Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: F8

Red List (low evidence)

F8 (coagulation factor VIII)
EnsemblGeneIds (GRCh38): ENSG00000185010
EnsemblGeneIds (GRCh37): ENSG00000185010
OMIM: 300841, Gene2Phenotype
F8 is in 7 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

The intron 22 inversion (Inv22) mutation of F8 causes about 45% of severe HA cases, which is not detectable by WES.

Most variants identified to date through carrier screening has been missense variants which are typically associated with an unreportable phenotype (ie. not severe early onset)
Created: 14 Jul 2022, 2:48 a.m. | Last Modified: 14 Jul 2022, 2:48 a.m.
Panel Version: 0.40

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

Phenotypes
Hemophilia A (MIM#306700)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Hemophilia A, 306700 (3)
Tags
SV/CNV
OMIM
300841
Clinvar variants
Variants in F8
Penetrance
None
Panels with this gene

History Filter Activity

14 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: f8 has been classified as Red List (Low Evidence).

14 Jul 2022, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: F8.

14 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: f8 has been classified as Red List (Low Evidence).

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: F8 was added gene: F8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: F8 were set to Hemophilia A, 306700 (3)