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 1.3499	1 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 1.4 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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 1.135 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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 0.110	0 reviews	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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hepatic venoocclusive disease with immunodeficiency
Red SP110 in Fetal anomalies Version 1.465	1 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 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hepatic venoocclusive disease with immunodeficiency, 235550 (3)
Green SP110 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 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