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| Pulmonary Arterial Hypertension v1.52 | RNF213 | Zornitza Stark Marked gene: RNF213 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.52 | RNF213 | Zornitza Stark Gene: rnf213 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.52 | RNF213 | Zornitza Stark Phenotypes for gene: RNF213 were changed from to Moyamoya disease, MONDO:0016820 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.51 | RNF213 | Zornitza Stark edited their review of gene: RNF213: Changed phenotypes: Moyamoya disease, MONDO:0016820 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.51 | RNF213 |
Zornitza Stark gene: RNF213 was added gene: RNF213 was added to Pulmonary Arterial Hypertension. Sources: Literature Mode of inheritance for gene: RNF213 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNF213 were set to 28962888 Review for gene: RNF213 was set to RED Added comment: Five unrelated adults (four males, one female; median diagnosis age 26 y) reported with peripheral pulmonary artery stenosis (PPAS) presenting with pulmonary hypertension, a characteristic string‑of‑beads pattern on angiography and multiple extracranial vascular lesions. All five were homozygous for the missense RNF213 p.Arg4810Lys (c.14429G>A) variant; three also had Moyamoya disease (MMD). Sources: Literature |
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