Infantile enterocolitis & monogenic inflammatory bowel disease

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

3 reviews

Richard Scott (Genomics England Curator)

Comment on list classification: Enteropathy reported
Created: 13 Oct 2016, 8:53 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Rated green by expert review, and high level of evidence for association with Dyskeratosis congenita, autosomal dominant 4 and Dyskeratosis congenita, autosomal recessive 5 (confirmed DD gene), though unsure whether these diseases always feature colitis/inflammatory bowel disease.
Created: 13 Oct 2016, 2:27 p.m.

Neil shah (GOSH)

Green List (high evidence)

History Filter Activity

14 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

13 Oct 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for RTEL1 was changed to BIALLELIC, autosomal or pseudoautosomal

13 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

13 Oct 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for RTEL1 were set to Hoyeraal Hreidarsson Syndrome; Dyskeratosis congenita, autosomal dominant 4; Dyskeratosis congenita, autosomal recessive 5

13 Oct 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for RTEL1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

13 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RTEL1 was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RTEL1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list