SEC24D

SEC24 homolog D, COPII coat complex component
OMIM: 607186, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Amber SEC24D in Hydrocephalus


Level 2: Neurology
Version 5.8
Latest signed off version: v5.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Cole-Carpenter syndrome 2, OMIM:616294
Tags
  • watchlist
Green SEC24D in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Literature
    • Expert Review
    • Expert Review Green
    Phenotypes
    • Osteogenesis Imperfecta, Cole Carpenter syndrome
    • Cole-Carpenter syndrome
    • SYNDROMIC OSTEOGENESIS IMPERFECTA
    Green SEC24D in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • SYNDROMIC OSTEOGENESIS IMPERFECTA
    Amber SEC24D in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.3
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Cole-Carpenter syndrome 2 616294
    Green SEC24D in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.4
    Latest signed off version: v5.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    • Expert Review
    Phenotypes
    • Cole-Carpenter syndrome
    • Osteogenesis Imperfecta, Cole Carpenter syndrome
    • SYNDROMIC OSTEOGENESIS IMPERFECTA
    Green SEC24D in DDG2P


    Version 6.424
    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
    • SYNDROMIC OSTEOGENESIS IMPERFECTA
    Red SEC24D in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    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
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Red
    • Literature
    Phenotypes
    • Intellectual disability and epilepsy