Carnitine palmitoyltransferase II deficiency, lethal neonatal
OMIM:608836Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | CPT2 |
|---|---|
| Reference transcript | NM_000098.2 |
| DNA Change | c.534_558del25insT |
| A.A. Change | p.Leu178_Ile186delinsPhe |
| Exon/Intron | exon 4 |
| Mutation Type | indel |
| Reference | Yahyaoui R, Espinosa MG, Gomez C, Dayaldasani A, Rueda I, Roldan A, Ugarte M, Lastra G, Perez V.Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death. Mol Genet Metab. 2011 Nov;104(3):414-6. |
| Gene Symbol | CPT2 |
|---|---|
| DNA Change | IVS2-1G>A  |
| A.A. Change | |
| Exon/Intron | intron 2 |
| Mutation Type | deletion |
| Reference | Smeets RJ, Smeitink JA, Semmekrot BA, Scholte HR, Wanders RJ, van den Heuvel LP.A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency. J Hum Genet. 2003;48(1):8-13. |
| Gene Symbol | CPT2 |
|---|---|
| Reference transcript | NM_000098.2 |
| DNA Change | c.534_558del25insT |
| A.A. Change | p.Leu178_Ile186delinsPhe |
| Exon/Intron | exon 4 |
| Mutation Type | indel |
| Reference | Smeets RJ, Smeitink JA, Semmekrot BA, Scholte HR, Wanders RJ, van den Heuvel LP.A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency. J Hum Genet. 2003;48(1):8-13. |
Variant not named according to HGVS recommendations