TCF4

transcription factor 4
OMIM: 602272
PanelMode of inheritanceDetails
5 panels
R-numbers: R262
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Corneal dystrophy, Fuchs endothelial, 3, 613267
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PITT-HOPKINS SYNDROME 610954
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PITT-HOPKINS SYNDROME
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pitt-Hopkins syndrome 610954
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pitt-Hopkins syndrome, 610954, PITT-HOPKINS SYNDROME (PTHS)