SEPHS1

selenophosphate synthetase 1
OMIM: 600902, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber SEPHS1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.10
Latest signed off version: v7.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Ververi-Brady syndrome 2, OMIM:621325
Green SEPHS1 in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • SEPHS1-related neurodevelopmental disorder
    Green SEPHS1 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Ververi-Brady syndrome 2, OMIM:621325
    • Neurodevelopmental disorder, MONDO:0700092