Ductal plate malformation
Gene: STN1EnsemblGeneIds (GRCh38): ENSG00000107960
EnsemblGeneIds (GRCh37): ENSG00000107960
OMIM: 613128, Gene2Phenotype
STN1 is in 12 panels
1 review
Ivone Leong (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- Expert list
- Phenotypes
-
- Cerebroretinal microangiopathy with calcifications and cysts 2 (617341)
- OMIM
- 613128
- Clinvar variants
- Variants in STN1
- Penetrance
- None
- Publications
- Panels with this gene
-
- COVID-19 research
- Polycystic liver disease
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Haematological malignancies for rare disease
- Cytopenia - NOT Fanconi anaemia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Paediatric disorders - additional genes
- Ductal plate malformation
- Retinal disorders
- DDG2P
- Haematological malignancies cancer susceptibility
History Filter Activity
Added New Source, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to STN1. Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts 2 (617341) for gene: STN1
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Reported as a probable causati
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: stn1 has been classified as Amber List (Moderate Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: STN1 were set to
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to STN1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)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)