Genomics England
GMS Panels
Panels
Genes and Entities

MECOM

MDS1 and EVI1 complex locus
OMIM: 165215
PanelMode of inheritanceDetails
6 panels
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738, 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738, Hypocellular bone marrow, congenital thrombocytopenia, B-cell lymphopenia, hypogammaglobulinemia, radioulnar synostosis, digit abnormalities, clubfoot, cardiac defects, facial dysmorphism