1. Genes and Genomic Entities
  2. SIAH1

SIAH1

siah E3 ubiquitin protein ligase 1
OMIM: 602212, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red SIAH1 in Genomic imprinting


Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Green SIAH1 in DDG2P


Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SIAH1-associated neurodevelopmental disorder
    Green SIAH1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.550
    Latest signed off version: v5.0 (22 Mar 2023)

    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
    • Literature
    Phenotypes
    • Developmental delay
    • Infantile hypotonia
    • Dysmorphic features
    • Laryngomalacia