Hyperammonaemia
Gene: SLC25A13

SLC25A13 (solute carrier family 25 member 13)
EnsemblGeneIds (GRCh38): ENSG00000004864
EnsemblGeneIds (GRCh37): ENSG00000004864
OMIM: 603859, Gene2Phenotype
SLC25A13 is in 10 panels

3 reviews

Peter Clayton (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Citrullinemia, type II,

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least seven variants reported numerous patients
Created: 18 Aug 2016, 1:08 p.m.

Comment on phenotypes: Also associated with Citrullinemia, type II, neonatal-onset 605814
Created: 18 Aug 2016, 1:04 p.m.

Created: 18 Aug 2016, 1:04 p.m.

Panel version: 0.80

Ellen McDonagh (Genomics England Curator)

Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.

Created: 5 Nov 2015, 5:19 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN
Emory Genetics Laboratory

Phenotypes

Citrullinemia, adult-onset type II 603471

OMIM

603859

Clinvar variants

Variants in SLC25A13

Penetrance

Complete

Panels with this gene