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Choanal atresia

Gene: SEMA3E

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two individuals reported initially, one with translocation and one with a de novo missense variant, p.Ser703Leu. Note this variant is present in 7 individuals in gnomad.

Another recent report recently PMID 31691538 in a fetus with features of CHARGE, de novo missense. Some experimental data to support role in development.
Created: 27 Mar 2021, 12:21 a.m. | Last Modified: 27 Mar 2021, 12:26 a.m.
Panel Version: 0.34

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CHARGE syndrome, MIM# 214800; MONDO:0008965

Publications

Created: 27 Mar 2021, 12:21 a.m.
Last Modified: 27 Mar 2021, 12:26 a.m.
Panel version: 0.34

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • CHARGE syndrome, MIM# 214800
  • MONDO:0008965
OMIM
608166
Clinvar variants
Variants in SEMA3E
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Mar 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SEMA3E were set to 15235037

27 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sema3e has been classified as Red List (Low Evidence).

27 Mar 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SEMA3E were changed from CHARGE syndrome, 214800 to CHARGE syndrome, MIM# 214800; MONDO:0008965

27 Mar 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SEMA3E were set to

25 Mar 2021, Gel status: 1

Added New Source, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source Genomics England PanelApp was added to SEMA3E. Added phenotypes CHARGE syndrome, 214800 for gene: SEMA3E

25 Mar 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SEMA3E was added gene: SEMA3E was added to Choanal atresia. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: SEMA3E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SEMA3E were set to CHARGE syndrome, 214800