SEC23A

Sec23 homolog A, coat complex II component
OMIM: 610511, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red SEC23A in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.6
Latest signed off version: v7.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Craniolenticulosutural dysplasia
  • Cranio-lenticulo-sutural dysplasia
Red SEC23A 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
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • CRANIOLENTICULOSUTURAL DYSPLASIA 607812
    Amber SEC23A in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • CRANIOLENTICULOSUTURAL DYSPLASIA
    • CLSD
    Red SEC23A in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Craniolenticulosutural dysplasia, 607812