Neonatal cholestasis

Gene: SLC25A13

Green List (high evidence)

SLC25A13 (solute carrier family 25 member 13)
EnsemblGeneIds (GRCh38): ENSG00000004864
EnsemblGeneIds (GRCh37): ENSG00000004864
OMIM: 603859, Gene2Phenotype
SLC25A13 is in 9 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment when marking as ready: Sufficient evidence to rate green.
Created: 25 Jul 2018, 11:10 a.m.
Comment on phenotypes: Added phenotypes from OMIM
Created: 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.

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis; citrin deficiency

Variants in this GENE are reported as part of current diagnostic practice

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • 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
OMIM
603859
Clinvar variants
Variants in SLC25A13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: slc25a13 has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: slc25a13 has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: SLC25A13 were set to 11281457; 11343052; 12424587

21 Jun 2018, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SLC25A13. Panel: Cholestasis

18 May 2018, Gel status: 2

Added New Source, Set mode of inheritance, Set penetrance

Ellen McDonagh (Genomics England Curator)

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

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC25A13 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

SLC25A13 was created by Ellen McDonagh