NM_012179.4(FBXO7):c.447G>A (p.Glu149=) AND Parkinsonian-pyramidal syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 21, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001147595.5
Allele description [Variation Report for NM_012179.4(FBXO7):c.447G>A (p.Glu149=)]
NM_012179.4(FBXO7):c.447G>A (p.Glu149=)
Condition(s)
- Name:
- Parkinsonian-pyramidal syndrome
- Synonyms:
- PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE; Pallidopyramidal syndrome; Pallido-pyramidal disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009830; MedGen: C1850100; Orphanet: 171695; OMIM: 260300
Assertion and evidence details
Last Updated: Feb 20, 2024