COVID-19 research

Gene: SEMA3E

Red List (low evidence)

Only 2 patients described

Created: 11 Jun 2018, 12:43 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

• 1735828

Red List (low evidence)

Comment on list classification: Rating this gene red as there is not enough evidence for its role in any immunodeficiency disorder.

Created: 9 May 2018, 4:03 p.m.

SEMA3E is provisionally associated with CHARGE Syndrome in OMIM and Orphanet. CHARGE syndrome is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina and is not a immunodeficiency related disorder. No entry for SEMA3E in Gene2Phenotype. In Genetics Home Reference it is linked to Hypogonadotropic hypogonadism 7 with or without anosmia (not an immunodecficiency related disorder). A PubMed search only brings up 1 related paper which shows that Sema3E plays an essential immunoregulatory role in experimental allergic asthma in mice (Movassagh et al 2017 (PMID:28634005)). Rating this gene red as there is not enough evidence for its role in any immunodeficiency disorder.

Created: 9 May 2018, 4:03 p.m.

Comment on phenotypes: Added the MIM number to the Charge syndrome phenotype

Created: 9 May 2018, 3:41 p.m.

I don't know

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): SEMA3E .PanelApp HGNC gene symbol check: SEMA3E . IUIS Disease: CHARGE syndrome due to SEMA3E deficiency . IUIS Inheritance: AD .T cells: Modestly decreased, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Coloboma, heart anomaly, choanal atresia, intellectual retardation, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: Thymic Defects with Additional Congenital Anomalies

Created: 2 Jul 2018, 10:35 a.m.

External expert review notes Red status, not enough evidence to date, I have kept this gene Red on this panel until further evidence

Created: 13 Jun 2018, 10:12 a.m.

Comment on publications: added further publications to support immune-mediated cerebellar ataxia

Created: 13 Jun 2018, 10:10 a.m.

Comment on phenotypes: added immune relevant phenotypes, not CHARGE syndrome, immune-mediated cerebellar ataxia

Created: 13 Jun 2018, 10:08 a.m.

Comment on publications: Added publications suggested from external expert review to support immunological association

Created: 13 Jun 2018, 10:05 a.m.

This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s)
GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.

Created: 19 Apr 2018, 3:28 p.m.

Original metadata downloaded from ESID Registry. ESID_Gene_original: SEMA3E, PanelApp HGNC gene symbol check: SEMA3E, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Other well defined PIDs / CHARGE syndrome / CHARGE syndrome

Created: 17 Apr 2018, 12:29 p.m.

Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: SEMA3E, GRID_Gene_Symbol: SEMA3E, GRID_Transcript_ENS_Community submitted: ENST00000307792, GRID_Transcript_RefSeq: NM_012431.2, GRID_Transcript_ENS_used_on_Production: ENST00000307792

Created: 17 Apr 2018, 12:12 p.m.