| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Bilateral congenital or childhood onset cataracts v2.98 | NUP188 | Ivone Leong Tag for-review was removed from gene: NUP188. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.98 | NUP188 | Ivone Leong commented on gene: NUP188 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.97 | NUP188 |
Ivone Leong Source Expert Review Green was added to NUP188. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.58 | NUP188 | Nicola Ragge reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: ; Publications: 32021605, 32275884; Phenotypes: Sandestig-Stefanove Syndrome, AR, MIM:618804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.15 | NUP188 | Arina Puzriakova Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract; structural brain abnormalities; hypoventilation to Sandestig-Stefanova syndrome, 618804 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.14 | NUP188 | Arina Puzriakova Classified gene: NUP188 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.14 | NUP188 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next major review - congenital cataract reported in at least 6 affected individuals (5 unrelated kindreds) due to biallelic truncating variants in NUP188. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.14 | NUP188 | Arina Puzriakova Gene: nup188 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.13 | NUP188 | Arina Puzriakova Tag for-review tag was added to gene: NUP188. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.13 | NUP188 | Arina Puzriakova reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: None; Publications: 32021605, 32275884; Phenotypes: Sandestig-Stefanova syndrome, 618804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.6 | NUP188 |
Zornitza Stark gene: NUP188 was added gene: NUP188 was added to Cataracts. Sources: Expert list Mode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP188 were set to 32021605; 28726809; 32275884 Phenotypes for gene: NUP188 were set to microcephaly; ID; cataract; structural brain abnormalities; hypoventilation Review for gene: NUP188 was set to GREEN gene: NUP188 was marked as current diagnostic Added comment: 8 unrelated individuals reported with bi-allelic variants and a neurodevelopmental phenotype with cataracts. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||