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Hereditary haemorrhagic telangiectasia v2.0 Louise Daugherty promoted panel to version 2.0
Hereditary haemorrhagic telangiectasia v1.52 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Hereditary haemorrhagic telangiectasia v1.51 GDF2 Matthew Edwards reviewed gene: GDF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23972370, 25674101; Phenotypes: OMIM: 615506 Telangiectasia, hereditary hemorrhagic, type 5; Mode of inheritance: None; Current diagnostic: yes
Hereditary haemorrhagic telangiectasia v1.51 SMAD4 Matthew Edwards reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16613914, 15031030, 22810475; Phenotypes: OMIM: 175050 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary haemorrhagic telangiectasia v1.51 ACVRL1 Matthew Edwards changed review comment from: On CGGL Royal Brompton HTT panel. Extensive literature evidence; to: On CGGL Royal Brompton HHT panel. Extensive literature evidence
Hereditary haemorrhagic telangiectasia v1.51 EPHB4 Matthew Edwards reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28687708, 29444212, 30760892; Phenotypes: OMIM: 618196 Capillary malformation-arteriovenous malformation 2, 617300 Lymphatic malformation 7; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary haemorrhagic telangiectasia v1.51 ENG Matthew Edwards reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: 9245986, 7894484, 15879500; Phenotypes: OMIM: 187300 Telangiectasia, hereditary hemorrhagic, type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary haemorrhagic telangiectasia v1.51 ACVRL1 Matthew Edwards reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8640225, 9245985, 12700602; Phenotypes: OMIM: 600376 Telangiectasia, hereditary hemorrhagic, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary haemorrhagic telangiectasia v1.51 Louise Daugherty List of related panels changed from Familial and multiple pulmonary arteriovenous malformations to Familial and multiple pulmonary arteriovenous malformations; R186
Hereditary haemorrhagic telangiectasia v1.50 EPHB4 Louise Daugherty Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation 2; 618196; Capillary malformation, epistaxis, telangiectasia, cerebral AVM to Capillary malformation-arteriovenous malformation 2, 618196; Capillary malformation, epistaxis, telangiectasia, cerebral AVM
Hereditary haemorrhagic telangiectasia v1.49 EPHB4 Louise Daugherty Classified gene: EPHB4 as Green List (high evidence)
Hereditary haemorrhagic telangiectasia v1.49 EPHB4 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.
Hereditary haemorrhagic telangiectasia v1.49 EPHB4 Louise Daugherty Gene: ephb4 has been classified as Green List (High Evidence).
Hereditary haemorrhagic telangiectasia v1.48 EPHB4 Louise Daugherty Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation 2; 618196; capillary malformation, epistaxis, telangiectasia, cerebral AVM to Capillary malformation-arteriovenous malformation 2; 618196; Capillary malformation, epistaxis, telangiectasia, cerebral AVM
Hereditary haemorrhagic telangiectasia v1.47 EPHB4 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Hereditary haemorrhagic telangiectasia panel
Hereditary haemorrhagic telangiectasia v1.47 EPHB4 Louise Daugherty Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation 2; 618196 to Capillary malformation-arteriovenous malformation 2; 618196; capillary malformation, epistaxis, telangiectasia, cerebral AVM
Hereditary haemorrhagic telangiectasia v1.46 EPHB4 Louise Daugherty Added comment: Comment on publications: Added PMID: 30760892 from external reviewer to support upgrading of gene to Green
Hereditary haemorrhagic telangiectasia v1.46 EPHB4 Louise Daugherty Publications for gene: EPHB4 were set to 28687708; 28730721
Hereditary haemorrhagic telangiectasia v1.45 EPHB4 Louise Daugherty Mode of inheritance for gene: EPHB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary haemorrhagic telangiectasia v1.44 EPHB4 Claire Shovlin reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28687708 PMID: 30760892; Phenotypes: capillary malformation, epistaxis, telangiectasia, cerebral AVM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary haemorrhagic telangiectasia v1.44 EPHB4 Ellen Thomas Classified gene: EPHB4 as Amber List (moderate evidence)
Hereditary haemorrhagic telangiectasia v1.44 EPHB4 Ellen Thomas Gene: ephb4 has been classified as Amber List (Moderate Evidence).
Hereditary haemorrhagic telangiectasia v1.43 EPHB4 Ellen Thomas gene: EPHB4 was added
gene: EPHB4 was added to Hereditary haemorrhagic telangiectasia. Sources: Other
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EPHB4 were set to 28687708; 28730721
Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2; 618196
Penetrance for gene: EPHB4 were set to Incomplete
Review for gene: EPHB4 was set to AMBER
Added comment: At least one family in 100k recruited under HHT has a mutation in this gene as it's an overlap condition. Consider whether to include with the GLH specialist group for GMS diagnostic analysis.
