gene: COL3A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.10 | PLOD1 | Ellen McDonagh Marked gene: PLOD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.10 | PLOD1 | Ellen McDonagh Gene: plod1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.10 | PLOD1 | Ellen McDonagh Classified gene: PLOD1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.10 | PLOD1 | 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) v0.10 | PLOD1 | Ellen McDonagh Gene: plod1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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) v0.8 | COL5A2 | Ellen McDonagh Marked gene: COL5A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.8 | COL5A2 | Ellen McDonagh Gene: col5a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.8 | COL5A2 | Ellen McDonagh Classified gene: COL5A2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.8 | COL5A2 | 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) v0.8 | COL5A2 | Ellen McDonagh Gene: col5a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.7 | COL5A1 | Ellen McDonagh Marked gene: COL5A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.7 | COL5A1 | Ellen McDonagh Gene: col5a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.7 | COL5A1 | Ellen McDonagh Classified gene: COL5A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.7 | COL5A1 | 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) v0.7 | COL5A1 | Ellen McDonagh Gene: col5a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.6 | COL1A2 | Ellen McDonagh Marked gene: COL1A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.6 | COL1A2 | Ellen McDonagh Gene: col1a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.6 | COL1A2 | Ellen McDonagh Classified gene: COL1A2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.6 | COL1A2 | 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) v0.6 | COL1A2 | Ellen McDonagh Gene: col1a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.5 | COL3A1 | Alison Callaway reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.5 | FBN1 | Alison Callaway reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, Ectopia lentis; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.5 | ACTA2 | Alison Callaway reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.5 | MYH11 | Alison Callaway reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.5 | SMAD3 | Alison Callaway reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.5 | SMAD3 | Alison Callaway Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.5 | SMAD3 | Alison Callaway Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.5 | SMAD3 | Alison Callaway reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.5 | TGFBR2 | Alison Callaway reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.5 | TGFBR1 | Alison Callaway reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.5 | TGFB2 | Alison Callaway reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.5 | COL1A2 |
Alison Callaway changed review comment from: On Wessex aortopathy panel; to date, no pathogenic or likely pathogenic variants have been detected in cases referred for this panel. Associated with EDS (arthrochalasia type) OMIM #130060 and OI (OMIM #166200,166210, 259420, 166220).; to: On Wessex aortopathy panel; to date, no pathogenic or likely pathogenic variants have been detected in cases referred for this panel. Associated with EDS (arthrochalasia type) OMIM #617821 and OI (OMIM #166210, 259420, 166220) and recessive EDS (cardiac valvular type) |
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| 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). |
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| 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) v0.5 | COL1A2 | Alison Callaway reviewed gene: COL1A2: 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) v0.5 | COL5A1 | Alison Callaway reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Classic Ehlers-Danlos syndrome type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.5 | COL5A2 | Alison Callaway reviewed gene: COL5A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Classic Ehlers-Danlos syndrome type 2; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.5 | FBN2 | Alison Callaway reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital contractural arachnodactyly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.5 | SLC2A10 | Alison Callaway reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.5 | SMAD4 | Alison Callaway reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24424121, 25931195; Phenotypes: Myhre syndrome; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.5 | TGFB3 | Alison Callaway reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LOEYS-DIETZ SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.5 | CBS | Alison Callaway reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.5 | MYLK | Matthew Edwards reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27586135, 21055718, 25907466; Phenotypes: Aortic aneurysm, familial thoracic 7 (613780); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.3 |
Ellen McDonagh Panel name changed from GMS FTAAD placeholder panel to Thoracic aortic aneurysm and dissection Panel status changed from internal to public Panel types changed to GMS Rare Disease Virtual |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | ZNF469 |
Ellen McDonagh gene: ZNF469 was added gene: ZNF469 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | TNXB |
Ellen McDonagh gene: TNXB was added gene: TNXB was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | SMAD6 |
Ellen McDonagh gene: SMAD6 was added gene: SMAD6 was added to GMS FTAAD placeholder panel. Sources: London South GLH,Expert Review Red Mode of inheritance for gene: SMAD6 was set to |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | SLC39A13 |
Ellen McDonagh gene: SLC39A13 was added gene: SLC39A13 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | PKD2 |
Ellen McDonagh gene: PKD2 was added gene: PKD2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKD2 were set to Connective Tissue Disorders; Polycystic kidney disease 2, 613095 |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | PKD1 |
Ellen McDonagh gene: PKD1 was added gene: PKD1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKD1 were set to Connective Tissue Disorders; Polycystic kidney disease, adult type I,173900 |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | MYLK2 |
