SEC23B

Sec23 homolog B, coat complex II component
OMIM: 610512, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green SEC23B in Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.5

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cowden syndrome 7 616858

Green SEC23B in Congenital disorders of glycosylation

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 2.71
Latest signed off version: v2.4 (4 Mar 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Literature
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • Dyserythropoietic anemia, congenital, type II 224100
    • COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)

    Green SEC23B in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.87

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Emory Genetics Laboratory
    Phenotypes
    • Congenital dyserythropoietic anemia type II
    • Congenital Dyserythropoietic Anemia
    • Anemia, dyserythropoieticcongenital, type II, 224100
    • ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II

    Green SEC23B in Rare anaemia


    Version 1.24
    Latest signed off version: v1.2 (3 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
    • Congenital Dyserythropoietic Anemia
    • 224100 Congenital dyserythropoietic anaemia type 2
    • ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
    • Anemia, dyserythropoieticcongenital, type II, 224100
    • Congenital dyserythropoietic anemia type II

    Red SEC23B in Iron metabolism disorders


    Version 1.33
    Latest signed off version: v1.2 (3 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Dyserythropoietic anemia, congenital, type II OMIM:224100
    • congenital dyserythropoietic anemia type 2 MONDO:0009134

    Green SEC23B in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.469

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
    • Dyserythropoietic anemia, congenital, type II 224100

    Green SEC23B in Inborn errors of metabolism


    Version 2.154
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Dyserythropoietic anemia, congenital, type II 224100
    • COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)

    Green SEC23B in Fetal anomalies


    Version 1.698
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II

    Green SEC23B in DDG2P


    Version 2.39
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II 224100

    Red SEC23B in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1212
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Dyserythropoietic anemia, congenital, type II, 224100

    Red SEC23B in Childhood onset dystonia or chorea or related movement disorder


    Version 1.137
    Latest signed off version: v1.58 (6 Oct 2020)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green SEC23B in Severe Paediatric Disorders


    Version 1.81

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Cowden syndrome 7, 616858
    • Dyserythropoietic anemia, congenital, type II, 224100