COVID-19 research
Gene: SNX10

SNX10 (sorting nexin 10)
EnsemblGeneIds (GRCh38): ENSG00000086300
EnsemblGeneIds (GRCh37): ENSG00000086300
OMIM: 614780, Gene2Phenotype
SNX10 is in 6 panels

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Recurrent infection may be present but other features predominate
Created: 7 May 2020, 12:45 p.m. | Last Modified: 7 May 2020, 12:45 p.m.

Panel Version: 0.201

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
infantile osteopetrosis

Publications

Created: 7 May 2020, 12:45 p.m.
Last Modified: 7 May 2020, 12:45 p.m.
Panel version: 0.201

Louise Daugherty (Genomics England Curator)

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): SNX10 .PanelApp HGNC gene symbol check: SNX10 . IUIS Disease: SNX10 deficiency associated osteopetrosis . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Osteoclasts. IUIS Associated features: Osteopetrosis with visual impairment. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues
Created: 6 Jul 2018, 12:36 p.m.

Created: 6 Jul 2018, 12:36 p.m.

Panel version: Imported from Primary immunodeficiency panel version 0.1567

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
IUIS Classification December 2019
IUIS Classification February 2018
IUIS Classification December 2019
IUIS Classification February 2018

Phenotypes

Osteopetrosis with visual impairment
Defects in intrinsic and innate immunity
Defects in Intrinsic and Innate Immunity

OMIM

614780

Clinvar variants

Variants in SNX10

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to SNX10. Added phenotypes Defects in intrinsic and innate immunity; Osteopetrosis with visual impairment; Defects in Intrinsic and Innate Immunity for gene: SNX10 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SNX10 was added gene: SNX10 was added to Viral susceptibility. Sources: IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNX10 were set to 32086639; 32048120 Phenotypes for gene: SNX10 were set to Defects in intrinsic and innate immunity; Osteopetrosis with visual impairment; Defects in Intrinsic and Innate Immunity

COVID-19 research Gene: SNX10