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Paediatric disorders - additional genes v7.21 KCTD15 Achchuthan Shanmugasundram Classified gene: KCTD15 as Amber List (moderate evidence)
Paediatric disorders - additional genes v7.21 KCTD15 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated amber as there are only two unrelated families reported with missense variants in KCTD15 and some functional evidence from structural analyses.
Paediatric disorders - additional genes v7.21 KCTD15 Achchuthan Shanmugasundram Gene: kctd15 has been classified as Amber List (Moderate Evidence).
Paediatric disorders - additional genes v7.20 KCTD15 Achchuthan Shanmugasundram Phenotypes for gene: KCTD15 were changed from Lipomatous frontonasal malformation; anosmia; cutis aplasia of the scalp; sparse hair; congenital heart disease to frontonasal dysplasia, MONDO:0016643
Paediatric disorders - additional genes v7.19 KCTD15 Achchuthan Shanmugasundram changed review comment from: PMID:38296633 (2024) reported a two-generation family affected by a distinctive phenotype comprising a lipomatous frontonasal malformation, anosmia, cutis aplasia of the scalp and/or sparse hair, and congenital heart disease. A heterozygous c.310G>C variant encoding p.(Asp104His) within the BTB domain of KCTD15 was identified in the affected father and daughter via exome sequencing and the variant segregated with the phenotype. A de novo heterozygous c.263G>A variant encoding p.(Gly88Asp) was identified via targeted DNA sequencing in a similarly affected sporadic patient.

There is some functional evidence available from structural analyses, which demonstrated that missense substitutions act through a dominant negative mechanism by disrupting the higher order structure of the KCTD15 protein complex.

This gene has not yet been associated with any relevant phenotypes in OMIM or in Gene2Phenotype.; to: PMID:38296633 (2024) reported a two-generation family affected by a distinctive phenotype comprising a lipomatous frontonasal malformation, anosmia, cutis aplasia of the scalp and/or sparse hair, and congenital heart disease. A heterozygous c.310G>C variant encoding p.(Asp104His) within the BTB domain of KCTD15 was identified in the affected father and daughter via exome sequencing and the variant segregated with the phenotype. A de novo heterozygous c.263G>A variant encoding p.(Gly88Asp) was identified via targeted DNA sequencing in a similarly affected sporadic patient.

There is some functional evidence available from structural analyses, which demonstrated that missense substitutions act through a dominant negative mechanism by disrupting the higher order structure of the KCTD15 protein complex.

This gene has not yet been associated with any relevant phenotypes in OMIM (OMIM accessed on 22 October 2025) or in Gene2Phenotype.
Paediatric disorders - additional genes v7.19 KCTD15 Achchuthan Shanmugasundram Publications for gene: KCTD15 were set to PMID: 38296633
Paediatric disorders - additional genes v7.18 KCTD15 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCTD15 was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Paediatric disorders - additional genes v7.17 KCTD15 Achchuthan Shanmugasundram edited their review of gene: KCTD15: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Paediatric disorders - additional genes v7.17 KCTD15 Achchuthan Shanmugasundram Deleted their comment
Paediatric disorders - additional genes v7.17 KCTD15 Achchuthan Shanmugasundram commented on gene: KCTD15: PMID:38296633 (2024) reported a two-generation family affected by a distinctive phenotype comprising a lipomatous frontonasal malformation, anosmia, cutis aplasia of the scalp and/or sparse hair, and congenital heart disease. A heterozygous c.310G>C variant encoding p.(Asp104His) within the BTB domain of KCTD15 was identified in the affected father and daughter via exome sequencing and the variant segregated with the phenotype. A de novo heterozygous c.263G>A variant encoding p.(Gly88Asp) was identified via targeted DNA sequencing in a similarly affected sporadic patient.

There is some functional evidence available from structural analyses, which demonstrated that missense substitutions act through a dominant negative mechanism by disrupting the higher order structure of the KCTD15 protein complex.

This gene has not yet been associated with any relevant phenotypes in OMIM or in Gene2Phenotype.
Paediatric disorders - additional genes v7.17 KCTD15 Achchuthan Shanmugasundram reviewed gene: KCTD15: Rating: AMBER; Mode of pathogenicity: None; Publications: 38296633; Phenotypes: frontonasal dysplasia, MONDO:0016643; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric disorders - additional genes v7.10 KCTD15 Verity Hartill gene: KCTD15 was added
gene: KCTD15 was added to Paediatric disorders - additional genes. Sources: Literature
Mode of inheritance for gene: KCTD15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCTD15 were set to PMID: 38296633
Phenotypes for gene: KCTD15 were set to Lipomatous frontonasal malformation; anosmia; cutis aplasia of the scalp; sparse hair; congenital heart disease
Penetrance for gene: KCTD15 were set to unknown
Mode of pathogenicity for gene: KCTD15 was set to Other
Review for gene: KCTD15 was set to AMBER
Added comment: Sources: Literature