NM_000098.3(CPT2):c.152+5G>A AND Carnitine palmitoyl transferase II deficiency, severe infantile form
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 4, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001810032.1
Allele description [Variation Report for NM_000098.3(CPT2):c.152+5G>A]
NM_000098.3(CPT2):c.152+5G>A
Condition(s)
- Name:
- Carnitine palmitoyl transferase II deficiency, severe infantile form
- Synonyms:
- CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, HEPATOCARDIOMUSCULAR; CPT II DEFICIENCY, HEPATIC; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010914; MedGen: C1833511; Orphanet: 228305; OMIM: 600649
Assertion and evidence details
Last Updated: Mar 5, 2024