SEPHS1

selenophosphate synthetase 1
OMIM: 600902, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber SEPHS1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092
    Tags
    • Q2_24_promote_green