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| Prepair 1000+ v1.1593 | EIF2AK4 | Lilian Downie Marked gene: EIF2AK4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1593 | EIF2AK4 | Lilian Downie Added comment: Comment when marking as ready: Downgrade to orange, onset is usually not until adulthood, teenage onset reported but usually 20's or later | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1593 | EIF2AK4 | Lilian Downie Gene: eif2ak4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1593 | EIF2AK4 | Lilian Downie Publications for gene: EIF2AK4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1568 | EIF2AK4 |
Karina Sandoval changed review comment from: Slowly progressive and ultimately fatal without a lung transplant. Age of onset in 3rd decade. Pulmonary hypertension is a feature of the condition Severe; yes. Early onset; ? PMID:24135949 - 2 affected sibs, aged 19y & 33y at diagnosis. And 2x sporadic cases at 22y & 15y PMID: 24292273 - 13 families with 19 affected individuals. Age of PVOD diagnosis 3x 2nd decade (aged 11, 15 & 19), 9x 3rd decade, 4x 4th decade, 2x 5th decade, 1x 6th decade; to: Slowly progressive and ultimately fatal without a lung transplant. Age of onset in 3rd decade. Pulmonary hypertension is a feature of the condition Well established gene-disease assoc. Severe; yes. Early onset; varies PMID:24135949 - 2 affected sibs, aged 19y & 33y at diagnosis. And 2x sporadic cases at 22y & 15y PMID: 24292273 - 13 families with 19 affected individuals. Age of PVOD diagnosis 3x 2nd decade (aged 11, 15 & 19), 9x 3rd decade, 4x 4th decade, 2x 5th decade, 1x 6th decade |
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| Prepair 1000+ v1.1568 | EIF2AK4 | Karina Sandoval reviewed gene: EIF2AK4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24135949, 24292273; Phenotypes: Pulmonary venoocclusive disease 2, MIM#234810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | EIF2AK4 |
Zornitza Stark gene: EIF2AK4 was added gene: EIF2AK4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EIF2AK4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2, 234810 (3) |
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