GTF2H5

general transcription factor IIH subunit 5
OMIM: 608780, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green GTF2H5 in Cataract Level 2: Ophthalmological disorders Version 0.373	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Trichothiodystrophy 3, photosensitive (MIM# 616395)
Green GTF2H5 in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.21	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Trichothiodystrophy 3, photosensitive, MIM# 616395 MONDO:0014619
Amber GTF2H5 in Ichthyosis Level 2: Dermatological disorders Version 1.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Trichothiodystrophy 3, photosensitive MIM#616395
Green GTF2H5 in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Trichothiodystrophy 3, photosensitive, MIM# 616395 MONDO:0014619
Green GTF2H5 in Photosensitivity Syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.8	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Trichothiodystrophy 3, photosensitive, MIM# 616395
Green GTF2H5 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Trichothiodystrophy 3, photosensitive MIM#616395
Red GTF2H5 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.318 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Trichothiodystrophy 3, photosensitive 616395
Green GTF2H5 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Trichothiodystrophy 3, photosensitive, 616395 (3)
Green GTF2H5 in Hair disorders Level 2: Dermatological disorders Version 0.71	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Trichothiodystrophy 3, photosensitive, 616395
Red GTF2H5 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Trichothiodystrophy
Green GTF2H5 in Growth failure Version 1.76	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Trichothiodystrophy 3, photosensitive, MIM# 616395 MONDO:0014619
Green GTF2H5 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Trichothiodystrophy 3, photosensitive (MIM# 616395)
Green GTF2H5 in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Trichothiodystrophy 3, photosensitive, MIM# 616395
Red GTF2H5 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Trichothiodystrophy