NM_000112.4(SLC26A2):c.1650del (p.Ser551fs) AND Multiple epiphyseal dysplasia type 4
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 23, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000169577.2
Allele description [Variation Report for NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)]
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)
Condition(s)
- Name:
- Multiple epiphyseal dysplasia type 4 (EDM4)
- Synonyms:
- Multiple epiphyseal dysplasia, autosomal recessive; Multiple epiphyseal dysplasia with clubfoot; Multiple epiphyseal dysplasia with double-layered patella; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009189; MedGen: C1847593; Orphanet: 93307; OMIM: 226900
Assertion and evidence details
Last Updated: Oct 8, 2024