NM_001083962.2(TCF4):c.1166G>T (p.Arg389Leu) AND Pitt-Hopkins syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 16, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002302436.1
Allele description [Variation Report for NM_001083962.2(TCF4):c.1166G>T (p.Arg389Leu)]
NM_001083962.2(TCF4):c.1166G>T (p.Arg389Leu)
Condition(s)
- Name:
- Pitt-Hopkins syndrome (PTHS)
- Synonyms:
- ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION; MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION; Mental retardation, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea
- Identifiers:
- MONDO: MONDO:0012589; MedGen: C1970431; Orphanet: 2896; OMIM: 610954
Assertion and evidence details
Last Updated: Nov 13, 2022