EML1

echinoderm microtubule associated protein like 1
OMIM: 602033
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Band heterotopia, OMIM:600348
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Band heterotopia, OMIM:600348
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Band heterotopia, OMIM:600348
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Band heterotopia, OMIM:600348
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 4.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Band heterotopia, OMIM:600348