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 8.0
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 DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II 224100
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
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 9.0
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyserythropoietic anemia, congenital, type II, OMIM:224100