NM_023067.4(FOXL2):c.855_871del (p.Pro287fs) AND BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 1, 2003
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000005134.2
Allele description [Variation Report for NM_023067.4(FOXL2):c.855_871del (p.Pro287fs)]
NM_023067.4(FOXL2):c.855_871del (p.Pro287fs)
Condition(s)
- Name:
- BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II (BPES II)
- Synonyms:
- Blepharophimosis syndrome type 2; BPES type 2; Blepharophimosis, ptosis, and epicanthus inversus type 2; See all synonyms [MedGen]
- Identifiers:
- MedGen: C2931136
Assertion and evidence details
Last Updated: Dec 31, 2022