NM_014009.4(FOXP3):c.140G>T (p.Gly47Val) AND Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000699173.7
Allele description [Variation Report for NM_014009.4(FOXP3):c.140G>T (p.Gly47Val)]
NM_014009.4(FOXP3):c.140G>T (p.Gly47Val)
Condition(s)
- Name:
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome (IPEX)
- Synonyms:
- DIABETES MELLITUS, CONGENITAL INSULIN-DEPENDENT, WITH FATAL SECRETORY DIARRHEA; IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; X-linked autoimmunity-allergic dysregulation syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010580; MedGen: C0342288; Orphanet: 37042; OMIM: 304790
Assertion and evidence details
Last Updated: Feb 14, 2024