SEC31A

SEC31 homolog A, COPII coat complex component
OMIM: 610257, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber SEC31A in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.7
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Halperin-Birk syndrome, OMIM:618651
  • neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MONDO:0032849
Tags
  • Q3_26_promote_green
Amber SEC31A in Paediatric disorders - additional genes


Level 2: Developmental disorders
Version 8.14
Latest signed off version: v8.8 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ?Halperin-Birk syndrome, OMIM:618651
    • neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MONDO:0032849
    Tags
    • Q3_26_promote_green
    Amber SEC31A in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.76
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ?Halperin-Birk syndrome, OMIM:618651
    • neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MONDO:0032849
    Amber SEC31A in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • ?Halperin-Birk syndrome, OMIM:618651
    • neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MONDO:0032849