| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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. |
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| 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. |
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| 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. |
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| 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 |
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| 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 |
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| 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 |
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| Diabetes Insipidus v0.0 |
Bryony Thompson Added Panel Diabetes Insipidus Set panel types to: Royal Melbourne Hospital; Rare Disease |
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