Paediatric disorders - additional genes
Gene: TMEM260
The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 10:54 a.m. | Last Modified: 31 Jan 2023, 10:54 a.m.
Panel Version: 2.7
Copied this gene from the Fetal anomilies/DDG2P panel on the advice on the Genomics England Clinical team as it is relevant to the Paediatric disorders super panel. If it is updated in an update of the DDG2P panel then it is not needed here, but otherwise is on this panel so that it will appear in the super panel.
It should be rated green following the next review.Created: 27 Jul 2022, 1:26 p.m. | Last Modified: 27 Jul 2022, 1:26 p.m.
Panel Version: 1.105
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).Created: 12 Oct 2021, 10:50 a.m. | Last Modified: 12 Oct 2021, 10:50 a.m.
Panel Version: 1.722
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 12 Oct 2021, 10:01 a.m. | Last Modified: 12 Oct 2021, 10:01 a.m.
Panel Version: 1.722
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.
Tag Q3_22_rating was removed from gene: TMEM260.
Source Expert Review Green was added to TMEM260. Source NHS GMS was added to TMEM260. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_21_rating was removed from gene: TMEM260. Tag Q3_22_rating tag was added to gene: TMEM260.
gene: TMEM260 was added gene: TMEM260 was added to Paediatric disorders - additional genes. 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