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| Bone Marrow Failure v0.217 | RPS17 | Zornitza Stark Phenotypes for gene: RPS17 were changed from Diamond-Blackfan anemia 4, MIM# 612527 to Diamond-Blackfan anaemia 4, MIM# 612527; MONDO:0012924 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.123 | RPS17 | Zornitza Stark Marked gene: RPS17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.123 | RPS17 | Zornitza Stark Gene: rps17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.123 | RPS17 | Zornitza Stark Classified gene: RPS17 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.123 | RPS17 | Zornitza Stark Gene: rps17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.122 | RPS17 |
Zornitza Stark gene: RPS17 was added gene: RPS17 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS17 were set to 17647292; 19061985; 23812780; 23718193 Phenotypes for gene: RPS17 were set to Diamond-Blackfan anemia 4, MIM# 612527 Review for gene: RPS17 was set to GREEN Added comment: Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anaemia, reticulocytopaenia, and nearly absent erythroid progenitors in the bone marrow. Individuals show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of haemoglobin F. However, some do not exhibit these findings, and even in the same family, symptoms can vary between affected family members. At least 5 families reported with variants in this gene. Sources: Expert list |
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