Activity
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| Ectodermal dysplasia v4.17 | TUFT1 | Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: TUFT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.17 | TUFT1 | Ida Ertmanska Phenotypes for gene: TUFT1 were changed from ectodermal dysplasia syndrome, MONDO:0019287 to Woolly hair-skin fragility syndrome, OMIM:620415 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.16 | TUFT1 | Ida Ertmanska Publications for gene: TUFT1 were set to 36689522 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.15 | TUFT1 | Ida Ertmanska changed review comment from: Comment on list classification: As there are now 11 individuals from 4 unrelated families reported in literature (including 2 families with the same founder variant), there is enough evidence to promote TUFT1 to Green for Ectodermal dysplasia at the next GMS update. This association is supported by a knockout mouse model that recapitulates the human phenotype.; to: Comment on list classification: As there are now 11 individuals from 4 unrelated families reported in literature (including 2 families with the same founder variant), there is enough evidence to promote TUFT1 to Green for Ectodermal dysplasia at the next GMS update. This association is supported by a knockout mouse model that recapitulates the human phenotype (PMID: 37716648). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.15 | TUFT1 | Ida Ertmanska commented on gene: TUFT1: Comment on list classification: As there are now 11 individuals from 4 unrelated families reported in literature (including 2 families with the same founder variant), there is enough evidence to promote TUFT1 to Green for Ectodermal dysplasia at the next GMS update. This association is supported by a knockout mouse model that recapitulates the human phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.15 | TUFT1 |
Ida Ertmanska changed review comment from: PMID: 36689522 Jackson et al., 2023 Report of 9 individuals from 3 families with woolly hair and skin fragility, homozygous for either c.60+1G>A (Irish founder variant) or p.Gln189Asnfs*49. No dental abnormalities. PMID: 37716648 Verkerk et al., 2024 Report of two Dutch siblings with mild skin fragility, woolly hair, and mild palmoplantar keratoderma. Both sibs harboured a homozygous splice-site variant in the TUFT1 gene. The teeth were all present and had a normal appearance, though susceptibility to caries was noted. A Tuft1-knockout mouse model mimicked the patients' phenotypes: KO mice showed abnormal fur with a wavy appearance mimicking the woolly hair phenotype; 40% of KO mice developed spontaneous skin erosions. This gene is associated with AR Woolly hair-skin fragility syndrome, OMIM:620415 (accessed 7th Nov 2025).; to: PMID: 36689522 Jackson et al., 2023 Report of 9 individuals from 3 families with woolly hair and skin fragility, homozygous for either c.60+1G>A (Irish founder variant) or p.Gln189Asnfs*49. No dental abnormalities. PMID: 37716648 Verkerk et al., 2024 Report of two Dutch siblings with mild skin fragility, woolly hair, and mild palmoplantar keratoderma. Both sibs harboured a homozygous splice-site variant in the TUFT1 gene. The teeth were all present and had a normal appearance, though susceptibility to caries was noted. WES identified a homozygous splice acceptor site variant in intron 8, c.724-2A>G in TUFT1. A Tuft1-knockout mouse model mimicked the patients' phenotypes: KO mice showed abnormal fur with a wavy appearance mimicking the woolly hair phenotype; 40% of KO mice developed spontaneous skin erosions. This gene is associated with AR Woolly hair-skin fragility syndrome, OMIM:620415 (accessed 7th Nov 2025). |
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| Ectodermal dysplasia v4.15 | TUFT1 | Ida Ertmanska edited their review of gene: TUFT1: Changed rating: GREEN; Changed publications to: 36689522, 37716648; Changed phenotypes to: Woolly hair-skin fragility syndrome, OMIM:620415; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.15 | TUFT1 | Ida Ertmanska commented on gene: TUFT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v3.3 | TUFT1 | Achchuthan Shanmugasundram Classified gene: TUFT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v3.3 | TUFT1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER despite having three unrelated cases, as the variant found in two families is a founder variant in the Irish population. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v3.3 | TUFT1 | Achchuthan Shanmugasundram Gene: tuft1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v3.2 | TUFT1 |
Achchuthan Shanmugasundram gene: TUFT1 was added gene: TUFT1 was added to Ectodermal dysplasia. Sources: Literature Mode of inheritance for gene: TUFT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUFT1 were set to 36689522 Phenotypes for gene: TUFT1 were set to ectodermal dysplasia syndrome, MONDO:0019287 Review for gene: TUFT1 was set to AMBER Added comment: PMID:36689522 reported nine individuals from three different families with biallelic variants in TUFT1 gene and presenting with woolly hair and skin fragility. One donor splice-site variant, c.60+1G>A, was present in two families, while a frameshift variant, p.Gln189Asnfs*49, was found in the third family. Haplotype analysis showed the c.60+1G>A variant is a founder variant in the Irish population. This is also supported by functional studies, mainly expression studies. This gene has not yet been associated with any phenotypes in OMIM or in Gene2Phenotype. Sources: Literature |
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