NM_025137.4(SPG11):c.2790del (p.Cys931fs) AND Hereditary spastic paraplegia 11
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 18, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000490287.1
Allele description [Variation Report for NM_025137.4(SPG11):c.2790del (p.Cys931fs)]
NM_025137.4(SPG11):c.2790del (p.Cys931fs)
Condition(s)
- Name:
- Hereditary spastic paraplegia 11
- Synonyms:
- SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, COMPLICATED, WITH THIN CORPUS CALLOSUM; SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM; Spastic Paraplegia 11; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011445; MedGen: C1858479; Orphanet: 2822; OMIM: 604360
Assertion and evidence details
Last Updated: May 16, 2025