NM_004278.4(PIGL):c.130C>T (p.Leu44=) AND CHIME syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001127342.4
Allele description [Variation Report for NM_004278.4(PIGL):c.130C>T (p.Leu44=)]
NM_004278.4(PIGL):c.130C>T (p.Leu44=)
Condition(s)
- Name:
- CHIME syndrome (CHIME)
- Synonyms:
- Zunich neuroectodermal syndrome; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5; COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND EAR ANOMALIES SYNDROME
- Identifiers:
- MONDO: MONDO:0010221; MedGen: C1848392; Orphanet: 3474; OMIM: 280000
Assertion and evidence details
Last Updated: Apr 9, 2023