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| Pigmentary skin disorders v1.43 | SMARCAL1 |
Arina Puzriakova Tag Q4_21_rating was removed from gene: SMARCAL1. Tag Q4_21_NHS_review was removed from gene: SMARCAL1. |
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| Pigmentary skin disorders v1.42 | SMARCAL1 | Arina Puzriakova commented on gene: SMARCAL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.41 | SMARCAL1 |
Arina Puzriakova Source Expert Review Green was added to SMARCAL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Pigmentary skin disorders v1.37 | SMARCAL1 | Ivone Leong Tag Q4_21_NHS_review tag was added to gene: SMARCAL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.32 | SMARCAL1 | Ivone Leong Tag Q4_21_rating tag was added to gene: SMARCAL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.32 | SMARCAL1 | Ivone Leong Classified gene: SMARCAL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.32 | SMARCAL1 | Ivone Leong Added comment: Comment on list classification: New gene added by Tom Cullup (Great Ormond Street Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (confirmed). There are >3 unrelated cases and PMID:20301550 reports that ~70% of patients have hyperpigmented macules. Therefore, there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.32 | SMARCAL1 | Ivone Leong Gene: smarcal1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.31 | SMARCAL1 | Ivone Leong Publications for gene: SMARCAL1 were set to 11799392 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.30 | SMARCAL1 | Ivone Leong Phenotypes for gene: SMARCAL1 were changed from SCHIMKE IMMUNOOSSEOUS DYSPLASIA to Schimke immunoosseous dysplasia, OMIM:242900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.16 | SMARCAL1 |
Tom Cullup gene: SMARCAL1 was added gene: SMARCAL1 was added to Pigmentary skin disorders. Sources: Other Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMARCAL1 were set to 11799392 Phenotypes for gene: SMARCAL1 were set to SCHIMKE IMMUNOOSSEOUS DYSPLASIA Penetrance for gene: SMARCAL1 were set to Complete Review for gene: SMARCAL1 was set to GREEN Added comment: Sources: Other |
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