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  3. GTF2E2
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Chromosome Breakage Disorders

Gene: GTF2E2

Amber List (moderate evidence)
GTF2E2 (general transcription factor IIE subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000197265
EnsemblGeneIds (GRCh37): ENSG00000197265
OMIM: 189964, Gene2Phenotype
GTF2E2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families and some functional data.
Created: 22 Apr 2021, 11:18 a.m. | Last Modified: 22 Apr 2021, 11:18 a.m.
Panel Version: 0.118

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichothiodystrophy 6, nonphotosensitive, MIM# 616943

Publications

Created: 22 Apr 2021, 11:18 a.m.
Last Modified: 22 Apr 2021, 11:18 a.m.
Panel version: 0.118

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 6, nonphotosensitive, MIM# 616943
  • MONDO:0014841
OMIM
189964
Clinvar variants
Variants in GTF2E2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Apr 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GTF2E2 were changed from Trichothiodystrophy 6, nonphotosensitive, MIM# 616943 to Trichothiodystrophy 6, nonphotosensitive, MIM# 616943; MONDO:0014841

22 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).

22 Apr 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GTF2E2 were changed from to Trichothiodystrophy 6, nonphotosensitive, MIM# 616943

22 Apr 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GTF2E2 were set to

22 Apr 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GTF2E2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GTF2E2 was added gene: GTF2E2 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GTF2E2 was set to Unknown