NM_001034116.2(EIF2B4):c.1310G>T (p.Cys437Phe) AND Vanishing white matter disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000331589.5
Allele description [Variation Report for NM_001034116.2(EIF2B4):c.1310G>T (p.Cys437Phe)]
NM_001034116.2(EIF2B4):c.1310G>T (p.Cys437Phe)
Condition(s)
- Name:
- Vanishing white matter disease
- Synonyms:
- CACH syndrome; Childhood ataxia with diffuse central nervous system hypomyelination; Leukoencephalopathy with vanishing white matter; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0800448; MedGen: C1858991; Orphanet: 99853; OMIM: PS603896
Assertion and evidence details
Last Updated: Sep 29, 2024