CAKUT
Gene: TMEM260EnsemblGeneIds (GRCh38): ENSG00000070269
EnsemblGeneIds (GRCh37): ENSG00000070269
OMIM: 617449, Gene2Phenotype
TMEM260 is in 5 panels
5 reviews
Eleanor Williams (Genomics England Curator)
As this panel is 100K only, this gene can be promoted to green without GMS approval.Created: 11 Jun 2022, 5:35 p.m. | Last Modified: 11 Jun 2022, 5:35 p.m.
Panel Version: 1.167
Sarah Leigh (Genomics England Curator)
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least eight variants have been reported in at least six unrelated cases. The variants included: one multi-exon deletion resulting in a frameshift, two smaller frameshifting deletions, two nonsense, one splicing change and two missense changes, one of which was shown by cDNA sequencing to result in skipping of exon 3 (PMID 34612517). Renal features were seen in patients as follows: elevated creatinine levels (6/12), horse-shoe kidneys (1/12) and renal cysts (1/12)(PMID 34612517).Created: 12 Oct 2021, 10:50 a.m. | Last Modified: 28 Oct 2021, 2:58 p.m.
Panel Version: 1.165
Alistair Pagnamenta (University of Oxford)
Using data from the 100K Genomes Project along with international collaboration, we describe 8 individuals from 5 families with rare biallelic variants in TMEM260 (PMID: 34612517). In combination with the data from 2017 study (PMID: 28318500), it appears that cardiac component (VSD which in most cases was secondary to truncus arteriosus) is relatively consistent in comparison to the variable renal involvement.Created: 7 Oct 2021, 2:04 p.m. | Last Modified: 7 Oct 2021, 2:04 p.m.
Panel Version: 1.720
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ventricular septal defects; truncus arteriosus; elevated creatinine levels
Publications
Rhiannon Mellis (Great Ormond Street Hospital)
3 sibs and 1 additional unrelated case reported.
Awaiting reports of further cases.Created: 8 Oct 2020, 2 p.m. | Last Modified: 8 Oct 2020, 2 p.m.
Panel Version: 1.101
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
STructural heart defects; Renal anomalies; Agenesis of corpus callosum
Publications
- PMID: 28318500
Rebecca Foulger (Genomics England curator)
DDG2P rating in original PAGE list: Probable for Neurodevelopmental, Cardiac, and Renal SyndromeCreated: 11 Dec 2018, 9:05 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- PAGE DD-Gene2Phenotype
- Phenotypes
-
- Structural heart defects and renal anomalies syndrome, OMIM:617478
- Structural heart defects and renal anomalies syndrome, MONDO:0044321
- OMIM
- 617449
- Clinvar variants
- Variants in TMEM260
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: tmem260 has been classified as Green List (High Evidence).
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q4_21_rating was removed from gene: TMEM260.
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: TMEM260 was added gene: TMEM260 was added to CAKUT. Sources: Expert Review Amber,PAGE DD-Gene2Phenotype Q4_21_rating tags were added to gene: TMEM260. Mode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM260 were set to 28318500; 34612517 Phenotypes for gene: TMEM260 were set to Structural heart defects and renal anomalies syndrome, OMIM:617478; Structural heart defects and renal anomalies syndrome, MONDO:0044321