NM_002448.3(MSX1):c.655T>C (p.Trp219Arg) AND Hypoplastic enamel-onycholysis-hypohidrosis syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002993706.3
Allele description [Variation Report for NM_002448.3(MSX1):c.655T>C (p.Trp219Arg)]
NM_002448.3(MSX1):c.655T>C (p.Trp219Arg)
Condition(s)
- Name:
- Hypoplastic enamel-onycholysis-hypohidrosis syndrome (TNS)
- Synonyms:
- NAIL DYSPLASIA WITH HYPODONTIA; Witkop syndrome; Dysplasia of nails with hypodontia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008582; MedGen: C0406735; Orphanet: 2228; OMIM: 189500
Assertion and evidence details
Last Updated: Sep 29, 2024