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| Vascular Malformations_Germline v0.119 | ENG | Zornitza Stark Marked gene: ENG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.119 | ENG | Zornitza Stark Gene: eng has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.119 | ENG | Zornitza Stark Publications for gene: ENG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.118 | ENG | Zornitza Stark reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16542389; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.0 | ENG |
Bryony Thompson gene: ENG was added gene: ENG was added to Vascular Malformations_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 Epistaxis (HP:0000421); Spinal arteriovenous malformation (HP:0002390); Tongue telangiectasia (HP:0000227); Telangiectasia, hereditary hemorrhagic, type 1, 187300; Cerebral arteriovenous malformation (HP:0002408); Palate telangiectasia (HP:0002707); Hepatic arteriovenous malformation (HP:0006574; Lip telangiectasia (HP:0000214); Arteriovenous malformation (HP:0100026); Nasal mucosa telangiectasia (HP:0000434); Pulmonary arteriovenous malformation (HP:0006548); ); Finger pad telangiectasia (pulp not nail side); Gastrointestinal telangiectasia (HP:0002604) |
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