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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 v1.41 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 v1.36 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 v1.34 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 v1.32 ENG Louise Daugherty reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary haemorrhagic telangiectasia ENG Sarah Leigh marked ENG as ready
Hereditary haemorrhagic telangiectasia ENG Sarah Leigh commented on ENG
Hereditary haemorrhagic telangiectasia ENG Claire Shovlin edited their review of ENG
Hereditary haemorrhagic telangiectasia ENG Claire Shovlin reviewed ENG