Ductal plate malformation
Gene: RTEL1
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.
Publications
Source NHS GMS was added to RTEL1. Added phenotypes Dyskeratosis congenita, autosomal recessive 5 (615190); Dyskeratosiscongenita, autosomal dominant 4 (615190) for gene: RTEL1
Ivone Leong: This is confirmed to cause Dys
Gene: rtel1 has been classified as Amber List (Moderate Evidence).
Publications for gene: RTEL1 were set to
Source Expert Review Amber was added to RTEL1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: RTEL1 was added gene: RTEL1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5 (615190); Dyskeratosiscongenita, autosomal dominant 4 (615190)