1. Genes and Genomic Entities
  2. KPTN

KPTN

kaptin, actin binding protein
OMIM: 615620, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber KPTN in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 41, OMIM:615637
  • macrocephaly-developmental delay syndrome, MONDO:0014289
Amber KPTN in Rare syndromic craniosynostosis or isolated multisuture synostosis


Level 2: Musculoskeletal
Version 6.4
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 41, OMIM:615637
  • craniosynostosis, MONDO:0015469
Green KPTN in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES
    Green KPTN in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.166
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 41, OMIM:615637
    • macrocephaly-developmental delay syndrome, MONDO:0014289
    Green KPTN in Intellectual disability


    Level 2: Developmental disorders
    Version 9.343
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 41, OMIM:615637
    • macrocephaly-developmental delay syndrome, MONDO:0014289