SIAH1

siah E3 ubiquitin protein ligase 1
OMIM: 602212, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber SIAH1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.169
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Buratti-Harel syndrome, OMIM:619314
Green SIAH1 in DDG2P


Version 6.438
Latest signed off version: v6.0 (30 Apr 2025)

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


    Level 2: Developmental disorders
    Version 9.330
    Latest signed off version: v9.0 (30 Apr 2025)

    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