Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: AIP

Green List (high evidence)

AIP (aryl hydrocarbon receptor interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000110711
EnsemblGeneIds (GRCh37): ENSG00000110711
OMIM: 605555, Gene2Phenotype
AIP is in 4 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Germline variants in AIP cause predisposition to pituitary adenomas which may result in acromegaly.

A 2015 cohort study of 143 patients with pituitary gigantism who consented to genetic testing found 29% had variants in AIP. Age at first symptoms was 9-13 years, age at diagnosis 14-20 years.

Many patients have no family history, suggesting low penetrance.
Created: 7 Oct 2021, 2:36 a.m. | Last Modified: 7 Oct 2021, 2:40 a.m.
Panel Version: 0.9338

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Pituitary adenoma predisposition MIM#102200

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pituitary adenoma predisposition MIM#102200
OMIM
605555
Clinvar variants
Variants in AIP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AIP were changed from to Pituitary adenoma predisposition MIM#102200

7 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AIP were set to

7 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AIP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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