Sources: Other
Hereditary haemorrhagic telangiectasia v1.41 ENG Louise Daugherty Added comment: Comment on phenotypes: added phenotypes suggested by expert reviewer
Hereditary haemorrhagic telangiectasia v1.41 ENG Louise Daugherty Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1 187300 to Telangiectasia, hereditary hemorrhagic, type 1, 187300; Epistaxis (HP:0000421); Nasal mucosa telangiectasia (HP:0000434); Lip telangiectasia (HP:0000214); Tongue telangiectasia (HP:0000227); Palate telangiectasia (HP:0002707); Finger pad telangiectasia (pulp not nail side); Gastrointestinal telangiectasia (HP:0002604); Arteriovenous malformation (HP:0100026); Cerebral arteriovenous malformation (HP:0002408); Pulmonary arteriovenous malformation (HP:0006548); Hepatic arteriovenous malformation (HP:0006574; ); Spinal arteriovenous malformation (HP:0002390)
Hereditary haemorrhagic telangiectasia v1.40 ENG Louise Daugherty Added comment: Comment on publications: Added publications suggested by Ian Berry ( GMS Respiratory Specialist Test Group ) that support gene-disease association and rating of this gene to Green.
Hereditary haemorrhagic telangiectasia v1.40 ENG Louise Daugherty Publications for gene: ENG were set to 7894484; 16155196; 14684682
Hereditary haemorrhagic telangiectasia v1.39 BMPR2 Louise Daugherty Added comment: Comment on phenotypes: added phenotype and MIM
Hereditary haemorrhagic telangiectasia v1.39 BMPR2 Louise Daugherty Phenotypes for gene: BMPR2 were changed from to Pulmonary hypertension, familial primary, 1, with or without HHT, 178600
Hereditary haemorrhagic telangiectasia v1.38 BMPR2 Louise Daugherty Mode of inheritance for gene: BMPR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary haemorrhagic telangiectasia v1.37 BMPR2 Louise Daugherty edited their review of gene: BMPR2: Changed rating: AMBER
Hereditary haemorrhagic telangiectasia v1.37 BMPR2 Louise Daugherty commented on gene: BMPR2: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : downgraded from Green to Amber (ref: PMID:18792970)
Hereditary haemorrhagic telangiectasia v1.37 GDF2 Louise Daugherty edited their review of gene: GDF2: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : classified amber on basis of 3 cases (see review); Changed rating: AMBER
Hereditary haemorrhagic telangiectasia v1.37 ACVRL1 Anna de Burca reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30244195; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary haemorrhagic telangiectasia v1.37 BMPR2 Anna de Burca Classified gene: BMPR2 as Amber List (moderate evidence)
Hereditary haemorrhagic telangiectasia v1.37 BMPR2 Anna de Burca Gene: bmpr2 has been classified as Amber List (Moderate Evidence).
Hereditary haemorrhagic telangiectasia v1.36 BMPR2 Anna de Burca reviewed gene: BMPR2: Rating: RED; Mode of pathogenicity: None; Publications: PMID:18792970; Phenotypes: Pulmonary hypertension, familial primary, 1, with or without HHT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary haemorrhagic telangiectasia v1.36 ENG Ian Berry reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary haemorrhagic telangiectasia v1.36 BMPR2 Louise Daugherty Publications for gene: BMPR2 were set to
Hereditary haemorrhagic telangiectasia v1.34 BMPR2 Louise Daugherty Source NHS GMS was added to BMPR2.
Hereditary haemorrhagic telangiectasia v1.34 GDF2 Louise Daugherty Source NHS GMS was added to GDF2.
Hereditary haemorrhagic telangiectasia v1.34 SMAD4 Louise Daugherty Source NHS GMS was added to SMAD4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary haemorrhagic telangiectasia v1.34 ENG Louise Daugherty Source NHS GMS was added to ENG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary haemorrhagic telangiectasia v1.34 ACVRL1 Louise Daugherty Source NHS GMS was added to ACVRL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary haemorrhagic telangiectasia v1.33 BMPR2 Louise Daugherty Classified gene: BMPR2 as Red List (low evidence)
Hereditary haemorrhagic telangiectasia v1.33 BMPR2 Louise Daugherty Gene: bmpr2 has been classified as Red List (Low Evidence).
