Atypical Haemolytic Uraemic Syndrome_MPGN
Gene: TSEN2EnsemblGeneIds (GRCh38): ENSG00000154743
EnsemblGeneIds (GRCh37): ENSG00000154743
OMIM: 608753, Gene2Phenotype
TSEN2 is in 13 panels
3 reviews
Chirag Patel (Genetic Health Queensland)
Biallelic variants in TSEN2 cause pontocerebellar hypoplasia. Canpolat et a. (2022) report an intronic recessive founder variant in TSEN2 that results in abnormal splicing of the mRNA of this gene, in 6 individuals from 4 consanguineous families. Individuals were affected with microcephaly, craniofacial malformations, CNS abnormalities, cognitive retardation of variable severity, and all individuals developed atypical hemolytic uremic syndrome (aHUS) with thrombotic microangiopathy, microangiopathic hemolytic anemia, thrombocytopenia, proteinuria, severe hypertension, and end-stage kidney disease (ESKD) early in life. Bulk RNA sequencing of peripheral blood cells of 4 affected individuals revealed abnormal tRNA transcripts, indicating an alteration of the tRNA biogenesis. Morpholino-mediated skipping of exon 10 of tsen2 in zebrafish produced phenotypes similar to human patients. Proposed as TRACK syndrome (TSEN2 Related Atypical hemolytic uremic syndrome, Craniofacial malformations, Kidney failure).
Sources: LiteratureCreated: 27 Feb 2022, 11:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TRACK syndrome
Publications
- PMID: 34964109
Bryony Thompson (Royal Melbourne Hospital)
Ataxia is not a prominent feature of this phenotype.
Sources: Expert listCreated: 17 Jan 2020, 12:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 2B, 612389
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least 3 unrelated families reported.Created: 29 Aug 2020, 11:52 a.m. | Last Modified: 29 Aug 2020, 11:52 a.m.
Panel Version: 0.4025
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 2B, MIM# 612389
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Expert Review Green
- Expert list
- Expert list
- Victorian Clinical Genetics Services
- Victorian Clinical Genetics Services
- Phenotypes
-
- TRACK syndrome
- OMIM
- 608753
- Clinvar variants
- Variants in TSEN2
- Penetrance
- None
- Publications
-
- PMID: 34964109
- Panels with this gene
-
- Cerebellar and Pontocerebellar Hypoplasia
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Prepair 1000+
- Microcephaly
- Mendeliome
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Callosome
- Ataxia - paediatric
- Genetic Epilepsy
- Atypical Haemolytic Uraemic Syndrome_MPGN
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tsen2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: tsen2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: TSEN2 was added gene: TSEN2 was added to Atypical Haemolytic Uraemic Syndrome_MPGN. Sources: Literature Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSEN2 were set to PMID: 34964109 Phenotypes for gene: TSEN2 were set to TRACK syndrome Review for gene: TSEN2 was set to GREEN