CLTC

clathrin heavy chain
OMIM: 118955, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green CLTC in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.11
Latest signed off version: v7.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mental retardation, autosomal dominant 56, OMIM:617854
  • Fetal akinesia
  • Fetal growth restriction
Green CLTC in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Overgrowth intellectual disability
    • Epilepsy and intellectual disability
    Green CLTC in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.8
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Other
    • Expert Review Green
    • Expert Review Green
    • Other
    Phenotypes
    • Mental retardation, autosomal dominant 56, OMIM:617854
    Green CLTC in Intellectual disability


    Level 2: Developmental disorders
    Version 10.18
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Other
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Mental retardation, autosomal dominant 56, OMIM:617854