ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2
OMIM: 609353
PanelMode of inheritanceDetails
7 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ROBERTS SYNDROME, RBS, SC PHOCOMELIA SYNDROME
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SC PHOCOMELIA SYNDROME 269000, ROBERTS SYNDROME 268300
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SC PHOCOMELIA SYNDROME, ROBERTS SYNDROME
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Roberts syndrome, 268300SC phocomelia syndrome, 269000, SC PHOCOMELIA SYNDROME (SCPS)
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
absence of radii, SC phocomelia syndrome, 269000, Roberts syndrome, 268300, radial aplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SC phocomelia syndrome 269000, Roberts syndrome 268300
R-numbers: R36
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SC Phocomelia Syndrome, 269000