Genomics England
GMS Panels
Panels
Genes and Entities

JAGN1

jagunal homolog 1
OMIM: 616012
PanelMode of inheritanceDetails
3 panels
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
616022 Neutropenia, severe congenital, 6, 616022 Neutropenia, severe congenital, 6, autosomal recessive
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SEVERE CONGENITAL NEUTROPENIA
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutropenia, severe congenital, Congenital neutropenia, Neutropenia, severe congenital, 6, autosomal recessive,616022, severe congenital neutropenia, Myeloid maturation arrest, osteopenia, Congenital defects of phagocyte number or function