NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000763236.6
Allele description [Variation Report for NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)]
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)
Condition(s)
- Name:
- Permanent neonatal diabetes mellitus (PNDM)
- Synonyms:
- Permanent diabetes mellitus of infancy
- Identifiers:
- MONDO: MONDO:0100164; MedGen: C1833104; OMIM: PS606176
- Name:
- Diabetes mellitus, transient neonatal, 2 (TNDM2)
- Identifiers:
- MONDO: MONDO:0012480; MedGen: C1835887; Orphanet: 99886; OMIM: 610374
- Name:
- Hyperinsulinemic hypoglycemia, familial, 1 (HHF1)
- Synonyms:
- HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS; HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY; NESIDIOBLASTOSIS OF PANCREAS; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009734; MedGen: C2931832; Orphanet: 276575; Orphanet: 276598; OMIM: 256450
- Name:
- Leucine-induced hypoglycemia (LIH)
- Synonyms:
- Leucine-sensitive hypoglycemia of infancy; Familial infantile hypoglycemia precipitated by leucine
- Identifiers:
- MONDO: MONDO:0009415; MedGen: C0271714; OMIM: 240800
- Name:
- Type 2 diabetes mellitus
- Synonyms:
- DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus; Diabetes mellitus, noninsulin-dependent, late onset
- Identifiers:
- MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978
Assertion and evidence details
Last Updated: Sep 29, 2024