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  3. AVP
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Diabetes Insipidus

Gene: AVP

Green List (high evidence)
AVP (arginine vasopressin)
EnsemblGeneIds (GRCh38): ENSG00000101200
EnsemblGeneIds (GRCh37): ENSG00000101200
OMIM: 192340, Gene2Phenotype
AVP is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Onset in childhood with polydipsia and polyuria. Can be life-threatening.
Treatment: DDAVP. Clinical trials.
Created: 22 Sep 2022, 12:27 a.m. | Last Modified: 22 Sep 2022, 12:27 a.m.
Panel Version: 1.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diabetes insipidus, neurohypophyseal MIM#125700

Created: 22 Sep 2022, 12:27 a.m.
Last Modified: 22 Sep 2022, 12:27 a.m.
Panel version: 1.1

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established cause of neurohypophyseal diabetes insipidus, and supporting rat model.
Sources: Expert list
Created: 2 Dec 2020, 1:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diabetes insipidus, neurohypophyseal MIM#125700

Publications

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

Created: 2 Dec 2020, 1:30 a.m.

Panel version: 0.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Diabetes insipidus, neurohypophyseal MIM#125700
Tags
treatable clinical trial
OMIM
192340
Clinvar variants
Variants in AVP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Sep 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: AVP. Tag clinical trial tag was added to gene: AVP.

2 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Dec 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: AVP was added gene: AVP was added to Diabetes Insipidus. Sources: Expert list Mode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AVP were set to 6526016; 1840604; 8554046 Phenotypes for gene: AVP were set to Diabetes insipidus, neurohypophyseal MIM#125700 Review for gene: AVP was set to GREEN gene: AVP was marked as current diagnostic