Pigmentary skin disorders
Gene: TFE3The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 2:35 p.m. | Last Modified: 9 Mar 2022, 2:35 p.m.
Panel Version: 1.42
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.Created: 30 Nov 2021, 1:12 p.m. | Last Modified: 30 Nov 2021, 1:12 p.m.
Panel Version: 1.34
Sources: Expert listCreated: 21 Oct 2021, 3:35 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Intellectual disability with pigmentary mosaicism and storage disorder-like features
Publications
Tag Q4_21_rating was removed from gene: TFE3. Tag Q4_21_NHS_review was removed from gene: TFE3.
Source Expert Review Green was added to TFE3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_21_NHS_review tag was added to gene: TFE3.
Tag Q4_21_rating tag was added to gene: TFE3.
Gene: tfe3 has been classified as Amber List (Moderate Evidence).
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
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