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| Ectodermal dysplasia v4.10 | KDF1 | Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed 20th October 2025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.10 | KDF1 | Eleanor Williams Phenotypes for gene: KDF1 were changed from ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, OMIM:617337; ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, MONDO:0015024 to ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, OMIM:617337; ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, MONDO:0015024 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.9 | KDF1 | Eleanor Williams Classified gene: KDF1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.9 | KDF1 | Eleanor Williams Added comment: Comment on list classification: Promoting to amber but with a recommendation for green rating following GMS review. There are multiple families with variants in this gene and an ectodermal phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.9 | KDF1 | Eleanor Williams Gene: kdf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.8 | KDF1 | Eleanor Williams Added comment: Comment on mode of pathogenicity: There is a proposed mechanism of gain-of-function for the missense variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.8 | KDF1 | Eleanor Williams Mode of pathogenicity for gene: KDF1 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.7 | KDF1 |
Eleanor Williams gene: KDF1 was added gene: KDF1 was added to Ectodermal dysplasia. Sources: Literature Q3_25_promote_green tags were added to gene: KDF1. Mode of inheritance for gene: KDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KDF1 were set to 27838789; 24075906; 30384154; 30977908; 36293320; 37144643; 38501196; 40554824 Phenotypes for gene: KDF1 were set to ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, OMIM:617337; ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, MONDO:0015024 Review for gene: KDF1 was set to GREEN Added comment: There is a provisional association with ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, OMIM:617337 in OMIM but the entry has not been updated since 2017 (accessed 20th October 2025). In ClinGen there is a definitive association with KDF1 - ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type (https://search.clinicalgenome.org/CCID:008901). Numerous cases reported e.g. PMID: 27838789 - Shamseldin et al. 2017 - a multigenerational Saudi family with an autosomal dominant form of hypohidrotic ectodermal dysplasia who had a missense varient in KDF1 (c.753C>A;p.F251L) which segregated with the disease (7 affected, 6 non-affected). Hair, skin and teeth were affected. A mouse knockout of KDF1-/- (PMID: 24075906, 2013) shows an epidermal phenotype. PMID: 30384154 - Zeng et al 2019 - missense variant in KDF1 identified in a family with non-syndromic tooth agenesis. PMID: 30977908 - Manaspon et al 2019 - 5 year old Thai boy with ectodermal dysplasia - sparse hair, absent eyebrows and eyelashes, absence of sweating and dry skin. Using exome and sanger sequencing he was found to have a de novo heterozygous missense variant in KDF1 Further findings of KDF1 missense variants in ectodermal dysplasia patients are reported in PMIDs: 36293320, 37144643, 38501196, 40554824) spanning 2022 to 2025. Sources: Literature |
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