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Intellectual disability syndromic and non-syndromic

Gene: STN1

Amber List (moderate evidence)

STN1 (STN1, CST complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000107960
EnsemblGeneIds (GRCh37): ENSG00000107960
OMIM: 613128, Gene2Phenotype
STN1 is in 6 panels

1 review

Sue White (Victorian Clinical Genetics Services)

3 unrelated patients reported with Coats-plus syndrome. Developmental delay noted in two.
Sources: Literature
Created: 2 Nov 2020, 4:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cerebral calcification; premature ageing; bone marrow failure; retinal telangiactasia; hepatic fibrosis

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341
OMIM
613128
Clinvar variants
Variants in STN1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Nov 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STN1 were changed from cerebral calcification; premature ageing; bone marrow failure; retinal telangiactasia; hepatic fibrosis to Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341

2 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

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

2 Nov 2020, Gel status: 1

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

Sue White (Victorian Clinical Genetics Services)

gene: STN1 was added gene: STN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STN1 were set to 32627942; 27432940 Phenotypes for gene: STN1 were set to cerebral calcification; premature ageing; bone marrow failure; retinal telangiactasia; hepatic fibrosis Penetrance for gene: STN1 were set to Complete