Genomics England

STN1

STN1, CST complex subunit

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341
Green in Cytopenia - NOT Fanconi anaemia R-numbers: R91 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebroretinal microangiopathy with calcifications and cysts 2
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Class: BM failure syndrome (typ AR), Dyskeratosis congenita, MDS, AML, Oral and GI squamous cell carcinoma
Green in Paediatric disorders - additional genes Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341
Green in Retinal disorders R-numbers: R32 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341