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  3. F7
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Additional findings_Paediatric

Gene: F7

Green List (high evidence)
F7 (coagulation factor VII)
EnsemblGeneIds (GRCh38): ENSG00000057593
EnsemblGeneIds (GRCh37): ENSG00000057593
OMIM: 613878, Gene2Phenotype
F7 is in 7 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Factor VII deficiency is an autosomal recessive bleeding disorder showing variable severity. Not reviewed by Babyseq, included in NC NEXUS list. Bleeding treatable with factor replacement.
Sources: Expert list
Created: 6 Oct 2020, 3:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Factor VII deficiency MIM# 227500

Created: 6 Oct 2020, 3:24 a.m.

Panel version: 0.106

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Factor VII deficiency MIM# 227500
OMIM
613878
Clinvar variants
Variants in F7
Penetrance
None
Panels with this gene

History Filter Activity

6 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: f7 has been classified as Green List (High Evidence).

6 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: f7 has been classified as Green List (High Evidence).

6 Oct 2020, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: F7 was added gene: F7 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F7 were set to Factor VII deficiency MIM# 227500 Review for gene: F7 was set to GREEN