NM_018972.2(GDAP1):c.[347T>C];[62delA] AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 1, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000196703.2
Allele description [Variation Report for NM_018972.2(GDAP1):c.[347T>C];[62delA]]
NM_018972.4(GDAP1):c.347T>C (p.Met116Thr)
NM_018972.4(GDAP1):c.62del (p.Asp21fs)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease axonal type 2K
- Synonyms:
- CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2K; Charcot-Marie-Tooth disease type 2K; Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K
- Identifiers:
- MONDO: MONDO:0011916; MedGen: C1842983; Orphanet: 99944; OMIM: 607831
- Name:
- Charcot-Marie-Tooth disease type 4A
- Synonyms:
- Charcot-Marie-Tooth disease, demyelinating, autosomal recessive; Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4a; Charcot-Marie-Tooth Neuropathy Type 4A
- Identifiers:
- MONDO: MONDO:0008961; MedGen: C1859198; Orphanet: 99948; OMIM: 214400
- 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: Jan 26, 2024