Hereditary spastic paraplegia - childhood onset

Gene: STN1

Amber List (moderate evidence)

STN1 (STN1, CST complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000107960
EnsemblGeneIds (GRCh37): ENSG00000107960
OMIM: 613128, Gene2Phenotype
STN1 is in 11 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: 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.

There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 30 Nov 2020, 12:19 p.m. | Last Modified: 30 Nov 2020, 12:19 p.m.
Panel Version: 2.21
Comments from 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: Literature
Created: 30 Nov 2020, 12:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341

Publications

History Filter Activity

30 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: stn1 has been classified as Amber List (Moderate Evidence).

30 Nov 2020, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: STN1 was added gene: STN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature for-review tags were added to gene: STN1. 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 OMIM:617341 Review for gene: STN1 was set to GREEN