Genomics England
GMS Panels
Panels
Genes and Entities

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 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Roberts-SC phocomelia syndrome, OMIM:268300, Roberts-SC phocomelia syndrome, MONDO:0100253
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SC PHOCOMELIA SYNDROME 269000, ROBERTS SYNDROME 268300
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SC PHOCOMELIA SYNDROME, ROBERTS SYNDROME
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Roberts syndrome, 268300SC phocomelia syndrome, 269000, SC PHOCOMELIA SYNDROME (SCPS)
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
absence of radii, SC phocomelia syndrome, 269000, Roberts syndrome, 268300, radial aplasia
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SC phocomelia syndrome 269000, Roberts syndrome 268300
Green
in Structural eye disease
R-numbers: R36
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SC Phocomelia Syndrome, 269000