Activity
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| Pigmentary skin disorders v4.3 | SMARCB1 | Eleanor Williams changed review comment from: Comment on list classification: Since cafe-au-lait or other pigmentary changes do not appear to be common in Schwannomatosis-1, or the presenting feature, this gene has been rated amber on this panel.; to: Comment on list classification: Since cafe-au-lait or other pigmentary changes do not appear to be common in Schwannomatosis-1, or the presenting feature, this gene has been rated red on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.3 | SMARCB1 | Eleanor Williams Classified gene: SMARCB1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.3 | SMARCB1 | Eleanor Williams Gene: smarcb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.2 | SMARCB1 | Eleanor Williams Classified gene: SMARCB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.2 | SMARCB1 | Eleanor Williams Added comment: Comment on list classification: Since cafe-au-lait or other pigmentary changes do not appear to be common in Schwannomatosis-1, or the presenting feature, this gene has been rated amber on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.2 | SMARCB1 | Eleanor Williams Gene: smarcb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.1 | SMARCB1 | Eleanor Williams reviewed gene: SMARCB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v3.11 | SMARCB1 |
Dmitrijs Rots gene: SMARCB1 was added gene: SMARCB1 was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCB1 were set to PMID: 32972601 Phenotypes for gene: SMARCB1 were set to Schwannomatosis-1, susceptibility to Penetrance for gene: SMARCB1 were set to Incomplete Review for gene: SMARCB1 was set to GREEN Added comment: Included in the review PMID: 32972601 as differential for cafe-au-lait Sources: Expert Review |
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