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Diabetes Insipidus v2.0 AVPR2 Gene migrated from ENSG00000126895 to ENSG00000126895 (gene set migration)
Diabetes Insipidus v2.0 AVP Gene migrated from ENSG00000101200 to ENSG00000101200 (gene set migration)
Diabetes Insipidus v2.0 AQP2 Gene migrated from ENSG00000167580 to ENSG00000167580 (gene set migration)
Diabetes Insipidus v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.4
Diabetes Insipidus v1.3 Zornitza Stark HPO terms changed from to Polydipsia, HP:0001959; Polyuria, HP:0000103
Diabetes Insipidus v1.2 Zornitza Stark List of related panels changed from to Polydipsia; HP:0001959; Polyuria; HP:0000103
Diabetes Insipidus v1.1 AVPR2 Zornitza Stark Marked gene: AVPR2 as ready
Diabetes Insipidus v1.1 AVPR2 Zornitza Stark Gene: avpr2 has been classified as Green List (High Evidence).
Diabetes Insipidus v1.1 AVPR2 Zornitza Stark Tag treatable tag was added to gene: AVPR2.
Tag clinical trial tag was added to gene: AVPR2.
Diabetes Insipidus v1.1 AVPR2 Zornitza Stark reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic MIM#304800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Diabetes Insipidus v1.1 AVP Zornitza Stark Tag treatable tag was added to gene: AVP.
Tag clinical trial tag was added to gene: AVP.
Diabetes Insipidus v1.1 AVP Zornitza Stark reviewed gene: AVP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, neurohypophyseal MIM#125700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diabetes Insipidus v1.1 AQP2 Zornitza Stark Tag treatable tag was added to gene: AQP2.
Tag clinical trial tag was added to gene: AQP2.
Diabetes Insipidus v1.1 AQP2 Zornitza Stark reviewed gene: AQP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic MIM#125800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Diabetes Insipidus v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Diabetes Insipidus v1.0 Bryony Thompson promoted panel to version 1.0
Diabetes Insipidus v0.6 AVP Bryony Thompson Marked gene: AVP as ready
Diabetes Insipidus v0.6 AVP Bryony Thompson Gene: avp has been classified as Green List (High Evidence).
Diabetes Insipidus v0.6 AVP Bryony Thompson Classified gene: AVP as Green List (high evidence)
Diabetes Insipidus v0.6 AVP Bryony Thompson Gene: avp has been classified as Green List (High Evidence).
Diabetes Insipidus v0.5 AVP Bryony Thompson 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
Added comment: Well-established cause of neurohypophyseal diabetes insipidus, and supporting rat model.
Sources: Expert list
Diabetes Insipidus v0.4 AQP2 Bryony Thompson Marked gene: AQP2 as ready
Diabetes Insipidus v0.4 AQP2 Bryony Thompson Gene: aqp2 has been classified as Green List (High Evidence).
Diabetes Insipidus v0.4 AQP2 Bryony Thompson Classified gene: AQP2 as Green List (high evidence)
Diabetes Insipidus v0.4 AQP2 Bryony Thompson Gene: aqp2 has been classified as Green List (High Evidence).
Diabetes Insipidus v0.3 AQP2 Bryony Thompson gene: AQP2 was added
gene: AQP2 was added to Diabetes Insipidus. Sources: Expert list
Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AQP2 were set to 7524315; 20301356; 27156763; 9649557
Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic MIM#125800
Review for gene: AQP2 was set to GREEN
gene: AQP2 was marked as current diagnostic
Added comment: Well-established cause of nephrogenic diabetes insipidus. Loss of function is the mechanism of disease for the recessive form, while the dominantly inherited form is caused by pathogenic variants with a dominant negative effect.
Sources: Expert list
Diabetes Insipidus v0.2 AVPR2 Bryony Thompson Classified gene: AVPR2 as Green List (high evidence)
Diabetes Insipidus v0.2 AVPR2 Bryony Thompson Gene: avpr2 has been classified as Green List (High Evidence).
Diabetes Insipidus v0.1 AVPR2 Bryony Thompson gene: AVPR2 was added
gene: AVPR2 was added to Diabetes Insipidus. Sources: Expert list
SV/CNV tags were added to gene: AVPR2.
Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AVPR2 were set to 1356229; 20301356; 27156763
Phenotypes for gene: AVPR2 were set to Diabetes insipidus, nephrogenic MIM#304800
Review for gene: AVPR2 was set to GREEN
gene: AVPR2 was marked as current diagnostic
Added comment: Well-established cause of nephrogenic diabetes insipidus (most common cause). ~10% of disease-causing variants are large deletions. females are unlikely to be affected, but heterozygous females can exhibit variable degrees of polyuria and polydipsia because of skewed X chromosome inactivation
Sources: Expert list
Diabetes Insipidus v0.0 Bryony Thompson Added Panel Diabetes Insipidus
Set panel types to: Royal Melbourne Hospital; Rare Disease