NM_001083603.3(PTCH1):c.4del (p.Glu2fs) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002227460.9
Allele description [Variation Report for NM_001083603.3(PTCH1):c.4del (p.Glu2fs)]
NM_001083603.3(PTCH1):c.4del (p.Glu2fs)
Condition(s)
- Name:
- Gorlin syndrome
- Synonyms:
- Gorlin-Goltz Syndrome; Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies; Fifth Phacomatosis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007187; MedGen: C0004779; Orphanet: 377; OMIM: PS109400
Assertion and evidence details
Last Updated: Jun 9, 2024