NM_000052.7(ATP7A):c.2173-2A>G AND Menkes kinky-hair syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 8, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000192993.1
Allele description
NM_000052.7(ATP7A):c.2173-2A>G
Condition(s)
- Name:
- Menkes kinky-hair syndrome (MNK)
- Synonyms:
- Steely hair disease; Menkea syndrome; Kinky hair disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010651; MedGen: C0022716; Orphanet: 565; OMIM: 309400
Assertion and evidence details
Last Updated: Oct 25, 2021