NM_001002295.2(GATA3):c.863G>C (p.Cys288Ser) AND Hypoparathyroidism, deafness, renal disease syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003991235.2
Allele description [Variation Report for NM_001002295.2(GATA3):c.863G>C (p.Cys288Ser)]
NM_001002295.2(GATA3):c.863G>C (p.Cys288Ser)
Condition(s)
- Name:
- Hypoparathyroidism, deafness, renal disease syndrome (HDRS)
- Synonyms:
- Barakat syndrome; Hypoparathyroidism, sensorineural deafness, and renal dysplasia; HDR syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007797; MedGen: C1840333; Orphanet: 2237; OMIM: 146255
Assertion and evidence details
Last Updated: Jun 2, 2024