NM_001386393.1(PANK2):c.8G>T (p.Gly3Val) AND Pigmentary pallidal degeneration
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001317637.6
Allele description [Variation Report for NM_001386393.1(PANK2):c.8G>T (p.Gly3Val)]
NM_001386393.1(PANK2):c.8G>T (p.Gly3Val)
Condition(s)
- Name:
- Pigmentary pallidal degeneration (NBIA1)
- Synonyms:
- PKAN NEUROAXONAL DYSTROPHY, JUVENILE-ONSET; Pantothenate kinase-associated neurodegeneration; Neuroaxonal dystrophy, late infantile; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009319; MedGen: C0018523; Orphanet: 157850; OMIM: 234200
Assertion and evidence details
Last Updated: Apr 6, 2024