Neonatal cholestasis
Gene: SLC25A13Comment when marking as ready: Sufficient evidence to rate green.Created: 25 Jul 2018, 11:10 a.m.
Comment on phenotypes: Added phenotypes from OMIMCreated: 25 Jul 2018, 11:10 a.m.
Comment on list classification: More than 3 unrelated cases of plausible disease causing mutations in this gene.Created: 25 Jul 2018, 11:09 a.m.
Comment on publications: Added publications relating to cases.Created: 25 Jul 2018, 10:58 a.m.
In OMIM SLC25A13 is associated with Citrullinemia, adult-onset type II and Citrullinemia, type II, neonatal-onset. Another name for Citrullinemia, type II, neonatal-onset is CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY; NICCD. OMIM report the following supporting information for the association with Neonatal-Onset Type II Citrullinemia: Ohura et al. (2001) (PMID: 11281457) described 3 children from 2 different families with neonatal onset of type II citrullinemia due to mutations in the SLC25A13 gene. One patient was a compound heterozygote for the 851del4 and IVS11+1G-A mutations; 2 sibs were homozygotes for the latter mutation. Tazawa et al. (2001)(PMID: 11343052) described 3 children from different families with neonatal onset of type II citrullinemia and were found to have mutations in the SLC25A13 gene. Tamamori et al. (2002) (PMID: 12424587) reported 5 patients with neonatal intrahepatic cholestasis caused by citrin deficiency and confirmed by mutation analysis. No information in Gene2Phenotype. Tazawa et al (2001) describe reports of some homozygotes with an SLC25A13 mutation that are still healthy or have another disease indicating incomplete penetrance.Created: 25 Jul 2018, 10:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis; citrin deficiency
Variants in this GENE are reported as part of current diagnostic practice
One patient with two pathogenic variants in ~200 patients tested; very rare gene, in line with reported findings in literature.
https://www.ncbi.nlm.nih.gov/books/NBK1181/Created: 4 Jun 2018, 1:49 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
This panel has been subjected to extensive internal and external review.
Gene: slc25a13 has been classified as Green List (High Evidence).
Phenotypes for gene: SLC25A13 were set to Neonatal and Adult Cholestasis; Citrullinemia type 2, neonatal onset; Citrullinemia type 2, adult onset; Citrullinemia, adult-onset type II 603471; Citrullinemia, type II, neonatal-onset 605814; CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY; NICCD
Gene: slc25a13 has been classified as Green List (High Evidence).
Publications for gene: SLC25A13 were set to 11281457; 11343052; 12424587
Victorian Clinical Genetics Services was added to SLC25A13. Panel: Cholestasis
UKGTN was added to SLC25A13. Panel: Cholestasis Model of inheritance for gene SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene SLC25A13 were set to Neonatal and Adult Cholestasis, Citrullinemia type 2, neonatal onset, Citrullinemia type 2, adult onset
SLC25A13 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
SLC25A13 was created by Ellen McDonagh