KCTD1

potassium channel tetramerization domain containing 1
OMIM: 613420, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber KCTD1 in Ectodermal dysplasia


Level 2: Dermatology
Version 5.15
Latest signed off version: v5.4 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Scalp-ear-nipple syndrome, OMIM:181270
  • scalp-ear-nipple syndrome, MONDO:0008404
  • Dental radicular dysplasia, OMIM:621434
  • dental radicular dysplasia, MONDO:0980763
Tags
  • Q4_26_promote_green
Green KCTD1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.31
Latest signed off version: v8.0 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SCALP-EAR-NIPPLE SYNDROME
Red KCTD1 in DDG2P


Version 8.2
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • SCALP-EAR-NIPPLE SYNDROME
    Red KCTD1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.86
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Scalp-ear-nipple syndrome, 181270