Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: AFP

Amber List (moderate evidence)

AFP (alpha fetoprotein)
EnsemblGeneIds (GRCh38): ENSG00000081051
EnsemblGeneIds (GRCh37): ENSG00000081051
OMIM: 104150, Gene2Phenotype
AFP is in 1 panel

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Raised or low levels of AFP are observed in some medical conditions, kept Amber due to possible phenotypic overlap.
Created: 30 Mar 2022, 2:09 a.m. | Last Modified: 30 Mar 2022, 2:09 a.m.
Panel Version: 0.12311

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 15280901 - 2 unrelated Arabic families with the same hom PTC (NMD pred, possible founder) in a patients with AFP deficiency. Hom patients (incl a parent) were asymptomatic

PMID: 18854864 - 1 Algerian patient with Down syndrome and a hom PTC (NMD pred), resulting in AFP deficiency.

No hom PTCs in gnomAD
Created: 29 Mar 2022, 11:05 p.m. | Last Modified: 29 Mar 2022, 11:05 p.m.
Panel Version: 0.12281

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alpha-fetoprotein deficiency MIM#615969; [Hereditary persistence of alpha-fetoprotein] MIM#615970

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Alpha-fetoprotein deficiency MIM#615969
  • [Hereditary persistence of alpha-fetoprotein] MIM#615970
OMIM
104150
Clinvar variants
Variants in AFP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: afp has been classified as Amber List (Moderate Evidence).

30 Mar 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AFP were changed from to Alpha-fetoprotein deficiency MIM#615969; [Hereditary persistence of alpha-fetoprotein] MIM#615970

30 Mar 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AFP were set to

30 Mar 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AFP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

30 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: afp has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AFP was added gene: AFP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AFP was set to Unknown