NM_006493.4(CLN5):c.119del (p.Gly40fs) AND Neuronal ceroid lipofuscinosis 5
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000672485.1
Allele description [Variation Report for NM_006493.4(CLN5):c.119del (p.Gly40fs)]
NM_006493.4(CLN5):c.119del (p.Gly40fs)
Condition(s)
- Name:
- Neuronal ceroid lipofuscinosis 5 (CLN5)
- Synonyms:
- CEROID LIPOFUSCINOSIS, NEURONAL, 5, VARIABLE AGE AT ONSET; Neuronal ceroid lipofuscinosis Finnish variant; NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009745; MedGen: C1850442; Orphanet: 168491; Orphanet: 228360; OMIM: 256731
Assertion and evidence details
Last Updated: Oct 14, 2023