Hyperammonaemia

Gene: SLC25A15

Green List (high evidence)

SLC25A15 (solute carrier family 25 member 15)
EnsemblGeneIds (GRCh38): ENSG00000102743
EnsemblGeneIds (GRCh37): ENSG00000102743
OMIM: 603861, Gene2Phenotype
SLC25A15 is in 9 panels

2 reviews

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.

Peter Clayton (UCL Institute of Child Health)

Green List (high evidence)

Repetition in phenotype. Why -3 after 238970?
Created: 5 Nov 2015, 4:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome; Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 -3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970
OMIM
603861
Clinvar variants
Variants in SLC25A15
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Nov 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 on 22nd November 2016

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Dec 2015, Gel status: 3

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970

5 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

SLC25A15 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory

5 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

SLC25A15 was added to Hyperammonaemiapanel. Sources: Radboud University Medical Center, Nijmegen

5 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

SLC25A15 was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services