Retinal disorders
Gene: STN1
The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 2:08 p.m. | Last Modified: 30 Jan 2023, 2:08 p.m.
Panel Version: 3.26
Comment on classification: Four unrelated patients identified with biallelic variants (homozygous or compound heterozygous) have been reported with retinal telangiectasia/ retinal lesions (PMID:27432940, PMID:34110109). I would therefore recommend this gene to be rated GREEN at the next GMS review.Created: 8 Jan 2023, 7:03 p.m. | Last Modified: 8 Jan 2023, 7:04 p.m.
Panel Version: 3.16
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341
Publications
Review submitted on behalf of Robert Henderson, Mr Chien Wong, Mr CK Patel. Publications: Simon, A. J., Lev, A., Zhang, Y., Weiss, B., Rylova, A., Eyal, E., Kol, N., Barel, O., Cesarkas, K., Soudack, M., Greenberg-Kushnir, N., Rhodes, M., and 21 others.Mutations inSTN1cause Coats plus syndrome and are associated with genomic and telomere defects.J. Exp. Med. 213: 1429-1440, 2016; Acharya T, Firth HV, Dugar S, Grammatikopoulos T, Seabra L, Walters A, Crow YJ, Parker APJ. Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome. Mol Genet Genomic Med. 2021 Dec;9(12):e1708.Created: 21 Dec 2022, 4:51 p.m. | Last Modified: 21 Dec 2022, 4:51 p.m.
Panel Version: 3.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coats plus syndrome; cerebroretinal microangiopathy with calcifications and cysts
Tag Q1_23_promote_green was removed from gene: STN1.
Source NHS GMS was added to STN1. Source Expert Review Green was added to STN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_23_promote_green tag was added to gene: STN1.
Phenotypes for gene: STN1 were changed from to Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341
Publications for gene: STN1 were set to
Mode of inheritance for gene: STN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: stn1 has been classified as Amber List (Moderate Evidence).
gene: STN1 was added gene: STN1 was added to Retinal disorders. Sources: Expert list Mode of inheritance for gene: STN1 was set to