NSMCE3

NSE3 homolog, SMC5-SMC6 complex component
OMIM: 608243, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green NSMCE3 in COVID-19 research Level 2: Viral research Version 1.147	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS North West GLH Expert Review Green NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Phenotypes Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 Combined immunodeficiencies with associated or syndromic features Severe lung disease (possibly viral), thymic hypoplasia, Chromosomal breakage, radiation sensitivity
Green NSMCE3 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.85 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Phenotypes Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 Severe lung disease (possibly viral), thymic hypoplasia, Chromosomal breakage, radiation sensitivity Combined immunodeficiencies with associated or syndromic features
Red NSMCE3 in DDG2P Version 6.426 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes DISTINCT DNA BREAKAGE SYNDROME