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Intellectual disability syndromic and non-syndromic

Gene: GTF2H5

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DD/ID are a feature.
Created: 14 Nov 2024, 5:53 a.m. | Last Modified: 14 Nov 2024, 5:53 a.m.
Panel Version: 0.6746

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichothiodystrophy 3, photosensitive MIM#616395

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

GTF2H5 is associated with a rare autosomal recessive disorder in which patients have various phenotypes including cutaneous abnormalities and intellectual disability.
Created: 17 Sep 2024, 6:29 a.m. | Last Modified: 17 Sep 2024, 6:29 a.m.
Panel Version: 0.6222

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichothiodystrophy 3, photosensitive MIM#616395

Publications

History Filter Activity

14 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gtf2h5 has been classified as Green List (High Evidence).

14 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GTF2H5 were changed from to Trichothiodystrophy 3, photosensitive MIM#616395

14 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GTF2H5 were set to

14 Nov 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GTF2H5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GTF2H5 was added gene: GTF2H5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GTF2H5 was set to Unknown