STN1

Green STN1 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.16

Sources

• Expert Review Green
• Curated sources
• Expert Review Green

Phenotypes

• Class: BM failure syndrome (typ AR)
• Dyskeratosis congenita
• MDS, AML
• Oral and GI squamous cell carcinoma

Green STN1 in COVID-19 research

Level 2: Viral research
Version 1.141

Sources

• Expert Review Green
• IUIS Classification December 2019
• IUIS Classification February 2018
• IUIS Classification December 2019
• IUIS Classification February 2018

Phenotypes

• Combined immunodeficiencies with associated or syndromic features
• Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, gastrointestinal hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres
• Bone marrow failure

Green STN1 in White matter disorders and cerebral calcification - narrow panel

Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Literature

Phenotypes

• Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341

Amber STN1 in Ductal plate malformation

Version 1.29

Sources

• NHS GMS
• Expert Review Amber
• Expert list

Phenotypes

• Cerebroretinal microangiopathy with calcifications and cysts 2 (617341)

Amber STN1 in Polycystic liver disease

Version 1.31
Latest signed off version: v1.26 (22 Mar 2023)

Sources

• Expert Review Amber
• NHS GMS
• NHS GMS
• Expert list

Phenotypes

• Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341

Red STN1 in Primary immunodeficiency or monogenic inflammatory bowel disease

Version 4.201
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• IUIS Classification December 2019
• IUIS Classification February 2018

Phenotypes

• Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, gastrointestinal hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres
• Bone marrow failure
• Combined immunodeficiencies with associated or syndromic features

Green STN1 in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Green
• Curated sources

Phenotypes

• Class: BM failure syndrome (typ AR)
• Dyskeratosis congenita
• MDS, AML
• Oral and GI squamous cell carcinoma

Green STN1 in Childhood onset hereditary spastic paraplegia

Version 4.42
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Green
• Literature

Phenotypes

• Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341

Green STN1 in Cytopenia - NOT Fanconi anaemia

Version 3.32
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• Literature

Phenotypes

• Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341

Green STN1 in DDG2P

Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• DD-Gene2Phenotype

Phenotypes

• Cerebroretinal microangiopathy with calcifications and cysts 2

Green STN1 in Paediatric disorders - additional genes

Version 3.9
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Literature

Phenotypes

• Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341

Green STN1 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.89
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Green
• NHS GMS
• Expert list

Phenotypes

• Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341