Structural eye disease

Gene: NUP188

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 1:56 p.m. | Last Modified: 2 May 2024, 1:56 p.m.

Panel Version: 3.79

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

NUP188 biallelic terminating variants have been associated with Sandestig-Stefanova syndrome (OMIM:618804). PMID: 36158057 describes the first male case of Sandestig-Stefanova syndrome and presents a literature review, that shows that microphthalmia (8/8 cases) and bilateral congenital cataracts (6/8 cases) are commonly reported in patients with biallelic NUP188 variants.

Created: 31 Oct 2023, 10:56 a.m. | Last Modified: 31 Oct 2023, 10:56 a.m.

Panel Version: 3.52

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 31 Oct 2023, 10:37 a.m. | Last Modified: 31 Oct 2023, 10:37 a.m.

Panel Version: 3.52

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

PMID: 36158057 - case report of a boy with a range of features, including microphthalmia. Novel, homozygous nonsense mutation in NUP188 identified

Created: 18 Sep 2023, 12:27 p.m. | Last Modified: 18 Sep 2023, 12:27 p.m.

Panel Version: 3.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sandestig-Stefanova syndrome

Publications

• 36158057

Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). This gene has been promoted from Red to Amber based on available evidence.

Created: 20 Jan 2021, 10:37 a.m. | Last Modified: 20 Jan 2021, 10:37 a.m.

Panel Version: 1.33

I don't know

Sandestig et al: 2 unrelated patients microphthalmia and multiple other features with 2 different homozygous nonsense gene variants, heterozygous in parents. Muir et al reported 6 unrelated individuals with cataract - one has microphthalmia according to supplementary data, but variant is same as in other individuals with just cataract. Borderline green/Amber for structural eye panel, but should be green on cataract panel.

Created: 20 Jan 2021, 10:29 a.m. | Last Modified: 20 Jan 2021, 10:29 a.m.

Panel Version: 1.29

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sandestig-Stefanove Syndrome, AR, MIM:618804

Publications

• 32021605
• 32275884