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Cytopenias and congenital anaemias

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 18 panels

2 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Sufficient evidence of causation
Created: 28 Feb 2017, 2:01 p.m.
Biallelic mutations seen in 6/23 cases in above PMID. Heterozygous mutation also reported.
Created: 16 Feb 2017, 4:57 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, autosomal recessive 5 615190; 20q13.33 Dyskeratosis congenita, autosomal dominant 4 615190

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

28 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Feb 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5 615190; Dyskeratosis congenita, autosomal dominant 4 615190

28 Feb 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for RTEL1 were set to 23591994; 23453664; 23329068

28 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Feb 2017, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

RTEL1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

RTEL1 was created by LouiseD