SP110

SP110 nuclear body protein
OMIM: 604457, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green SP110 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hepatic veno-occlusive disease with immunodeficiency MIM#235550 Hepatic veno-occlusive disease susceptibility to Pneumocystis jirovecii pneumonia cytomegalovirus thrombocytopaenia hepatosplenomegaly cerebrospinal leukodystrophy memory T/B cell deficiency low Ig levels absent tissue plasma cells absent lymph node germinal centers hypogammaglobulinaemia Tags founder
Green SP110 in Predominantly Antibody Deficiency Level 2: Immunological disorders Version 0.135 Component of the following Super Panels: Immunological disorders_SuperPanel	review	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green
Green SP110 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Hepatic veno-occlusive disease with immunodeficiency MIM#235550 Hepatic veno-occlusive disease susceptibility to Pneumocystis jirovecii pneumonia cytomegalovirus thrombocytopaenia hepatosplenomegaly cerebrospinal leukodystrophy memory T/B cell deficiency low Ig levels absent tissue plasma cells absent lymph node germinal centers hypogammaglobulinaemia Tags founder
Green SP110 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hepatic venoocclusive disease with immunodeficiency, 235550 (3)
Green SP110 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hepatic venoocclusive disease with immunodeficiency
Red SP110 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Hepatic venoocclusive disease with immunodeficiency 235550
Green SP110 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hepatic venoocclusive disease with immunodeficiency, 235550 (3)
Green SP110 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Hepatic veno-occlusive disease with immunodeficiency MIM#235550 Tags treatable immunological