NM_001278716.2(FBXL4):c.1544del (p.Cys515fs) AND Leigh syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002266444.1
Allele description [Variation Report for NM_001278716.2(FBXL4):c.1544del (p.Cys515fs)]
NM_001278716.2(FBXL4):c.1544del (p.Cys515fs)
Condition(s)
- Name:
- Leigh syndrome (NULS)
- Synonyms:
- Leigh Disease; Subacute necrotizing encephalopathy; Necrotizing encephalopathy infantile subacute of Leigh; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009723; MedGen: C0023264; Orphanet: 506; OMIM: 256000
Assertion and evidence details
Last Updated: May 19, 2024