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Ichthyosis

Gene: GTF2H5

Amber List (moderate evidence)
GTF2H5 (general transcription factor IIH subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000272047
EnsemblGeneIds (GRCh37): ENSG00000272047
OMIM: 608780, Gene2Phenotype
GTF2H5 is in 14 panels

2 reviews

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- PMID: 37356817: A newborn homozygous for a GTF2H5 nonsense variant with congenital ichthyosis, complex posterior cranial fossa anomaly, life-threatening infections and bilateral cryptorchidism. This individual also had a complex cardiac malformation.
Created: 20 Nov 2024, 1:24 a.m. | Last Modified: 20 Nov 2024, 1:24 a.m.
Panel Version: 1.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichothiodystrophy 3, photosensitive, MIM# 616395

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Nov 2024, 1:24 a.m.
Last Modified: 20 Nov 2024, 1:24 a.m.
Panel version: 1.11

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Congenital ichthyosis has been reported as a feature of this condition in two cases with biallelic variants in this gene.
Sources: Literature
Created: 31 Jan 2020, 10:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichothiodystrophy 3, photosensitive MIM#616395

Publications

Created: 31 Jan 2020, 10:47 a.m.

Panel version: 0.38

History Filter Activity

31 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gtf2h5 has been classified as Amber List (Moderate Evidence).

31 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gtf2h5 has been classified as Amber List (Moderate Evidence).

31 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GTF2H5 was added gene: GTF2H5 was added to Ichthyosis. Sources: Literature Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2H5 were set to 30359777; 24986372 Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive MIM#616395 Review for gene: GTF2H5 was set to AMBER