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 10 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jan 2019, 10:41 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: SLC25A13; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 7 Jan 2019, 4:42 p.m.

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
  • Other
  • NHS GMS
Phenotypes
  • CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY
  • NICCD
  • Citrullinemia type 2, neonatal onset
  • Citrullinemia type 2, adult onset
  • Citrullinemia, adult-onset type II 603471
  • Citrullinemia, type II, neonatal-onset 605814
  • Neonatal and Adult Cholestasis
OMIM
603859
Clinvar variants
Variants in SLC25A13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

14 Jan 2019, Gel status: 4

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source Other was added to SLC25A13. Mode of inheritance for gene SLC25A13 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY; NICCD; Citrullinemia type 2, neonatal onset; Citrullinemia type 2, adult onset; Citrullinemia, adult-onset type II 603471; Citrullinemia, type II, neonatal-onset 605814; Neonatal and Adult Cholestasis for gene: SLC25A13 Publications for gene SLC25A13 were changed from to 11343052; 11281457; 12424587

7 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to SLC25A13. Rating Changed from Red List (low evidence) to Green List (high evidence)

7 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: SLC25A13 was added gene: SLC25A13 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: SLC25A13 was set to