EML1

echinoderm microtubule associated protein like 1
OMIM: 602033
PanelMode of inheritanceDetails
3 panels
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Band heterotopia, 600348
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Band heterotopia, 600348
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital hydrocephalus, profound global developmental delay and intractable epilepsy, Band heterotopia, 600348 (includes severe intellectual disability)