GTF2H5

general transcription factor IIH subunit 5
OMIM: 608780, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green GTF2H5 in Cataract Level 2: Ophthalmological disorders Version 0.373	1 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	1 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	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Trichothiodystrophy 3, photosensitive MIM#616395
Green GTF2H5 in Mendeliome Version 1.2302	2 reviews	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	1 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 1.63	2 reviews	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	1 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	0 reviews	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	2 reviews	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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Trichothiodystrophy
Green GTF2H5 in Growth failure Version 1.76	1 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 1.313	1 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 1.1566	1 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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Trichothiodystrophy