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| Mendeliome v2.0 | HROB | Gene symbol changed from C17orf53 to HROB during gene set migration (ENSG00000125319 -> ENSG00000125319) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.1936 | C17orf53 |
Zornitza Stark edited their review of gene: C17orf53: Added comment: PMID 38105698: Additional family reported with two sibs and compound het LoF variants. HGNC approved name is HROB.; Changed rating: GREEN; Changed publications: 34707299, 31467087, 38105698; Changed phenotypes: Ovarian dysgenesis 11, MIM# 620897 |
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| Mendeliome v0.11705 | WAS | Abhijit Kulkarni reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30969660, 34307257, 20301357; Phenotypes: Congenital Neutropenia, Throbocytopenia, Immunodefeciency, Eczema; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11040 | C17orf53 |
Zornitza Stark gene: C17orf53 was added gene: C17orf53 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: C17orf53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C17orf53 were set to 34707299; 31467087 Phenotypes for gene: C17orf53 were set to Primary ovarian insufficiency Review for gene: C17orf53 was set to AMBER Added comment: PMID: 34707299. Homozygous LOF variant in individual with primary ovarian insufficiency PMID: 31467087. Mice with targeted mutations in Hrob are infertile due to depletion of germ cells. Sources: Expert Review |
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| Mendeliome v0.9682 | BMPER |
Zornitza Stark commented on gene: BMPER: Perinatal lethal skeletal dysplasia. The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases. At least 5 unrelated families reported. |
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| Mendeliome v0.7073 | SLC10A1 |
Zornitza Stark gene: SLC10A1 was added gene: SLC10A1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: SLC10A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC10A1 were set to 24867799; 27882152; 28835676; 29290974; 31201272 Phenotypes for gene: SLC10A1 were set to Familial hypercholanemia-2, MIM#619256 Review for gene: SLC10A1 was set to GREEN Added comment: IEM characterised by persistently increased plasma levels of conjugated bile salts apparent from infancy. Most patients are asymptomatic and have no liver dysfunction, although some neonates may have transient jaundice or transiently elevated liver enzymes. These abnormalities improve with age. The bile acid defect can result in impaired absorption of fat-soluble vitamins, including D and K, causing decreased bone mineral density or prolonged prothrobin time (PT). Some variants are recurrent (founder effect likely) but at least 3 different variants reported, mouse model. Sources: Expert list |
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