NM_005529.7(HSPG2):c.13163_13164del (p.Pro4388fs) AND Schwartz-Jampel syndrome type 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003234961.1
Allele description [Variation Report for NM_005529.7(HSPG2):c.13163_13164del (p.Pro4388fs)]
NM_005529.7(HSPG2):c.13163_13164del (p.Pro4388fs)
Condition(s)
- Name:
- Schwartz-Jampel syndrome type 1
- Synonyms:
- MYOTONIC MYOPATHY, DWARFISM, CHONDRODYSTROPHY, AND OCULAR AND FACIAL ABNORMALITIES; SCHWARTZ-JAMPEL-ABERFELD SYNDROME; SJA SYNDROME; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0100435; MedGen: C4551479; OMIM: 255800
Assertion and evidence details
Last Updated: Sep 1, 2024