Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SH3GL1

SH3GL1 (SH3 domain containing GRB2 like 1, endophilin A2)
EnsemblGeneIds (GRCh38): ENSG00000141985
EnsemblGeneIds (GRCh37): ENSG00000141985
OMIM: 601768, Gene2Phenotype
SH3GL1 is in 1 panel

1 review

Isaac ‎Machado Azevedo (Independent Researcher)

I don't know

1 patient from a consanguineous family, homozygous c.427delC (p.Leu143Serfs*9); predominantly antibody deficiency (panhypogammaglobulinemia) with reduced SH3GL1 protein on immunoblot. PMID 39499372.
Created: 6 Oct 2026, 6:07 p.m. | Last Modified: 6 Oct 2026, 6:07 p.m.

Panel Version: 9.109

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 6 Oct 2026, 6:07 p.m.
Last Modified: 6 Oct 2026, 6:07 p.m.
Panel version: 9.109

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

OMIM

601768

Clinvar variants

Variants in SH3GL1

Penetrance

None

Panels with this gene

Primary immunodeficiency or monogenic inflammatory bowel disease

History Filter Activity

6 Oct 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SH3GL1 was added gene: SH3GL1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: SH3GL1 was set to BIALLELIC, autosomal or pseudoautosomal

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: SH3GL1