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Mendeliome

Gene: SEMA3E

Amber List (moderate evidence)

SEMA3E (semaphorin 3E)
EnsemblGeneIds (GRCh38): ENSG00000170381
EnsemblGeneIds (GRCh37): ENSG00000170381
OMIM: 608166, Gene2Phenotype
SEMA3E is in 6 panels

2 reviews

Lucy Spencer (Victorian Clinical Genetics Services)

I don't know

Already in Panelapp
PMID: 15235037 – 1 CHARGE patient with a de novo missense (Ser703Leu), and another with a de novo translocation that was adjacent to SEMA3E. This variant has 7 hets in gnomad and 3 VUS entries in Clinvar.
PMID: 31691538 – Fetus with CHARGE with a de novo Ala443Thr SEMA3E variant. Absent from gnomad.
PMID: 31464029 – knock down of SEMA3E severe craniofacial malformations, including small eyes, defective cartilage and an abnormal number of otoliths in zebrafish embryos. Overexpression of SEMA3E rescues the phenotype.

New reports
PMID: 35628442 -patient with severe ID and cognitive regression, no dysmorphic features. Has Arg208Aspfs*15 (NMD predicted). Functional studies showed a truncated protein on western blot (only after overexpressing the mutant) and protein retention in the ER. Variant absent from gnomad
PMID: 32441320 - found the same Ser703Leu missense as the first paper this time de novo in 2 identical twins with inborn errors of immunity who had no features of CHARGE syndrome.

Gene sort of constrained for LOF variant (pLoF 0.68 in gnomad) but 3 NMD variants with 2-3 hets.
Created: 18 Sep 2023, 4:52 a.m. | Last Modified: 18 Sep 2023, 4:52 a.m.
Panel Version: 1.1173

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CHARGE syndrome MONDO:0008965, SEMA3E-related

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

One individual with a translocation and one individual with a missense variant reported in 2004;recent report of a fetus with de novo missense variant and diagnosis of CHARGE; some functional data.
Created: 11 Apr 2020, 9:41 a.m. | Last Modified: 11 Apr 2020, 9:41 a.m.
Panel Version: 0.2132

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CHARGE syndrome, MIM#214800

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • CHARGE syndrome, MIM#214800
OMIM
608166
Clinvar variants
Variants in SEMA3E
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Sep 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SEMA3E were set to 15235037; 31691538; 31464029

11 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sema3e has been classified as Amber List (Moderate Evidence).

11 Apr 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SEMA3E were changed from to CHARGE syndrome, MIM#214800

11 Apr 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SEMA3E were set to

11 Apr 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SEMA3E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sema3e has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SEMA3E was added gene: SEMA3E was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SEMA3E was set to Unknown