TFAP2A

transcription factor AP-2 alpha
OMIM: 107580
PanelMode of inheritanceDetails
5 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Branchiooculofacial syndrome
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BRANCHIOOCULOFACIAL SYNDROME, BOFS, Cleft lip
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BRANCHIOOCULOFACIAL SYNDROME 113620
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BRANCHIOOCULOFACIAL SYNDROME
R-numbers: R36
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Branchiooculofacial syndrome , 113620, Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620