NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003224865.3
Allele description [Variation Report for NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)]
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)
Condition(s)
- Name:
- Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
- Synonyms:
- ARTHROGRYPOSIS, DISTAL, TYPE 5; ARTHROGRYPOSIS, DISTAL, TYPE IIB; Oculomelic amyoplasia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007158; MedGen: C1862472; Orphanet: 1154; OMIM: 108145
- Name:
- Gordon syndrome (DA3)
- Synonyms:
- ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA; Arthrogryposis distal type 3; Arthrogryposis multiplex congenita distal type 2a; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007252; MedGen: C0220666; Orphanet: 376; OMIM: 114300
Assertion and evidence details
Last Updated: Aug 18, 2024