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Prepair 1000+

Gene: EFNB1

Green List (high evidence)

EFNB1 (ephrin B1)
EnsemblGeneIds (GRCh38): ENSG00000090776
EnsemblGeneIds (GRCh37): ENSG00000090776
OMIM: 300035, Gene2Phenotype
EFNB1 is in 11 panels

3 reviews

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males.

Males hemizygous for pathogenic variants in these genes are asymptomatic. Therefore, daughters are at 100% risk of being affected.

Therefore, specific filtering are in place for screening of male partners to inform reproductive risk.
Created: 8 Jan 2025, 5:23 a.m. | Last Modified: 8 Jan 2025, 5:23 a.m.
Panel Version: 1.992

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Craniofrontonasal dysplasia MIM#304110

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Requires screening of male partners to inform reproductive risk as the condition is more severe in females.
R/V ZS/AY/SL/JM/CL/AA.
Created: 11 Aug 2022, 7:15 a.m. | Last Modified: 11 Aug 2022, 7:15 a.m.
Panel Version: 0.116

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Craniofrontonasal dysplasia (MIM#304110)

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Well-established gene disease association. Query scope of testing. Only screening X chromosome in females and gene is diagnostic in females.
Created: 14 Jul 2022, 5:16 a.m. | Last Modified: 14 Jul 2022, 5:16 a.m.
Panel Version: 0.40

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Craniofrontonasal dysplasia (MIM#304110)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Craniofrontonasal dysplasia (MIM#304110)
OMIM
300035
Clinvar variants
Variants in EFNB1
Penetrance
None
Panels with this gene

History Filter Activity

11 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: efnb1 has been classified as Green List (High Evidence).

11 Aug 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EFNB1 were changed from Craniofrontonasal dysplasia, 304110 (3) to Craniofrontonasal dysplasia (MIM#304110)

11 Aug 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: EFNB1.

14 Jul 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: EFNB1.

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EFNB1 was added gene: EFNB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EFNB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EFNB1 were set to Craniofrontonasal dysplasia, 304110 (3)