Bone Marrow Failure

Gene: STN1

Green List (high evidence)

3 unrelated patients with biallelic variants in STN1 and Coats-plus syndrome
in 32627942, one variant nonsense and the other missense. No functional work in this paper but protein modelling suggests missense is destabilising protein structure. Good phenotype match with prior reports which had animal model with similar phenotype

Created: 2 Nov 2020, 4:31 a.m. | Last Modified: 2 Nov 2020, 4:31 a.m.

Panel Version: 0.167

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coats-plus syndrome; intracranial calcification; retinal telangiactasia; bone marrow failure

Publications

• 32627942

I don't know

Comment when marking as ready: Promoted to Green, highly specific constellation of features.

Created: 2 Nov 2020, 4:39 a.m. | Last Modified: 2 Nov 2020, 4:39 a.m.

Panel Version: 0.168

Two unrelated individuals reported with a multisystem disorder characterised by premature ageing, pancytopaenia, hypocellular bone marrow, osteopaenia, liver fibrosis, vascular telangiectasia, intracranial calcifications and leukodystrophy.
Sources: Expert list

Created: 14 Jan 2020, 11:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341

Publications

• 27432940