SIAH1

siah E3 ubiquitin protein ligase 1
OMIM: 602212, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green SIAH1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Buratti-Harel syndrome, MIM# 619314
  • Developmental delay
  • Infantile hypotonia
  • Dysmorphic features
  • Laryngomalacia

Green SIAH1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Buratti-Harel syndrome, MIM# 619314
  • Developmental delay
  • Infantile hypotonia
  • Dysmorphic features
  • Laryngomalacia