Leukodystrophy - paediatric
Gene: GTF2H5
GTF2H5 (general transcription factor IIH subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000272047
EnsemblGeneIds (GRCh37): ENSG00000272047
OMIM: 608780, Gene2Phenotype
GTF2H5 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000272047
EnsemblGeneIds (GRCh37): ENSG00000272047
OMIM: 608780, Gene2Phenotype
GTF2H5 is in 14 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
White matter changes have been reported in association with trichothiodystrophy, but not in association with this subtype condition.
Sources: Expert listCreated: 18 Jan 2020, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy 3, photosensitive 616395
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Phenotypes
-
- Trichothiodystrophy 3, photosensitive 616395
- OMIM
- 608780
- Clinvar variants
- Variants in GTF2H5
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Chromosome Breakage Disorders
- Leukodystrophy - paediatric
- Hair disorders
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- Ichthyosis
- Photosensitivity Syndromes
- BabyScreen+ newborn screening
- Cataract
- Intellectual disability syndromic and non-syndromic
- Growth failure
History Filter Activity
18 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GTF2H5 was added gene: GTF2H5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive 616395 Review for gene: GTF2H5 was set to RED