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| Red cell disorders v2.0 | EPAS1 | Gene migrated from ENSG00000116016 to ENSG00000116016 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.48 | EPAS1 | Zornitza Stark Phenotypes for gene: EPAS1 were changed from Erythrocytosis, familial, 4, MIM# 611783 to Erythrocytosis, familial, 4, MIM# 611783; Hereditary anaemia, MONDO:0016624, EPAS1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.47 | EPAS1 | Zornitza Stark Publications for gene: EPAS1 were set to 18184961; 18378852; 22367913; 18650473 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.46 | EPAS1 | Zornitza Stark edited their review of gene: EPAS1: Added comment: PMID 39613395: reports 3 individuals from 3 unrelated families with heterozygous EPAS1 loss-of-function variants (two de novo frameshifts, one maternally inherited missense) presenting with childhood-onset congenital hypoplastic anaemia characterized by normocytic normochromic anaemia, reticulocytopenia and relative EPO deficiency; additional cardiac and neurological features in some patients. In‑vitro functional assays (Western blot, immunofluorescence, co‑IP, luciferase reporter, qPCR) demonstrate reduced protein abundance, impaired nuclear localisation, defective CBP binding and decreased EPO transcription, supporting pathogenicity.; Changed publications: 18184961, 18378852, 22367913, 18650473, 39613395; Changed phenotypes: Erythrocytosis, familial, 4, MIM# 611783, Hereditary anaemia, MONDO:0016624, EPAS1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.149 | EPAS1 | Zornitza Stark Marked gene: EPAS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.149 | EPAS1 | Zornitza Stark Gene: epas1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.149 | EPAS1 | Zornitza Stark Classified gene: EPAS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.149 | EPAS1 | Zornitza Stark Gene: epas1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.148 | EPAS1 |
Zornitza Stark gene: EPAS1 was added gene: EPAS1 was added to Red cell disorders. Sources: Expert list Mode of inheritance for gene: EPAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EPAS1 were set to 18184961; 18378852; 22367913; 18650473 Phenotypes for gene: EPAS1 were set to Erythrocytosis, familial, 4, MIM# 611783 Mode of pathogenicity for gene: EPAS1 was set to Other Review for gene: EPAS1 was set to GREEN Added comment: Most mutations are gain-of-function missense variants in exon 12, but variants in exon 9 have also been described, in association with paraganglioma. Sources: Expert list |
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