NM_001184880.2(PCDH19):c.1538del (p.Gly513fs) AND Developmental and epileptic encephalopathy, 9
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003623391.1
Allele description [Variation Report for NM_001184880.2(PCDH19):c.1538del (p.Gly513fs)]
NM_001184880.2(PCDH19):c.1538del (p.Gly513fs)
Condition(s)
- Name:
- Developmental and epileptic encephalopathy, 9 (DEE9)
- Synonyms:
- EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION; JUBERG-HELLMAN SYNDROME; PCDH19-Related X-Linked Female-Limited Epilepsy with Mental Retardation; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010246; MedGen: C1848137; Orphanet: 2076; OMIM: 300088
Assertion and evidence details
Last Updated: Feb 28, 2024