NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn) AND multiple conditions
- Germline classification:
- no classifications from unflagged records (1 submission)
- Last evaluated:
- Feb 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000855489.2
Allele description [Variation Report for NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)]
NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)
Condition(s)
- Name:
- Fetal akinesia deformation sequence 1 (FADS1)
- Synonyms:
- Pena Shokeir syndrome, type 1; Lethal Pena-Shokeir 1 syndrome; Pena-Shokeir syndrome type I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0100101; MedGen: C1276035; Orphanet: 994; OMIM: 208150; Human Phenotype Ontology: HP:0001989
- Name:
- Arthrogryposis multiplex congenita (AMC)
- Synonyms:
- Congenital multiple arthrogryposis; Fibrous ankylosis of multiple joints; Congenital arthromyodysplasia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015168; MeSH: D001176; MedGen: C5779613; Orphanet: 1037; OMIM: PS617468; Human Phenotype Ontology: HP:0002804
Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000996619 | Cirak Lab, University Hospital Cologne | flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (ACMG Guidelines, 2015) | Likely pathogenic (Jun 28, 2019) | unknown | research |
Last Updated: Jan 19, 2025