Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SEMA3E
Only 2 patients describedCreated: 11 Jun 2018, 12:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
The following PubMed IDs were added to gene SEMA3E (OMIM gene MIM#608166): 11241468. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208
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 phenotypeCreated: 9 May 2018, 3:41 p.m.
Publications
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 AnomaliesCreated: 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 evidenceCreated: 13 Jun 2018, 10:12 a.m.
Comment on publications: added further publications to support immune-mediated cerebellar ataxiaCreated: 13 Jun 2018, 10:10 a.m.
Comment on phenotypes: added immune relevant phenotypes, not CHARGE syndrome, immune-mediated cerebellar ataxiaCreated: 13 Jun 2018, 10:08 a.m.
Comment on publications: Added publications suggested from external expert review to support immunological associationCreated: 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 syndromeCreated: 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: ENST00000307792Created: 17 Apr 2018, 12:12 p.m.
Source Other was added to SEMA3E. Publications for gene SEMA3E were updated from 12144540; 1735828; 32048120; 21055784; 32086639 to 12144540; 1735828; 11241468; 32048120; 21055784; 32086639
Source IUIS Classification December 2019 was added to SEMA3E. Added phenotypes Coloboma, heart anomaly, choanal atresia, intellectual retardation, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs; Combined immunodeficiencies with associated or syndromic features for gene: SEMA3E Publications for gene SEMA3E were updated from 1735828; 21055784; 12144540 to 12144540; 1735828; 32048120; 21055784; 32086639
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Phenotypes for gene SEMA3E were set to Charge syndrome 214800, CHARGE syndrome, immune-mediated cerebellar ataxia, Coloboma, heart anomaly, choanal atresia, intellectual retardation, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs, Combined immunodeficiencies with associated or syndromic features
IUIS Classification February 2018 was added to SEMA3E. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to SEMA3E. Panel: Primary immunodeficiency disorders
Gene: sema3e has been classified as Red List (Low Evidence).
Publications for gene: SEMA3E were set to 1735828; 21055784; 12144540
Phenotypes for gene: SEMA3E were set to Charge syndrome 214800; CHARGE syndrome; immune-mediated cerebellar ataxia
Publications for gene: SEMA3E were set to 1735828
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for SEMA3E were set to Charge syndrome 214800; CHARGE syndrome
This gene has been classified as Amber List (Moderate Evidence).
ESID Registry 20171117 was added to SEMA3E. Panel: Primary immunodeficiency disorders Phenotypes for gene SEMA3E were set to Charge syndrome, CHARGE syndrome
Phenotypes for gene SEMA3E were set to Charge syndrome
SEMA3E was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
SEMA3E was created by Louise Daugherty