Ellen McDonagh gene: MYLK2 was added gene: MYLK2 was added to GMS FTAAD placeholder panel. Sources: London South GLH,Expert Review Red Mode of inheritance for gene: MYLK2 was set to |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | MAT2A |
Ellen McDonagh gene: MAT2A was added gene: MAT2A was added to GMS FTAAD placeholder panel. Sources: London South GLH,Expert Review Red Mode of inheritance for gene: MAT2A was set to |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | LTBP2 |
Ellen McDonagh gene: LTBP2 was added gene: LTBP2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LTBP2 were set to Marfan syndrome |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | KCNN1 |
Ellen McDonagh gene: KCNN1 was added gene: KCNN1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: KCNN1 was set to Unknown |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | HNRNPK |
Ellen McDonagh gene: HNRNPK was added gene: HNRNPK was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | FKBP14 |
Ellen McDonagh gene: FKBP14 was added gene: FKBP14 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | FBLN5 |
Ellen McDonagh gene: FBLN5 was added gene: FBLN5 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: FBLN5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | EMILIN1 |
Ellen McDonagh gene: EMILIN1 was added gene: EMILIN1 was added to GMS FTAAD placeholder panel. Sources: London South GLH,Expert Review Red Mode of inheritance for gene: EMILIN1 was set to |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | COL9A3 |
Ellen McDonagh gene: COL9A3 was added gene: COL9A3 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | COL9A2 |
Ellen McDonagh gene: COL9A2 was added gene: COL9A2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: COL9A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | COL9A1 |
Ellen McDonagh gene: COL9A1 was added gene: COL9A1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: COL9A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | COL4A1 |
Ellen McDonagh gene: COL4A1 was added gene: COL4A1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL4A1 were set to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773; Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | COL2A1 |
Ellen McDonagh gene: COL2A1 was added gene: COL2A1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | COL11A2 |
Ellen McDonagh gene: COL11A2 was added gene: COL11A2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: COL11A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | COL11A1 |
Ellen McDonagh gene: COL11A1 was added gene: COL11A1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | CHST14 |
Ellen McDonagh gene: CHST14 was added gene: CHST14 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | CBS |
Ellen McDonagh gene: CBS was added gene: CBS was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CBS were set to Marfan syndrome |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | B4GALT7 |
Ellen McDonagh gene: B4GALT7 was added gene: B4GALT7 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | ATP7A |
Ellen McDonagh gene: ATP7A was added gene: ATP7A was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | ATP6V0A2 |
Ellen McDonagh gene: ATP6V0A2 was added gene: ATP6V0A2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | ALDH18A1 |
Ellen McDonagh gene: ALDH18A1 was added gene: ALDH18A1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | ADAMTS2 |
Ellen McDonagh gene: ADAMTS2 was added gene: ADAMTS2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | ACVR1 |
Ellen McDonagh gene: ACVR1 was added gene: ACVR1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | ABL1 |
Ellen McDonagh gene: ABL1 was added gene: ABL1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,South West GLH Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ABL1 were set to Failure to thrive in infancy (HP:0001531); Generalized joint laxity (HP:0002761); Ascending aortic dilation (HP:0004970); Congenital finger flexion contractures (HP:0005879); Hypospadias (HP:0000047); Pectus excavatum (HP:0000767); Congenital heart defects and skeletal malformations syndrome, 617602; Scoliosis (HP:0002650); Congenital septal defect (HP:0004760) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | ABCC6 |
Ellen McDonagh gene: ABCC6 was added gene: ABCC6 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: ABCC6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | TGFB3 |
Ellen McDonagh gene: TGFB3 was added gene: TGFB3 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFB3 were set to Loeys-Dietz syndrome 5, 615582; Arrhythmogenic right ventricular dysplasia 1, 107970 |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | SMAD4 |
Ellen McDonagh gene: SMAD4 was added gene: SMAD4 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | SMAD2 |
Ellen McDonagh gene: SMAD2 was added gene: SMAD2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD2 were set to arterial aneurysms and dissections |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | SLC2A10 |
Ellen McDonagh gene: SLC2A10 was added gene: SLC2A10 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome, 208050; Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | PRKG1 |
Ellen McDonagh gene: PRKG1 was added gene: PRKG1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: PRKG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKG1 were set to Aortic aneurysm, familial thoracic 8, 615436 |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | PLOD1 |
Ellen McDonagh gene: PLOD1 was added gene: PLOD1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLOD1 were set to kyphoscoliotic EDS; Ehlers-Danlos syndrome, type VI, 225400 |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | NOTCH1 |
Ellen McDonagh gene: NOTCH1 was added gene: NOTCH1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NOTCH1 were set to Aortic valve disease 1, 109730 |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | MFAP5 |
Ellen McDonagh gene: MFAP5 was added gene: MFAP5 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: MFAP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MFAP5 were set to Aortic aneurysm, familial thoracic 9, 616166 |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | MED12 |
