NM_001182.5(ALDH7A1):c.651-25_651-20del AND Pyridoxine-dependent epilepsy
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Oct 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003117389.13
Allele description [Variation Report for NM_001182.5(ALDH7A1):c.651-25_651-20del]
NM_001182.5(ALDH7A1):c.651-25_651-20del
Condition(s)
- Name:
- Pyridoxine-dependent epilepsy (EPEO4)
- Synonyms:
- Pyridoxine dependency; Pyridoxine dependency with seizures; Vitamin B6-dependent seizures; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009945; MedGen: C1849508; Orphanet: 3006; OMIM: 266100
Assertion and evidence details
Last Updated: Nov 3, 2024