Ductal plate malformation
Gene: TERT
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, 2:54 p.m.
Confirmed to cause Dyskeratosis congenita on Gene2Phenotype. There are several probands who have this variants in this gene and also display a liver phenotype, which might not be related to ductal plate malformation; however, all variants a substitution mutations (3/23 according to OMIM). Therefore, promoted from red to amber.Created: 12 Nov 2018, 1:55 p.m.
Publications
Source NHS GMS was added to TERT. Added phenotypes {Dyskeratosis congenita, autosomal dominant 2} (613989); {Dyskeratosis congenita, autosomal recessive 4} (613989) for gene: TERT Publications for gene TERT were changed from 19936245; 21483807; 21436073 to 21436073; 19936245; 21483807
Ivone Leong: Confirmed to cause Dyskeratosi
Gene: tert has been classified as Amber List (Moderate Evidence).
Publications for gene: TERT were set to
Source Expert Review Amber was added to TERT. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: TERT was added gene: TERT was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TERT were set to {Dyskeratosis congenita, autosomal recessive 4} (613989); {Dyskeratosis congenita, autosomal dominant 2} (613989)