| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mosaic skin disorders - deep sequencing v2.17 | NEK9 | Arina Puzriakova Tag somatic tag was added to gene: NEK9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.17 | NEK9 | Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update. At least five unrelated individuals reported with nevus comedonicus due to somatic mosaic variants in the NEK9 gene. Two individuals had other syndromic features - congenital cataract was the only common finding present in both cases.; to: Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update. At least five unrelated individuals reported with nevus comedonicus due to somatic mosaic variants in the NEK9 gene. Two individuals had other syndromic features - congenital cataract was the only common finding present in both cases (PMIDs: 27153399; 34184242; 31961058) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.17 | NEK9 | Arina Puzriakova Publications for gene: NEK9 were set to PMID: 27153399; 34184242; 33481271 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.16 | NEK9 | Arina Puzriakova Classified gene: NEK9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.16 | NEK9 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update. At least five unrelated individuals reported with nevus comedonicus due to somatic mosaic variants in the NEK9 gene. Two individuals had other syndromic features - congenital cataract was the only common finding present in both cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.16 | NEK9 | Arina Puzriakova Gene: nek9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.15 | NEK9 |
Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: NEK9. Tag Q3_23_NHS_review tag was added to gene: NEK9. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.15 | NEK9 | Arina Puzriakova Phenotypes for gene: NEK9 were changed from nevus comedonicus (NC) (MIM: 617025) to Nevus comedonicus, somatic, OMIM:617025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.1 | NEK9 |
Tom Cullup gene: NEK9 was added gene: NEK9 was added to Mosaic skin disorders - deep sequencing. Sources: Expert list Mode of inheritance for gene: NEK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NEK9 were set to PMID: 27153399; 34184242; 33481271 Phenotypes for gene: NEK9 were set to nevus comedonicus (NC) (MIM: 617025) Penetrance for gene: NEK9 were set to unknown Mode of pathogenicity for gene: NEK9 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: NEK9 was set to GREEN Added comment: Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||