Retinal disorders

Gene: STN1

Green List (high evidence)

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

• 27432940
• 34110109

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