Genomics England
GMS Panels
Panels
Genes and Entities

SIAH1

siah E3 ubiquitin protein ligase 1
OMIM: 602212
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental delay, Infantile hypotonia, Dysmorphic features, Laryngomalacia