NM_000206.3(IL2RG):c.465G>A (p.Trp155Ter) AND X-linked severe combined immunodeficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000781480.1
Allele description [Variation Report for NM_000206.3(IL2RG):c.465G>A (p.Trp155Ter)]
NM_000206.3(IL2RG):c.465G>A (p.Trp155Ter)
Condition(s)
- Name:
- X-linked severe combined immunodeficiency (SCIDX1)
- Synonyms:
- IMMUNODEFICIENCY 4; X-Linked Combined Immunodeficiency Diseases; Severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010315; MedGen: C1279481; Orphanet: 276; OMIM: 300400
Assertion and evidence details
Last Updated: Nov 29, 2022