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DDG2P

Gene: TMEM260

Green List (high evidence)
TMEM260 (transmembrane protein 260)
EnsemblGeneIds (GRCh38): ENSG00000070269
EnsemblGeneIds (GRCh37): ENSG00000070269
OMIM: 617449, Gene2Phenotype
TMEM260 is in 5 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease Neurodevelopmental, Cardiac, and Renal Syndrome is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:28318500).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental, Cardiac, and Renal Syndrome

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Eleanor Williams (Genomics England Curator)

Removed the GMS review tag. This gene has been added to the 'Paediatric disorders - additional genes' panel with a tag for promoting to green there so that it will be promoted in the next round of updates and then included in the Paediatric disorders super panel.

The DDG2P panel as a whole will shortly be updated to reflect the current status of the DD panel in Gene2Phenotype.
Created: 3 Aug 2022, 4:33 p.m. | Last Modified: 3 Aug 2022, 4:33 p.m.
Panel Version: 2.76
Created: 3 Aug 2022, 4:33 p.m.
Last Modified: 3 Aug 2022, 4:33 p.m.
Panel version: 2.76

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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: 2.49
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 12 Oct 2021, 10:11 a.m. | Last Modified: 12 Oct 2021, 10:11 a.m.
Panel Version: 2.47
Created: 12 Oct 2021, 10:11 a.m.
Last Modified: 12 Oct 2021, 10:11 a.m.
Panel version: 2.49

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable.
Created: 19 Nov 2018, 11:31 a.m.
Created: 19 Nov 2018, 11:31 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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

4 Oct 2023, Gel status: 3

Added New Source, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to TMEM260. Publications for gene: TMEM260 were updated from 28318500; 34612517 to 34612517; 28318500 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

3 Aug 2022, Gel status: 2

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q4_21_rating was removed from gene: TMEM260.

12 Oct 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: TMEM260.

12 Oct 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TMEM260 were set to 28318500

12 Oct 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: TMEM260 were changed from Neurodevelopmental, Cardiac, and Renal Syndrome to Structural heart defects and renal anomalies syndrome OMIM:617478; Structural heart defects and renal anomalies syndrome MONDO:0044321

12 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: tmem260 has been classified as Amber List (Moderate Evidence).

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: TMEM260 was added gene: TMEM260 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM260 were set to 28318500 Phenotypes for gene: TMEM260 were set to Neurodevelopmental, Cardiac, and Renal Syndrome