Polycystic liver disease interim

Gene: RTEL1

Amber List (moderate evidence)

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

1 review

Ivone Leong (Genomics England Curator)

I don't know

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating.
Created: 12 Mar 2019, 11:28 a.m.
Comment when marking as ready: After discussion with Anna de Burca (Genomics England) and Bill Griffiths (Cambridge University Hospitals), it was decided that RTEL1 will remain as an amber gene.
Created: 26 Nov 2018, 2:50 p.m.
This is confirmed to cause Dyskeratosis congenita on Gene2Phenotype. There are 3 people from 3 different families who have cirrhosis; however, most of these mutations are missense. Also, all 20 variants reported on OMIM have no liver phenotype. There is also liver cirrhosis phenotype that might be with ductal plate malformation. Therefore, promoted gene from red to amber.
Created: 12 Nov 2018, 1:55 p.m.


History Filter Activity

12 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: rtel1 has been classified as Amber List (Moderate Evidence).

12 Mar 2019, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: RTEL1 was added gene: RTEL1 was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RTEL1 were set to 28495916 Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5 (615190); Dyskeratosiscongenita, autosomal dominant 4 (615190)