PanelApp
  1. Genes and Genomic Entities
  2. SEC31A

SEC31A

SEC31 homolog A, COPII coat complex component
OMIM: 610257, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber SEC31A in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 1.8

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Halperin-Birk syndrome, MIM# 618651

    Amber SEC31A in Mendeliome


    Version 1.4044

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Expert Review Amber
    • Literature
    Phenotypes
    • Halperin-Birk syndrome, MIM# 618651

    Amber SEC31A in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.393

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Expert Review Amber
    • Literature
    Phenotypes
    • Halperin-Birk syndrome, MIM# 618651

    Amber SEC31A in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.336

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Halperin-Birk syndrome, MIM# 618651

    Amber SEC31A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.565

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Expert Review Amber
    • Literature
    Phenotypes
    • Halperin-Birk syndrome, MIM# 618651

    Amber SEC31A in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.135

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651
    • congenital neurodevelopmental syndrome
    • spastic paraplegia
    • multiple contractures
    • profound developmental delay
    • epilepsy
    • failure to thrive