Ductal plate malformation
Gene: TERC
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, 2:52 p.m.
The gene is confirmed for causing Dskeratosis congenita on Gene2Phenotype; however, very few cases have been reported to have a liver phenotype. Therefore, have promoted from red to amber.Created: 12 Nov 2018, 1:55 p.m.
Publications
Source NHS GMS was added to TERC. Added phenotypes Dyskeratosiscongenita, autosomal dominant 1 (127550) for gene: TERC Publications for gene TERC were changed from 22341970; 21436073; 19936245 to 21436073; 19936245; 22341970
Ivone Leong: The gene is confirmed for caus
Gene: terc has been classified as Amber List (Moderate Evidence).
Publications for gene: TERC were set to
Source Expert Review Amber was added to TERC. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: TERC was added gene: TERC was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TERC were set to Dyskeratosiscongenita, autosomal dominant 1 (127550)