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DDG2P

Gene: RTEL1

Green List (high evidence)
RTEL1 (regulator of telomere elongation helicase 1)
EnsemblGeneIds (GRCh38): ENSG00000258366
EnsemblGeneIds (GRCh37): ENSG00000258366
OMIM: 608833, Gene2Phenotype
RTEL1 is in 19 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for RTEL1-related dyskeratosis congenita are moderate, monoallelic_autosomal and loss of function (PMIDs: 23329068, 23453664). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03361. The DDG2P confidence category, allelic requirement and molecular mechanism for RTEL1-related dyskeratosis congenita are definitive, biallelic_autosomal and loss of function (PMIDs: 23329068, 23453664, 23591994, 23959892). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03386.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease RTEL1-related dyskeratosis congenita is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 23329068;23453664). The DDG2P confidence category for the disease RTEL1-related dyskeratosis congenita is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 23329068;23453664).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10
The DDG2P confidence category for the disease DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, OMIM:615190 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:23453664).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
OMIM:615190.0; RTEL1-related dyskeratosis congenita; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, OMIM:615190; MONDO:0014076

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders).
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene RTEL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 615190 for gene: RTEL1

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: RTEL1 was added gene: RTEL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RTEL1 were set to 23453664 Phenotypes for gene: RTEL1 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 615190