Predominantly Antibody Deficiency

Gene: SP110

Green List (high evidence)

SP110 (SP110 nuclear body protein)
EnsemblGeneIds (GRCh38): ENSG00000135899
EnsemblGeneIds (GRCh37): ENSG00000135899
OMIM: 604457, Gene2Phenotype
SP110 is in 8 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

9 individuals from 8 unrelated families; additionally over 15 individuals from Lebanese population with founder effect demonstrated; no mouse model

Homozygous deletion and missense variants reported; Common founder variant c.642delC (Lebanese population)

Typically, patients present in the first year of life with severe bacterial, viral, and fungal infections and liver disease with low Ig levels, mostly characterised by terminal hepatic lobular vascular occlusion and/or fibrosis.
Created: 12 Aug 2021, 5:24 a.m. | Last Modified: 12 Aug 2021, 5:24 a.m.
Panel Version: 0.8767

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
604457
Clinvar variants
Variants in SP110
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SP110 was added gene: SP110 was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: SP110 was set to Unknown