GINS1

GINS complex subunit 1
OMIM: 610608, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green GINS1 in COVID-19 research


Level 2: Viral research
Version 1.80

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


Version 2.478
Latest signed off version: v2.1 (24 Feb 2020)

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 1.43
Latest signed off version: v1.29 (15 Oct 2020)

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 1.84

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 55, 617827