NM_152296.5(ATP1A3):c.1193-4C>G AND Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002259959.1
Allele description [Variation Report for NM_152296.5(ATP1A3):c.1193-4C>G]
NM_152296.5(ATP1A3):c.1193-4C>G
Condition(s)
- Name:
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome (CAPOS)
- Synonyms:
- CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS; Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss; CAPOS syndrome
- Identifiers:
- MONDO: MONDO:0011038; MedGen: C1832466; Orphanet: 1171; OMIM: 601338
Assertion and evidence details
Last Updated: Sep 29, 2024