NM_000303.3(PMM2):c.584_585del (p.His195fs) AND PMM2-congenital disorder of glycosylation
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Feb 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003026962.4
Allele description [Variation Report for NM_000303.3(PMM2):c.584_585del (p.His195fs)]
NM_000303.3(PMM2):c.584_585del (p.His195fs)
Condition(s)
- Name:
- PMM2-congenital disorder of glycosylation
- Synonyms:
- CDG Ia; JAEKEN SYNDROME; PHOSPHOMANNOMUTASE 2 DEFICIENCY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008907; MedGen: C0349653; Orphanet: 79318; OMIM: 212065
Assertion and evidence details
Last Updated: Jan 13, 2025