NM_000975.5(RPL11):c.136_157+26del AND Diamond-Blackfan anemia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 3, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001966162.4
Allele description [Variation Report for NM_000975.5(RPL11):c.136_157+26del]
NM_000975.5(RPL11):c.136_157+26del
Condition(s)
- Name:
- Diamond-Blackfan anemia
- Synonyms:
- Blackfan Diamond syndrome; Anemia congenital erythroid hypoplastic; Aregenerative anemia chronic congenital; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015253; MeSH: D029503; MedGen: C1260899; Orphanet: 124; OMIM: PS105650; Human Phenotype Ontology: HP:0004810
Assertion and evidence details
Last Updated: May 12, 2024