NM_000304.4(PMP22):c.434del (p.Leu145fs) AND Roussy-Lévy syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001198269.3
Allele description [Variation Report for NM_000304.4(PMP22):c.434del (p.Leu145fs)]
NM_000304.4(PMP22):c.434del (p.Leu145fs)
Condition(s)
- Name:
- Roussy-Lévy syndrome
- Synonyms:
- Roussy-Levy Syndrome; Roussy Levy hereditary areflexic dystasia; Roussy-Levy disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008392; MedGen: C0205713; Orphanet: 3115; OMIM: 180800
Assertion and evidence details
Last Updated: May 7, 2024