NM_000158.4(GBE1):c.691+2T>C AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000660553.16
Allele description [Variation Report for NM_000158.4(GBE1):c.691+2T>C]
NM_000158.4(GBE1):c.691+2T>C
Condition(s)
- Name:
- Adult polyglucosan body disease (APBN)
- Synonyms:
- Polyglucosan body disease, adult form
- Identifiers:
- MONDO: MONDO:0009897; MedGen: C1849722; OMIM: 263570
- Name:
- Glycogen storage disease, type IV (GSD4)
- Synonyms:
- GBE1 DEFICIENCY; GLYCOGENOSIS IV; GSD IV; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009292; MedGen: C0017923; Orphanet: 367; OMIM: 232500
Assertion and evidence details
Last Updated: May 1, 2024