NM_004260.4(RECQL4):c.2412_2420del (p.Ala805_Arg807del) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002500783.1
Allele description [Variation Report for NM_004260.4(RECQL4):c.2412_2420del (p.Ala805_Arg807del)]
NM_004260.4(RECQL4):c.2412_2420del (p.Ala805_Arg807del)
Condition(s)
- Name:
- Baller-Gerold syndrome (BGS)
- Synonyms:
- Craniosynostosis radial aplasia syndrome; Craniosynostosis with radial defects
- Identifiers:
- MONDO: MONDO:0009039; MedGen: C0265308; Orphanet: 1225; OMIM: 218600
Assertion and evidence details
Last Updated: Sep 29, 2024