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 8.1
Latest signed off version: v8.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Craniolenticulosutural dysplasia
  • Cranio-lenticulo-sutural dysplasia
Red SEC23A in DDG2P


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

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 7.3
    Latest signed off version: v7.0 (6 May 2026)

    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 5.5
    Latest signed off version: v5.0 (6 May 2026)

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