Search GLEAM-DB / CoGenEx-PM3
Advanced search and filters
Input query
Recognized gene
SLC25A13
Normalized c.HGVS
c.1157G>C, c.1274C>T, c.1311C>T, c.1364G>A, c.1393G>T and 25 more
Normalized p.HGVS
p.(=), p.(Ala163Thr), p.(Ala25Thr), p.(Ala306Thr), p.(Arg191Cys) and 25 more
Matching records
111
PM3-positive records
14
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| SLC25A13 |
NM_014251.3:c.1618C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1754G > A; p.Arg585His
context: Confirmed in trans
|
37592284
Genetic screening in a Brazilian cohort with inborn errors of immunity.
BMC genomic data, 2023
|
Main article | |
| SLC25A13 |
NM_014251.3:c.1754G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1618C > T; p.Pro540Ser
context: Confirmed in trans
|
37592284
Genetic screening in a Brazilian cohort with inborn errors of immunity.
BMC genomic data, 2023
|
Main article | |
| SLC25A13 |
NM_014251.3:c.2T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1638_1660dup; p.Ala554GlyfsTer17
context: Compound heterozygous candidate
|
41809964
Looking Beyond Severe Hypertriglyceridemia when Diagnosing Adult-Onset Citrullinemia Type II.
European journal of case reports in internal medicine, 2026
|
Main article | |
| SLC25A13 |
NM_014251.3:c.1475G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.674C>A; p.Ser225*
context: Compound heterozygous candidate
|
40309478
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.
Human mutation, 2025
|
Supplementary material | |
| SLC25A13 |
NM_014251.3:c.2T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
40309478
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.
Human mutation, 2025
|
Main article | |
| SLC25A13 |
NM_014251.3:c.1424G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.159_164inv; p.N54delinsD*
context: Confirmed in trans
|
38610036
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.
Orphanet journal of rare diseases, 2024
|
Main article | |
| SLC25A13 |
NM_014251.3:c.2T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
36599957
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis.
Journal of human genetics, 2023
|
Main article | |
| SLC25A13 |
NM_014251.3:c.2T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.852_855 del
context: Compound heterozygous candidate
|
34323405
A comprehensive and universal approach for embryo testing in patients with different genetic disorders.
Clinical and translational medicine, 2021
|
Main article | |
| SLC25A13 |
NM_014251.3:c.674C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.1018+1G>A
context: Compound heterozygous candidate
|
30799367
The Lack of Hepatocyte Steatosis in Adult-onset Type II Citrullinemia Patients as Assessed by 7-year Interval Paired Biopsies.
Internal medicine (Tokyo, Japan), 2019
|
Main article | |
| SLC25A13 |
NM_014251.3:c.674C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with IVS11+1G>A
context: Compound heterozygous candidate
|
33072931
Early Detection and Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Missed by Newborn Screening Using Tandem Mass Spectrometry.
International journal of neonatal screening, 2018
|
Main article | |
| SLC25A13 |
NM_014251.3:c.2T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1452+1G>A; c.851_854del4
context: Compound heterozygous candidate
|
29152073
Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected SLC25A13 allele.
Oncotarget, 2017
|
Main article | |
| SLC25A13 |
NM_014251.3:c.2T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.790G > A; p.V264I
context: Compound heterozygous candidate
|
27405544
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.
Scientific reports, 2016
|
Main article | |
| SLC25A13 |
NM_014251.3:c.2T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.790G>A; p.V264I
context: Confirmed in trans
|
25216257
Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance.
International journal of molecular medicine, 2014
|
Main article | |
| SLC25A13 |
NM_014251.3:c.1311C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with r.213_328del; r.851_854del; exon 4 skipping
context: Compound heterozygous candidate
|
21507300
[SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2011
|
Main article | |
| SLC25A13 |
NM_014251.3:c.674C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41923674
Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots.
Molecular genetics and metabolism, 2026
|
Unknown | |
| SLC25A13 |
NM_014251.3:c.1658G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41121198
PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review.
BMC medical genomics, 2025
|
Main article | |
| SLC25A13 |
NM_014251.3:c.674C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
40551388
Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of Pathogenic SLC25A13 Variants.
Annals of laboratory medicine, 2025
|
Main article | |
| SLC25A13 |
NM_014251.3:c.1157G>C
|
No PM3 Evidence Identified
Low confidence
|
No PM3 candidate genotype identified |
40309478
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.
Human mutation, 2025
|
Supplementary material | |
| SLC25A13 |
NM_014251.3:c.674C>T
|
No PM3 Evidence Identified
Low confidence
|
No PM3 candidate genotype identified |
40309478
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.
Human mutation, 2025
|
Main article | |
| SLC25A13 |
NM_014251.3:c.1364G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
39776477
Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening.
Frontiers in public health, 2024
|
Main article and supplement | |