SEC23A

Sec23 homolog A, coat complex II component
OMIM: 610511, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber SEC23A in Cataract


Level 2: Ophthalmological disorders
Version 0.631

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Craniolenticulosutural dysplasia, MIM# 607812

Red SEC23A in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.83

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Craniolenticulosutural dysplasia (MIM# 607812)

    Amber SEC23A in Mendeliome


    Version 1.4541

    2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Craniolenticulosutural dysplasia (MIM# 607812)

    Green SEC23A in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Craniolenticulosutural dysplasia, 607812 (3)

    Amber SEC23A in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.312

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • CLSD
    • CRANIOLENTICULOSUTURAL DYSPLASIA

    Red SEC23A in Prepair 1000+


    Level 2: Screening
    Version 2.15

    3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Mackenzie's Mission
    Phenotypes
    • Craniolenticulosutural dysplasia (MIM# 607812)