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  2. Ectodermal Dysplasia
  3. TUFT1
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Ectodermal Dysplasia

Gene: TUFT1

Amber List (moderate evidence)
TUFT1 (tuftelin 1)
EnsemblGeneIds (GRCh38): ENSG00000143367
EnsemblGeneIds (GRCh37): ENSG00000143367
OMIM: 600087, Gene2Phenotype
TUFT1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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 Review
Created: 5 Jan 2023, 3:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Woolly hair-skin fragility syndrome, MIM# 620415

Publications

Created: 5 Jan 2023, 3:10 a.m.

Panel version: 0.82

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • 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

15 Jun 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUFT1 were set to https://doi.org/10.1093/bjd/ljac026

15 Jun 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUFT1 were changed from Ectodermal dysplasia, MONDO:0019287, TUFT1-related to Woolly hair-skin fragility syndrome, MIM# 620415

5 Jan 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tuft1 has been classified as Amber List (Moderate Evidence).

5 Jan 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tuft1 has been classified as Amber List (Moderate Evidence).

5 Jan 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUFT1 was added gene: TUFT1 was added to Ectodermal Dysplasia. Sources: Expert Review Mode of inheritance for gene: TUFT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUFT1 were set to https://doi.org/10.1093/bjd/ljac026 Phenotypes for gene: TUFT1 were set to Ectodermal dysplasia, MONDO:0019287, TUFT1-related Review for gene: TUFT1 was set to AMBER