GINS1

GINS complex subunit 1
OMIM: 610608, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green GINS1 in COVID-19 research Level 2: Viral research Version 1.142	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Expert Review Green ESID Registry 20171117 Phenotypes Immunodeficiency 55, 617827 NK cell deficiency chronic neutropenia Neutropenia, IUGR, NK cells very low GINS1 deficiency Combined immunodeficiencies with associated or syndromic features intrauterine growth retardation
Green GINS1 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Expert Review Green ESID Registry 20171117 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
Red GINS1 in Cytopenia - NOT Fanconi anaemia Version 3.33 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert review Red NHS GMS North West GLH London South GLH Yorkshire and North East GLH Wessex and West Midlands GLH Phenotypes Immunodeficiency 55, 617827
Green GINS1 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Immunodeficiency 55, 617827