Genomics England
GMS Panels
Panels
Genes and Entities

GINS1

GINS complex subunit 1
OMIM: 610608
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GINS1 deficiency, intrauterine growth retardation, chronic neutropenia, NK cell deficiency, Immunodeficiency 55, 617827, Neutropenia, IUGR, NK cells very low, Combined immunodeficiencies with associated or syndromic features