NM_004085.4(TIMM8A):c.127T>C (p.Cys43Arg) AND Deafness dystonia syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000990914.2
Allele description [Variation Report for NM_004085.4(TIMM8A):c.127T>C (p.Cys43Arg)]
NM_004085.4(TIMM8A):c.127T>C (p.Cys43Arg)
Condition(s)
- Name:
- Deafness dystonia syndrome (MTS)
- Synonyms:
- Mohr-Tranebjaerg syndrome; Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency; Deafness-dystonia-optic atrophy syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010578; MedGen: C0796074; Orphanet: 52368; OMIM: 304700
Assertion and evidence details
Last Updated: May 1, 2024