Liver Failure_Paediatric
Gene: SLC25A13EnsemblGeneIds (GRCh38): ENSG00000004864
EnsemblGeneIds (GRCh37): ENSG00000004864
OMIM: 603859, Gene2Phenotype
SLC25A13 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive metabolic disorder characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most individuals show spontaneous improvement by 1 year of age. However, some individuals may have a progressive course with continued failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and some may develop chronic or fatal liver disease.
Well established gene-disease association.
Sources: Expert listCreated: 1 Nov 2020, 7:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Citrullinemia, type II, neonatal-onset, MIM# 605814
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Citrullinemia, type II, neonatal-onset, MIM# 605814
- OMIM
- 603859
- Clinvar variants
- Variants in SLC25A13
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Aminoacidopathy
- Additional findings_Paediatric
- Prepair 1000+
- Cholestasis
- Liver Failure_Paediatric
- Mendeliome
- BabyScreen+ newborn screening
- Hyperammonaemia
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Familial hypercholesterolaemia
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc25a13 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc25a13 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC25A13 was added gene: SLC25A13 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A13 were set to 21424115; 11343052 Phenotypes for gene: SLC25A13 were set to Citrullinemia, type II, neonatal-onset, MIM# 605814 Review for gene: SLC25A13 was set to GREEN