NM_000308.4(CTSA):c.105C>T (p.Ile35=) AND Combined deficiency of sialidase AND beta galactosidase
- Germline classification:
- Benign/Likely benign (3 submissions)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000387873.15
Allele description [Variation Report for NM_000308.4(CTSA):c.105C>T (p.Ile35=)]
NM_000308.4(CTSA):c.105C>T (p.Ile35=)
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: Oct 8, 2024