Hereditary haemorrhagic telangiectasia v1.32 BMPR2 Louise Daugherty reviewed gene: BMPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary haemorrhagic telangiectasia v1.32 GDF2 Louise Daugherty reviewed gene: GDF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary haemorrhagic telangiectasia v1.32 SMAD4 Louise Daugherty reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary haemorrhagic telangiectasia v1.32 ENG Louise Daugherty reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary haemorrhagic telangiectasia v1.32 ACVRL1 Louise Daugherty reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary haemorrhagic telangiectasia v1.31 BMPR2 Louise Daugherty gene: BMPR2 was added
gene: BMPR2 was added to Hereditary haemorrhagic telangiectasia. Sources:
Mode of inheritance for gene: BMPR2 was set to
Hereditary haemorrhagic telangiectasia v1.30 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease
Hereditary haemorrhagic telangiectasia MRE11A Louise Daugherty commented on MRE11A
Hereditary haemorrhagic telangiectasia TEK Ellen McDonagh classified TEK as red
Hereditary haemorrhagic telangiectasia TEK Ellen McDonagh added TEK to panel
Hereditary haemorrhagic telangiectasia TEK Ellen McDonagh reviewed TEK
Hereditary haemorrhagic telangiectasia PIK3CA Ellen McDonagh classified PIK3CA as red
Hereditary haemorrhagic telangiectasia PIK3CA Ellen McDonagh added PIK3CA to panel
Hereditary haemorrhagic telangiectasia PIK3CA Ellen McDonagh reviewed PIK3CA
Hereditary haemorrhagic telangiectasia KRIT1 Ellen McDonagh classified KRIT1 as red
Hereditary haemorrhagic telangiectasia KRIT1 Ellen McDonagh added KRIT1 to panel
Hereditary haemorrhagic telangiectasia KRIT1 Ellen McDonagh reviewed KRIT1
Hereditary haemorrhagic telangiectasia FOXF1 Ellen McDonagh classified FOXF1 as red
Hereditary haemorrhagic telangiectasia FOXF1 Ellen McDonagh added FOXF1 to panel
Hereditary haemorrhagic telangiectasia FOXF1 Ellen McDonagh reviewed FOXF1
Hereditary haemorrhagic telangiectasia GDF2 Ellen McDonagh classified GDF2 as amber
Hereditary haemorrhagic telangiectasia GDF2 Ellen McDonagh classified GDF2 as amber
Hereditary haemorrhagic telangiectasia GDF2 Ellen McDonagh commented on GDF2
Hereditary haemorrhagic telangiectasia RASA1 Sarah Leigh marked RASA1 as ready
Hereditary haemorrhagic telangiectasia RASA1 Sarah Leigh classified RASA1 as red
Hereditary haemorrhagic telangiectasia Sarah Leigh promoted panel to version 1
Hereditary haemorrhagic telangiectasia ATM Sarah Leigh marked ATM as ready
Hereditary haemorrhagic telangiectasia SOX18 Sarah Leigh marked SOX18 as ready
Hereditary haemorrhagic telangiectasia SOX18 Sarah Leigh commented on SOX18
Hereditary haemorrhagic telangiectasia RASA1 Sarah Leigh marked RASA1 as ready
Hereditary haemorrhagic telangiectasia RASA1 Sarah Leigh commented on RASA1
Hereditary haemorrhagic telangiectasia GDF2 Sarah Leigh marked GDF2 as ready
Hereditary haemorrhagic telangiectasia GDF2 Sarah Leigh commented on GDF2
Hereditary haemorrhagic telangiectasia ATR Sarah Leigh marked ATR as ready
Hereditary haemorrhagic telangiectasia ATR Sarah Leigh commented on ATR
Hereditary haemorrhagic telangiectasia GDF2 Sarah Leigh classified GDF2 as red
Hereditary haemorrhagic telangiectasia SMAD4 Sarah Leigh marked SMAD4 as ready
Hereditary haemorrhagic telangiectasia SMAD4 Sarah Leigh commented on SMAD4
Hereditary haemorrhagic telangiectasia ENG Sarah Leigh marked ENG as ready
Hereditary haemorrhagic telangiectasia ENG Sarah Leigh commented on ENG
Hereditary haemorrhagic telangiectasia ATM Sarah Leigh classified ATM as red
Hereditary haemorrhagic telangiectasia ATM Sarah Leigh commented on ATM
Hereditary haemorrhagic telangiectasia ACVRL1 Sarah Leigh marked ACVRL1 as ready
Hereditary haemorrhagic telangiectasia ACVRL1 Sarah Leigh commented on ACVRL1
Hereditary haemorrhagic telangiectasia MRE11A Sarah Leigh marked MRE11A as ready
Hereditary haemorrhagic telangiectasia MRE11A Sarah Leigh classified MRE11A as red
Hereditary haemorrhagic telangiectasia MRE11A Sarah Leigh commented on MRE11A
Hereditary haemorrhagic telangiectasia MRE11A Louise Daugherty commented on MRE11A
Hereditary haemorrhagic telangiectasia GDF2 Claire Shovlin reviewed GDF2
Hereditary haemorrhagic telangiectasia SOX18 Claire Shovlin reviewed SOX18
Hereditary haemorrhagic telangiectasia RASA1 Claire Shovlin reviewed RASA1
Hereditary haemorrhagic telangiectasia MRE11A Claire Shovlin reviewed MRE11A
Hereditary haemorrhagic telangiectasia ATR Claire Shovlin reviewed ATR
Hereditary haemorrhagic telangiectasia ATM Claire Shovlin reviewed ATM
Hereditary haemorrhagic telangiectasia SMAD4 Claire Shovlin reviewed SMAD4
Hereditary haemorrhagic telangiectasia ENG Claire Shovlin edited their review of ENG
Hereditary haemorrhagic telangiectasia ENG Claire Shovlin reviewed ENG
Hereditary haemorrhagic telangiectasia ACVRL1 Claire Shovlin reviewed ACVRL1