NM_003907.3(EIF2B5):c.944G>A (p.Arg315His) AND Vanishing white matter disease
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Mar 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000006314.5
Allele description [Variation Report for NM_003907.3(EIF2B5):c.944G>A (p.Arg315His)]
NM_003907.3(EIF2B5):c.944G>A (p.Arg315His)
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