Epidermolysis bullosa
Gene: TUFT1
TUFT1 (tuftelin 1)
EnsemblGeneIds (GRCh38): ENSG00000143367
EnsemblGeneIds (GRCh37): ENSG00000143367
OMIM: 600087, Gene2Phenotype
TUFT1 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000143367
EnsemblGeneIds (GRCh37): ENSG00000143367
OMIM: 600087, Gene2Phenotype
TUFT1 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
9 individuals from three families reported with woolly hair and skin fragility. One of the variants, c.60+1G>A was present in two of the families, founder effect demonstrated by haplotype analysis. Another loss of function variant present in the third family. Some functional data but mostly expression studies.
Sources: Expert ReviewCreated: 5 Jan 2023, 3:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Woolly hair-skin fragility syndrome, MIM# 620415
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Expert Review
- Phenotypes
-
- Woolly hair-skin fragility syndrome, MIM# 620415
- OMIM
- 600087
- Clinvar variants
- Variants in TUFT1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
3 Dec 2024, Gel status: 2
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tuft1 has been classified as Amber List (Moderate Evidence).
3 Dec 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TUFT1 was added gene: TUFT1 was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: TUFT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUFT1 were set to 36689522; 36928819 Phenotypes for gene: TUFT1 were set to Woolly hair-skin fragility syndrome, MIM# 620415