Pigmentary skin disorders

Gene: TFE3

Amber List (moderate evidence)

TFE3 (transcription factor binding to IGHM enhancer 3)
EnsemblGeneIds (GRCh38): ENSG00000068323
EnsemblGeneIds (GRCh37): ENSG00000068323
OMIM: 314310, Gene2Phenotype
TFE3 is in 3 panels

2 reviews

Ivone Leong (Genomics England Curator)

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

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Sources: Expert list
Created: 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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, OMIM:301066
Tags
Q4_21_rating Q4_21_NHS_review
OMIM
314310
Clinvar variants
Variants in TFE3
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

30 Nov 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_NHS_review tag was added to gene: TFE3.

30 Nov 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: TFE3.

30 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tfe3 has been classified as Amber List (Moderate Evidence).

30 Nov 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

21 Oct 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Tom Cullup (Great Ormond Street Hospital)

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