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| Structural eye disease v3.79 | NUP188 |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: NUP188. Tag Q4_23_NHS_review was removed from gene: NUP188. |
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| Structural eye disease v3.79 | NUP188 | Arina Puzriakova reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.78 | NUP188 |
Arina Puzriakova Source NHS GMS was added to NUP188. Source Expert Review Green was added to NUP188. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v3.52 | NUP188 |
Sarah Leigh 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. |
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| Structural eye disease v3.52 | NUP188 | Sarah Leigh edited their review of gene: NUP188: Added comment: 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.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.52 | NUP188 | Sarah Leigh Classified gene: NUP188 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.52 | NUP188 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.52 | NUP188 | Sarah Leigh Gene: nup188 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.51 | NUP188 | Sarah Leigh Publications for gene: NUP188 were set to 32021605; 32275884 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.4 | NUP188 | Hannah Knight reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: None; Publications: 36158057; Phenotypes: Sandestig-Stefanova syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.33 | NUP188 | Ivone Leong Tag watchlist tag was added to gene: NUP188. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.33 | NUP188 | Ivone Leong Classified gene: NUP188 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.33 | NUP188 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.33 | NUP188 | Ivone Leong Gene: nup188 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.29 | NUP188 | Nicola Ragge reviewed gene: NUP188: Rating: AMBER; Mode of pathogenicity: ; Publications: 32021605, 32275884; Phenotypes: Sandestig-Stefanove Syndrome, AR, MIM:618804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.28 | NUP188 |
Ivone Leong 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 |
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