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| 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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