NM_000533.5(PLP1):c.113_115del (p.Glu38del) AND Pelizaeus-Merzbacher disease
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 16, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004595772.1
Allele description [Variation Report for NM_000533.5(PLP1):c.113_115del (p.Glu38del)]
NM_000533.5(PLP1):c.113_115del (p.Glu38del)
Condition(s)
- Name:
- Pelizaeus-Merzbacher disease
- Synonyms:
- LEUKODYSTROPHY, HYPOMYELINATING, 1; Pelizaeus Merzbacher brain sclerosis; Sudanophilic leukodystrophy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010714; MedGen: C0205711; Orphanet: 702; OMIM: 312080; Human Phenotype Ontology: HP:0003269
Assertion and evidence details
Last Updated: Jul 29, 2024