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| Pigmentary skin disorders v1.43 | TFE3 |
Arina Puzriakova Tag Q4_21_rating was removed from gene: TFE3. Tag Q4_21_NHS_review was removed from gene: TFE3. |
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| Pigmentary skin disorders v1.42 | TFE3 | Arina Puzriakova commented on gene: TFE3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.41 | TFE3 |
Arina Puzriakova Source Expert Review Green was added to TFE3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Pigmentary skin disorders v1.37 | TFE3 | Ivone Leong Tag Q4_21_NHS_review tag was added to gene: TFE3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.34 | TFE3 | Ivone Leong Tag Q4_21_rating tag was added to gene: TFE3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.34 | TFE3 | Ivone Leong Classified gene: TFE3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.34 | TFE3 | 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 is enough evidence to support a gene-disease association (12/17 patients have skin pigmentation abnormalities), this gene should be Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.34 | TFE3 | Ivone Leong Gene: tfe3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.33 | TFE3 | Ivone Leong Phenotypes for gene: TFE3 were changed from Intellectual disability with pigmentary mosaicism and storage disorder-like features to Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, OMIM:301066 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.16 | TFE3 |
Tom Cullup gene: TFE3 was added gene: TFE3 was added to Pigmentary skin disorders. Sources: Expert list Mode of inheritance for gene: TFE3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TFE3 were set to 32409512 Phenotypes for gene: TFE3 were set to Intellectual disability with pigmentary mosaicism and storage disorder-like features Penetrance for gene: TFE3 were set to unknown Review for gene: TFE3 was set to GREEN Added comment: Sources: Expert list |
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