Ellen McDonagh gene: MED12 was added gene: MED12 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MED12 were set to Lujan-Fryns syndrome, 309520; Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | LOX |
Ellen McDonagh gene: LOX was added gene: LOX was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: LOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LOX were set to Aortic aneurysm, familial thoracic 10, 617168; aortic aneurysm |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | FOXE3 |
Ellen McDonagh gene: FOXE3 was added gene: FOXE3 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: FOXE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FOXE3 were set to {Aortic aneurysm, familial thoracic 11, susceptibility to} |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | FLNA |
Ellen McDonagh gene: FLNA was added gene: FLNA was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FLNA were set to Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | FLCN |
Ellen McDonagh gene: FLCN was added gene: FLCN was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome,135150; Pneumothorax, primary spontaneous, 173600 |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | FBN2 |
Ellen McDonagh gene: FBN2 was added gene: FBN2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FBN2 were set to Congenital Contractural Arachnodactyly; Contractural arachnodactyly, congenital, 121050 |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | ELN |
Ellen McDonagh gene: ELN was added gene: ELN was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ELN were set to Supravalvar aortic stenosis, 185500; Cutis laxa, autosomal dominant, 123700 |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | EFEMP2 |
Ellen McDonagh gene: EFEMP2 was added gene: EFEMP2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB, 614437; aortic aneurysm |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | COL5A2 |
Ellen McDonagh gene: COL5A2 was added gene: COL5A2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome, classic type, 130000; multisystemic smooth muscle dysfunction syndrome |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | COL5A1 |
Ellen McDonagh gene: COL5A1 was added gene: COL5A1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, classic type, 130000; Ehlers-Danlos syndrome vascular type |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | COL1A2 |
Ellen McDonagh gene: COL1A2 was added gene: COL1A2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL1A2 were set to Ehlers-Danlos syndrome, cardiac valvular form; Ehlers-Danlos syndrome, type VIIB |
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| 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 |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | BGN |
Ellen McDonagh gene: BGN was added gene: BGN was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BGN were set to X-linked syndromic TAAD; syndromic thoracic aortic aneurysm and dissection |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | TGFBR2 |
Ellen McDonagh gene: TGFBR2 was added gene: TGFBR2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome; Loeys Dietz syndrome, type 1B, 610168; Loeys Dietz syndrome, type 2 (610168); Loeys Dietz syndrome, type 2B, 610380 |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | TGFBR1 |
Ellen McDonagh gene: TGFBR1 was added gene: TGFBR1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFBR1 were set to Loeys Dietz syndrome, type 2A, 608967; Loeys-Dietz syndrome; Loeys Dietz syndrome, type 1A, 609192; Loeys Dietz syndrome, type 1A (609192) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | TGFB2 |
Ellen McDonagh gene: TGFB2 was added gene: TGFB2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4, 614816; Loeys-Dietz syndrome 4 (614816) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | SMAD3 |
Ellen McDonagh gene: SMAD3 was added gene: SMAD3 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD3 were set to Loeys Dietz syndrome, type 3 (613795); Loeys Dietz syndrome, type 3, 613795 |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | SKI |
Ellen McDonagh gene: SKI was added gene: SKI was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SKI were set to Shprintzen-Goldberg Craniosynostosis Syndrome, 182212; Shprintzen-Goldberg syndrome (182212); Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | MYLK |
Ellen McDonagh gene: MYLK was added gene: MYLK was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH Mode of inheritance for gene: MYLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYLK were set to Aortic aneurysm, familial thoracic 7 (613780); Aortic aneurysm, familial thoracic 7, 613780 |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | MYH11 |
Ellen McDonagh gene: MYH11 was added gene: MYH11 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4, 132900; Aortic aneurysm, familial thoracic 4 (132900) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | FBN1 |
Ellen McDonagh gene: FBN1 was added gene: FBN1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FBN1 were set to Weill-Marchesani syndrome 2, dominant, (608328); Marfan syndrome (154700); Ectopia lentis, familial (129600); Marfan lipodystrophy syndrome (616914); MASS syndrome (604308); Stiff skin syndrome (184900); Geleophysic dysplasia 2 (614185); Marfan Syndrome; Aortic aneurysm, ascending, and dissection; ongenital contracturalarachnodactyly; Acromicric dysplasia (102370) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | COL3A1 |
Ellen McDonagh gene: COL3A1 was added gene: COL3A1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, type IV, 130050; Loeys-Dietz syndrome; Ehlers-Danlos syndrome, vascular type (130050) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | ACTA2 |
Ellen McDonagh gene: ACTA2 was added gene: ACTA2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTA2 were set to Aortic aneurysm, familial thoracic 6, 611788; Aortic aneurysm, familial thoracic 6 (611788); Thoracic aortic aneurysm and dissection; Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5 (614042); Thoracic Aortic Aneurysms and Aortic Dissections; Multisystemic smooth muscle dysfunction syndrome (613834); Moyamoya disease 5, 614042; Isolated familial thoracic aortic aneurysms and dissection |
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| Thoracic aortic aneurysm or dissection (GMS) v0.0 | Ellen McDonagh Added panel GMS FTAAD placeholder panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||