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  3. TFE3
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Pigmentary skin disorders

Gene: TFE3

Green List (high evidence)
TFE3 (transcription factor binding to IGHM enhancer 3)
EnsemblGeneIds (GRCh38): ENSG00000068323
EnsemblGeneIds (GRCh37): ENSG00000068323
OMIM: 314310, Gene2Phenotype
TFE3 is in 4 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

The 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
Created: 9 Mar 2022, 2:35 p.m.
Last Modified: 9 Mar 2022, 2:35 p.m.
Panel version: 1.42

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
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

Created: 21 Oct 2021, 3:35 p.m.

Panel version: 1.16

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 Green
Phenotypes
  • Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, OMIM:301066
OMIM
314310
Clinvar variants
Variants in TFE3
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 3

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating was removed from gene: TFE3. Tag Q4_21_NHS_review was removed from gene: TFE3.

9 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to TFE3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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