White matter disorders and cerebral calcification - narrow panel
Gene: STN1EnsemblGeneIds (GRCh38): ENSG00000107960
EnsemblGeneIds (GRCh37): ENSG00000107960
OMIM: 613128, Gene2Phenotype
STN1 is in 12 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 9 Mar 2022, 4:29 p.m. | Last Modified: 9 Mar 2022, 4:29 p.m.
Panel Version: 1.223
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least four variants reported in three unrelated cases, together with a supportive zebrafish model and other functional studies.Created: 17 Nov 2020, 11:21 a.m. | Last Modified: 17 Nov 2020, 11:21 a.m.
Panel Version: 1.26
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 17 Nov 2020, 11:13 a.m. | Last Modified: 17 Nov 2020, 11:13 a.m.
Panel Version: 1.26
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Zornitza Stark (Australian Genomics)
Three individuals from unrelated families described with a multisystem disorder characterized by premature aging, pancytopaenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding, as well as intracranial calcifications and leukodystrophy, resulting in spasticity, ataxia, or dystonia. Gene belongs on multiple panels.
Sources: LiteratureCreated: 4 Nov 2020, 2:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341
- OMIM
- 613128
- Clinvar variants
- Variants in STN1
- Penetrance
- None
- Publications
- Panels with this gene
-
- COVID-19 research
- Polycystic liver disease
- Childhood onset hereditary spastic paraplegia
- Haematological malignancies for rare disease
- Retinal disorders
- Cytopenia - NOT Fanconi anaemia
- White matter disorders and cerebral calcification - narrow panel
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Paediatric disorders - additional genes
- Ductal plate malformation
- DDG2P
- Haematological malignancies cancer susceptibility
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: STN1.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to STN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Sarah Leigh (Genomics England Curator)Tag for-review tag was added to gene: STN1.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: stn1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: STN1 were changed from Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341 to Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: STN1 was added gene: STN1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STN1 were set to 27432940; 32627942 Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341 Review for gene: STN1 was set to GREEN