Ductal plate malformation
Gene: STN1
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, 2:51 p.m.
Reported as a probable causative gene for Cerebroretinal microangiopathy with calcifications and cysts 2 on Gene2Phenotype. There are 2 probands born from 2 unrelated families (both are from consanguineous parents) who have the disease and also have liver fibrosis, both are missense variants. Promoted from red to amberCreated: 12 Nov 2018, 1:55 p.m.
Publications
Source NHS GMS was added to STN1. Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts 2 (617341) for gene: STN1
Ivone Leong: Reported as a probable causati
Gene: stn1 has been classified as Amber List (Moderate Evidence).
Publications for gene: STN1 were set to
Source Expert Review Amber was added to STN1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: STN1 was added gene: STN1 was added to Ductal plate malformation (DPM). Sources: Expert list Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2 (617341)