NM_018972.4(GDAP1):c.*663T>C AND Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000390421.5
Allele description [Variation Report for NM_018972.4(GDAP1):c.*663T>C]
NM_018972.4(GDAP1):c.*663T>C
Condition(s)
- Name:
- Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
- Synonyms:
- CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE; CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE; Charcot-Marie-Tooth disease, Type 4A, axonal form
- Identifiers:
- MONDO: MONDO:0011898; MedGen: C1843183; Orphanet: 101097; OMIM: 607706
Assertion and evidence details
Last Updated: Apr 9, 2023