NEDD4L

neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
OMIM: 606384
PanelMode of inheritanceDetails
6 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cleft palate, toe syndactyly, periventricular nodular heterotopia, Periventricular nodular heterotopia 7 (includes clefting), 617201, Cleft palate
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Periventricular nodular heterotopia 7, OMIM:617201, periventricular nodular heterotopia 7, MONDO:0014966
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Periventricular nodular heterotopia 7, OMIM:617201, Periventricular nodular heterotopia 7, MONDO:0014966
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Periventricular nodular heterotopia 7, 617201
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Periventricular nodular heterotopia 7 617201