NM_153638.4(PANK2):c.54A>G (p.Ser18=) AND Pigmentary pallidal degeneration
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Dec 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000383282.19
Allele description [Variation Report for NM_153638.4(PANK2):c.54A>G (p.Ser18=)]
NM_153638.4(PANK2):c.54A>G (p.Ser18=)
Condition(s)
- Name:
- Pigmentary pallidal degeneration (NBIA1)
- Synonyms:
- PKAN NEUROAXONAL DYSTROPHY, JUVENILE-ONSET; Neuroaxonal dystrophy, late infantile; Hallervorden-Spatz disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009319; MedGen: C0018523; Orphanet: 157850; OMIM: 234200
Assertion and evidence details
Last Updated: Mar 23, 2024