NM_001083962.2(TCF4):c.291T>C (p.Asn97=) AND Pitt-Hopkins syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003121684.3
Allele description
NM_001083962.2(TCF4):c.291T>C (p.Asn97=)
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
-
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Last Updated: Feb 20, 2024