Structural eye disease
Gene: NUP188
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
PMID: 36158057 - case report of a boy with a range of features, including microphthalmia. Novel, homozygous nonsense mutation in NUP188 identifiedCreated: 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
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
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
Tag watchlist was removed from gene: NUP188. Tag Q4_23_promote_green tag was added to gene: NUP188. Tag Q4_23_NHS_review tag was added to gene: NUP188.
Gene: nup188 has been classified as Amber List (Moderate Evidence).
Publications for gene: NUP188 were set to 32021605; 32275884
Tag watchlist tag was added to gene: NUP188.
Gene: nup188 has been classified as Amber List (Moderate Evidence).
gene: NUP188 was added gene: NUP188 was added to Structural eye disease. Sources: Expert list Mode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP188 were set to 32021605; 32275884 Phenotypes for gene: NUP188 were set to Sandestig-Stefanova syndrome, OMIM:618804, MONDO:0032926