SEC23B

Sec23 homolog B, coat complex II component
OMIM: 610512
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dyserythropoietic anemia, congenital, type II 224100, COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II 224100
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dyserythropoietic anemia, congenital, type II 224100, COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Green
in Rare anaemia
R-numbers: R92
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II, Congenital Dyserythropoietic Anemia, 224100 Congenital dyserythropoietic anaemia type 2, ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II, Anemia, dyserythropoieticcongenital, type II, 224100, Congenital dyserythropoietic anemia type II