NM_004484.4(GPC3):c.780G>A (p.Trp260Ter) AND Simpson-Golabi-Behmel syndrome type 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003990008.1
Allele description [Variation Report for NM_004484.4(GPC3):c.780G>A (p.Trp260Ter)]
NM_004484.4(GPC3):c.780G>A (p.Trp260Ter)
Condition(s)
- Name:
- Simpson-Golabi-Behmel syndrome type 1 (SGBS1)
- Synonyms:
- Simpson dysmorphia syndrome; Bulldog syndrome; Golabi-Rosen syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0020602; MedGen: C0796154; Orphanet: 373; OMIM: 312870
Assertion and evidence details
Last Updated: Apr 6, 2024