NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000541563.9
Allele description
NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val)
Condition(s)
- Name:
- Hereditary spastic paraplegia 9A
- Synonyms:
- SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; CATARACTS WITH MOTOR NEURONOPATHY, SHORT STATURE, AND SKELETAL ABNORMALITIES; Spastic paraplegia 9; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011006; MedGen: C5568978; Orphanet: 100990; Orphanet: 447753; OMIM: 601162
- Name:
- Cutis laxa, autosomal dominant 3 (ADCL3)
- Identifiers:
- MONDO: MONDO:0014706; MedGen: C4225268; Orphanet: 90348; OMIM: 616603
- Name:
- de Barsy syndrome (ARCL3A)
- Synonyms:
- Corneal clouding cutis laxa mental retardation; Progeroid syndrome of De Barsy; Cutis laxa growth deficiency syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0017569; MedGen: C0268354
Assertion and evidence details
Last Updated: Aug 4, 2024