NM_000308.4(CTSA):c.574A>C (p.Met192Leu) AND Combined deficiency of sialidase AND beta galactosidase
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 2, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001142771.5
Allele description [Variation Report for NM_000308.4(CTSA):c.574A>C (p.Met192Leu)]
NM_000308.4(CTSA):c.574A>C (p.Met192Leu)
Condition(s)
- Name:
- Combined deficiency of sialidase AND beta galactosidase (GSL)
- Synonyms:
- CATHEPSIN A DEFICIENCY; Galactosialidosis; Goldberg syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009737; MedGen: C0268233; Orphanet: 351; OMIM: 256540
Assertion and evidence details
Last Updated: Apr 9, 2023