NM_005027.4(PIK3R2):c.2153C>T (p.Ala718Val) AND Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002580387.2
Allele description [Variation Report for NM_005027.4(PIK3R2):c.2153C>T (p.Ala718Val)]
NM_005027.4(PIK3R2):c.2153C>T (p.Ala718Val)
Condition(s)
- Name:
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1)
- Synonyms:
- MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT; MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME
- Identifiers:
- MONDO: MONDO:0011313; MedGen: C4012727; Orphanet: 83473; OMIM: 603387
Assertion and evidence details
Last Updated: May 1, 2024