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| Mendeliome v2.0 | RACGAP1 | Gene migrated from ENSG00000161800 to ENSG00000161800 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4967 | RACGAP1 | Zornitza Stark Publications for gene: RACGAP1 were set to 34818416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4966 | RACGAP1 | Zornitza Stark Classified gene: RACGAP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4966 | RACGAP1 | Zornitza Stark Gene: racgap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4965 | RACGAP1 |
Rylee Peters changed review comment from: PMID 36200420The study adds three unrelated families with autosomal recessive congenital dyserythropoietic anemia type III caused by homozygous missense RACGAP1 variants (p.Pro432Ser and p.Thr220Ala, the latter present in two families). Variant‑specific functional rescue in patient CD34⁺ erythroid cells and orthogonal HeLa knock‑down/ rescue assays demonstrate a loss‑of‑function mechanism. 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 disease mechanism.; to: 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. |
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| Mendeliome v1.4959 | RACGAP1 | Rylee Peters reviewed gene: RACGAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36200420; Phenotypes: Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive, MONDO:0030711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11512 | RACGAP1 | Zornitza Stark Marked gene: RACGAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11512 | RACGAP1 | Zornitza Stark Gene: racgap1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11512 | RACGAP1 |
Zornitza Stark gene: RACGAP1 was added gene: RACGAP1 was added to Mendeliome. Sources: Expert Review 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 Review |
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