NM_001611.5(ACP5):c.921C>G (p.Ile307Met) AND Spondyloenchondrodysplasia with immune dysregulation
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000803657.3
Allele description [Variation Report for NM_001611.5(ACP5):c.921C>G (p.Ile307Met)]
NM_001611.5(ACP5):c.921C>G (p.Ile307Met)
Condition(s)
- Name:
- Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
- Synonyms:
- COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL DYSPLASIA; ROIFMAN IMMUNOSKELETAL SYNDROME; SPONDYLOENCHONDRODYSPLASIA WITH OR WITHOUT IMMUNE DYSREGULATION
- Identifiers:
- MONDO: MONDO:0011939; MedGen: C1842763; OMIM: 607944
Assertion and evidence details
Last Updated: Feb 14, 2024