Combined Immunodeficiency

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, 2:23 a.m. | Last Modified: 12 Aug 2021, 2:23 a.m.
Panel Version: 0.309

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
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
OMIM
604457
Clinvar variants
Variants in SP110
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sp110 has been classified as Green List (High Evidence).

12 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SP110 were changed from to 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

12 Aug 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: SP110.

12 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SP110 were set to

12 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SP110 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

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 Combined immunodeficiency_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