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Fetal anomalies

Gene: SEMA3E

Amber List (moderate evidence)

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

1 review

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

Heterozygous variant identified in a fetus given a clinical diagnosis of CHARGE syndrome.
One individual with a translocation and one individual with a missense variant reported in 2004; some functional data.
Sources: Literature
Created: 24 Feb 2022, 10:16 a.m.

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
  • Literature
Phenotypes
  • CHARGE syndrome - MIM#214800
OMIM
608166
Clinvar variants
Variants in SEMA3E
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Feb 2022, 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).

24 Feb 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Feb 2022, 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).

24 Feb 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: SEMA3E was added gene: SEMA3E was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SEMA3E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEMA3E were set to 31691538; 31464029; 15235037 Phenotypes for gene: SEMA3E were set to ?CHARGE syndrome - MIM#214800 Review for gene: SEMA3E was set to AMBER