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| Amelogenesis imperfecta v4.19 | 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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| Amelogenesis imperfecta v4.19 | TUFT1 | Ida Ertmanska Phenotypes for gene: TUFT1 were changed from amelogenesis imperfecta to Woolly hair-skin fragility syndrome, OMIM:620415 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.18 | TUFT1 | Ida Ertmanska Publications for gene: TUFT1 were set to 7919663 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.17 | TUFT1 | Ida Ertmanska Mode of inheritance for gene: TUFT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.16 | TUFT1 | Ida Ertmanska edited their review of gene: TUFT1: Added comment: Comment on list classification: As reviewed by Claire Smith, variants in TUFT1 are not associates with dental abnormalities. Instead, 11 individuals from 4 families with biallelic variants in TUFT1 presented with woolly hair and skin fragility. Based on the available evidence, TUFT1 should remain Red for Amelogenesis imperfecta.; Changed phenotypes to: Woolly hair-skin fragility syndrome, OMIM:620415 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.16 | 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. A Tuft1-knockout mouse model mimicked the patients' phenotypes. The teeth were all present and had a normal appearance, though susceptibility to caries was noted. 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. 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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| Amelogenesis imperfecta v4.16 | TUFT1 | Ida Ertmanska reviewed gene: TUFT1: Rating: ; Mode of pathogenicity: None; Publications: 25531160, 36689522, 37716648; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.5 | TUFT1 | Claire Smith reviewed gene: TUFT1: Rating: RED; Mode of pathogenicity: None; Publications: 36689522; Phenotypes: woolly hair, skin fragility, keratosis pilaris; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta | TUFT1 | Sarah Leigh reviewed TUFT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||