NM_002764.4(PRPS1):c.*538G>T AND Arts syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000263927.5
Allele description [Variation Report for NM_002764.4(PRPS1):c.*538G>T]
NM_002764.4(PRPS1):c.*538G>T
Condition(s)
- Name:
- Arts syndrome (ARTS)
- Synonyms:
- X-linked fatal ataxia with deafness and loss of vision; MENTAL RETARDATION, X-LINKED, SYNDROMIC 18; MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010533; MedGen: C0796028; Orphanet: 1187; OMIM: 301835
Assertion and evidence details
Last Updated: Jun 10, 2023