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| Hereditary Haemorrhagic Telangiectasia v1.5 |
Zornitza Stark HPO terms changed from to Telangiectasia, HP:0001009 List of related panels changed from to Telangiectasia; HP:0001009 |
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| Hereditary Haemorrhagic Telangiectasia v1.4 | GDF2 | Bryony Thompson Mode of inheritance for gene: GDF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v1.3 | GDF2 | Bryony Thompson edited their review of gene: GDF2: Changed phenotypes: Telangiectasia, hereditary hemorrhagic, type 5 615506, pulmonary arteriovenous malformations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v1.3 | GDF2 | Bryony Thompson Phenotypes for gene: GDF2 were changed from Telangiectasia, hereditary hemorrhagic, type 5 615506 to Telangiectasia, hereditary hemorrhagic, type 5 615506; pulmonary arteriovenous malformations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v1.2 | GDF2 | Bryony Thompson Publications for gene: GDF2 were set to 23972370; 27081547; 25674101 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v1.1 | GDF2 | Bryony Thompson Classified gene: GDF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v1.1 | GDF2 | Bryony Thompson Gene: gdf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v1.0 | GDF2 |
Bryony Thompson edited their review of gene: GDF2: Added comment: 4 probands/families with heterozygous variants with features of HHT and supporting in vitro or patient cell assays. 2 probands - PMID: 23972370 - first publication of the HHT gene-disease association describing 3 probands with 3 different missense variants & supporting in vitro functional assays. 1 of the missense variants is present in gnomAD v2.1 at a frequency not expected for the disease (p.Arg333Trp, 115 hets; p.Arg68Leu, 0 hets; p.Pro85Leu, 2 hets) 0 probands - PMID: 27081547 - a suspected HHT case with missense p.Arg317Gln, which is present in 11 hets in gnomAD v2.1 0 probands - PMID: 32573726 - identified 4 GDF2 variants (3 missense and 1 synonymous splice site adjacent without strong splice predictions) in a cohort of HHT cases, 3 had likely pathogenic/pathogenic ENG variants that could explain the phenotype, including a case with GDF2 p.Arg333Trp which was reported as pathogenic in the original publication from 2013 0 probands - PMID: 32992168 - a case with PAVM and no other features of HHT with a heterozygous missense (p.Gly291Ser), which is present in 20 hets in gnomAD v2.1. 1 family - PMID: 34611981 - a suspected HHT case and affected mother had heterozygous missense variant (p.Glu355Gln). Another suspected HHT case had another heterozygous missense variant (p.Val403Ile), but there are 23 hets in gnomAD v2.1. Also, 2 cases with multi-gene deletions including GDF2. 1 family - https://doi.org/10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A6356 - A novel heterozygous GDF2 missense variant was identified in one HHT family from the 100,000 Genomes Project and segregated with disease. The proband was severely affected, having presented in childhood with multiple PAVMs, frequent epistaxis, and typical HHT telangiectasia. Plasma samples form the family showed significantly lower circulating BMP9 levels in affected cars compared to controls 3 homozygous cases with features of HHT, including PAVM: 2 probands - PMID: 33834622 - 2 unrelated paediatric cases with homozygous nonsense variants (p.Gln26Ter, p.Glu279Ter) with facial telangiectases and either pulmonary arterial hypertension or pulmonary arteriovenous malformations (PAVM). Plasma levels of both BMP9 and BMP10 were undetectable. Heterozygous parents did not have any symptoms or clinical signs of HHT. 1 proband - PMID: 32669404 - an 8 yo with epistaxis and diffuse PAVM homozygous for c.1060_1062delinsAG, p.Tyr354ArgfsTer15 (consanguineous family). 7 yo sister homozygous for the same variant had no symptoms, except some telangiectasia. Heterozygous parents had telangiectasia or epistaxis 2 supporting knockout animal models: PMID: 26056270 - knockout mouse model had imperfect closure of ductus arteriosus (an arterial connection in the foetus that directs blood flow away from the pulmonary circulation) PMID: 23972370 - BMP9 knockdown experiments in zebrafish exhibited small but significant decreases in both anterior-posterior and dorsal-ventral axes, as well as subtle defects in the maturation of the caudal vein.; Changed rating: GREEN; Changed publications: 23972370, 27081547, 32573726, 32992168, 34611981, 33834622, 32669404, 26056270, 23972370, https://doi.org/10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A6356; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Hereditary Haemorrhagic Telangiectasia v1.0 | GDF2 | Bryony Thompson Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v1.0 | Zornitza Stark promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.15 | SMAD4 | Zornitza Stark Marked gene: SMAD4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.15 | SMAD4 | Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.15 | SMAD4 | Zornitza Stark Publications for gene: SMAD4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.14 | SMAD4 | Zornitza Stark reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16613914; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.14 | EPHB4 | Zornitza Stark Marked gene: EPHB4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.14 | EPHB4 | Zornitza Stark Gene: ephb4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.14 | EPHB4 | Zornitza Stark Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation-2 to Capillary malformation-arteriovenous malformation-2, MIM# 618196 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.13 | EPHB4 | Zornitza Stark Mode of inheritance for gene: EPHB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.12 | EPHB4 | Zornitza Stark reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Capillary malformation-arteriovenous malformation 2, MIM# 618196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.12 | ENG | Zornitza Stark Marked gene: ENG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.12 | ENG | Zornitza Stark Gene: eng has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.12 | ENG | Zornitza Stark reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.12 | ACVRL1 | Zornitza Stark Marked gene: ACVRL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.12 | ACVRL1 | Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.12 | ACVRL1 | Zornitza Stark Publications for gene: ACVRL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.11 | ACVRL1 | Zornitza Stark reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16542389; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.11 | RASA1 | Zornitza Stark Publications for gene: RASA1 were set to 27081547; 29891884; 30507091 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.10 | RASA1 | Arina Puzriakova reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32900839; Phenotypes: Capillary malformation-arteriovenous malformation 1, 608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.10 | GDF2 | Zornitza Stark Marked gene: GDF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.10 | GDF2 | Zornitza Stark Gene: gdf2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.10 | GDF2 | Zornitza Stark Publications for gene: GDF2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.9 | RASA1 | Zornitza Stark Marked gene: RASA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.9 | RASA1 | Zornitza Stark Added comment: Comment when marking as ready: Similarly to EPHB4, phenotypic overlap with HHT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.9 | RASA1 | Zornitza Stark Gene: rasa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.9 | RASA1 | Zornitza Stark Publications for gene: RASA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.8 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.7 | GDF2 | Bryony Thompson Classified gene: GDF2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.7 | GDF2 | Bryony Thompson Added comment: Comment on list classification: No adequate replication studies exist for this gene, since the initial publication in 2013. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.7 | GDF2 | Bryony Thompson Gene: gdf2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.6 | RASA1 | Naomi Baker reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27081547, 29891884, 30507091; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.6 | GDF2 | Zornitza Stark reviewed gene: GDF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5, MIM# 615506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.6 | GDF2 | Naomi Baker reviewed gene: GDF2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 23972370, 27081547, 25674101.; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.6 | Bryony Thompson Panel types changed to Royal Melbourne Hospital; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.5 |
Bryony Thompson Panel name changed from Hereditary Haemorrhagic Telangiectasia_RMH to Hereditary Haemorrhagic Telangiectasia Panel types changed to Royal Melbourne Hospital |
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| Hereditary Haemorrhagic Telangiectasia v0.1 | Bryony Thompson Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Haemorrhagic Telangiectasia v0.0 | SMAD4 |
Bryony Thompson gene: SMAD4 was added gene: SMAD4 was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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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| Hereditary Haemorrhagic Telangiectasia v0.0 | RASA1 |
Bryony Thompson gene: RASA1 was added gene: RASA1 was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 608354 |
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| Hereditary Haemorrhagic Telangiectasia v0.0 | GDF2 |
Bryony Thompson gene: GDF2 was added gene: GDF2 was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GDF2 were set to Telangiectasia, hereditary hemorrhagic, type 5 615506 |
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| Hereditary Haemorrhagic Telangiectasia v0.0 | EPHB4 |
Bryony Thompson gene: EPHB4 was added gene: EPHB4 was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation-2 |
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| Hereditary Haemorrhagic Telangiectasia v0.0 | ENG |
Bryony Thompson gene: ENG was added gene: ENG was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, 187300; Gastrointestinal telangiectasia (HP:0002604); Palate telangiectasia (HP:0002707); Lip telangiectasia (HP:0000214); Pulmonary arteriovenous malformation (HP:0006548); Nasal mucosa telangiectasia (HP:0000434); Tongue telangiectasia (HP:0000227); Epistaxis (HP:0000421); Cerebral arteriovenous malformation (HP:0002408); Hepatic arteriovenous malformation (HP:0006574; Spinal arteriovenous malformation (HP:0002390); ); Finger pad telangiectasia (pulp not nail side); Arteriovenous malformation (HP:0100026) |
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| Hereditary Haemorrhagic Telangiectasia v0.0 | ACVRL1 |
Bryony Thompson gene: ACVRL1 was added gene: ACVRL1 was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACVRL1 were set to telangiectasia; pulmonary arterial hypertension; epistaxis; pulmonary arteriovenous malformation; cerebral pulmonary arteriovenous malformation; hepatic arteriovenous malformation; Telangiectasia, hereditary hemorrhagic, type 2 600376 |
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| Hereditary Haemorrhagic Telangiectasia v0.0 | Bryony Thompson Added panel Hereditary Haemorrhagic Telangiectasia_RMH | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||