FAT4

FAT atypical cadherin 4
OMIM: 612411
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PERIVENTRICULAR NEURONAL HETEROTOPIA, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 616006, VAN MALDERGEM SYNDROME 615546
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PERIVENTRICULAR NEURONAL HETEROTOPIA
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
PERIVENTRICULAR NEURONAL HETEROTOPIA
R-numbers: R331
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hennekam lymphangiectasia-lymphedema syndrome 2, OMIM:616006
R-numbers: R15
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hennekam lymphangiectasia-lymphedema syndrome 2, 616006, Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features, Combined immunodeficiencies with associated or syndromic features
R-numbers: R136
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hennekam lymphangiectasia-lymphedema syndrome 2, 616006, Van Maldergem syndrome 2, 615546