Genomics England
GMS Panels
Panels
Genes and Entities

SEC23B

Sec23 homolog B, coat complex II component
OMIM: 610512
PanelMode of inheritanceDetails
5 panels
Green
in Congenital disorders of glycosylation
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 6.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyserythropoietic anemia, congenital, type II, OMIM: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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II 224100
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyserythropoietic anemia, congenital, type II, OMIM:224100
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyserythropoietic anemia, congenital, type II, OMIM: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 3.0
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