CAKUT
Gene: TMEM260As 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
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
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
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
DDG2P rating in original PAGE list: Probable for Neurodevelopmental, Cardiac, and Renal SyndromeCreated: 11 Dec 2018, 9:05 a.m.
Gene: tmem260 has been classified as Green List (High Evidence).
Tag Q4_21_rating was removed from gene: TMEM260.
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