EML1

echinoderm microtubule associated protein like 1
OMIM: 602033
PanelMode of inheritanceDetails
4 panels
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Band heterotopia, OMIM:600348
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Band heterotopia, OMIM:600348
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 3.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Band heterotopia, OMIM:600348
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Band heterotopia, OMIM:600348