DECR1

2,4-dienoyl-CoA reductase 1
OMIM: 222745, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red DECR1 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • 2,4-DIENOYL-COA REDUCTASE DEFICIENCY