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| Red cell disorders v2.0 | RACGAP1 | Gene migrated from ENSG00000161800 to ENSG00000161800 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.66 | RACGAP1 | Zornitza Stark Classified gene: RACGAP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.66 | RACGAP1 | Zornitza Stark Gene: racgap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.65 | RACGAP1 | Zornitza Stark edited their review of gene: RACGAP1: Added comment: PMID 36200420 Reports an additional 3 individuals from 3 families with autosomal recessive RACGAP1 missense variants presenting with congenital dyserythropoietic anemia type III (macrocytic anemia, multinucleated erythroblasts, hepatosplenomegaly). Variants are homozygous missense (p.Pro432Ser, p.Thr220Ala); functional studies in patient CD34+ erythroid cells and HeLa cells demonstrate rescue by wild‑type RACGAP1, supporting loss‑of‑function as a disease mechanism.; Changed rating: GREEN; Changed publications: 34818416, 36200420; Changed phenotypes: Anaemia, congenital dyserythropoietic, type IIIb, autosomal recessive 619789 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.15 | RACGAP1 | Zornitza Stark Marked gene: RACGAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.15 | RACGAP1 | Zornitza Stark Gene: racgap1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.15 | RACGAP1 |
Zornitza Stark gene: RACGAP1 was added gene: RACGAP1 was added to Red cell disorders. Sources: Expert list Mode of inheritance for gene: RACGAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RACGAP1 were set to 34818416 Phenotypes for gene: RACGAP1 were set to Anaemia, congenital dyserythropoietic, type IIIb, autosomal recessive 619789 Review for gene: RACGAP1 was set to RED Added comment: Single affected individual reported. Sources: Expert list |
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