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Paediatric disorders - additional genes v1.96 AGT Arina Puzriakova Tag for-review was removed from gene: AGT.
Paediatric disorders - additional genes v1.96 AGTR1 Arina Puzriakova Tag for-review was removed from gene: AGTR1.
Paediatric disorders - additional genes v1.96 AGTR1 Sarah Leigh commented on gene: AGTR1
Paediatric disorders - additional genes v1.96 AGT Sarah Leigh commented on gene: AGT
Paediatric disorders - additional genes v1.95 AGTR1 Arina Puzriakova Source Expert Review Green was added to AGTR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 AGT Arina Puzriakova Source Expert Review Green was added to AGT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.32 AGTR1 Rebecca Foulger Classified gene: AGTR1 as Amber List (moderate evidence)
Paediatric disorders - additional genes v1.32 AGTR1 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber for now. Plenty of literature suggesting links between AGTR1 polymorphisms and disease risk for e.g. pulmonary arterial hypertension (e.g. PMID:25603901) but key congenital disorder seems to be renal dysgenesis (PMID:16116425).
Paediatric disorders - additional genes v1.32 AGTR1 Rebecca Foulger Gene: agtr1 has been classified as Amber List (Moderate Evidence).
Paediatric disorders - additional genes v1.31 AGTR1 Rebecca Foulger commented on gene: AGTR1: PMID:16116425. Gribouval et al. 2005 studied 9 families (11 indivs) with AR renal tubular dysgenesis, and found variants in REN, AGT, ACE or AGTR1.
Paediatric disorders - additional genes v1.27 AGT Rebecca Foulger Classified gene: AGT as Amber List (moderate evidence)
Paediatric disorders - additional genes v1.27 AGT Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber for now: renal tubulogenesis is key phenotype and therefore CAKUT may be isolated.
Paediatric disorders - additional genes v1.27 AGT Rebecca Foulger Gene: agt has been classified as Amber List (Moderate Evidence).
Paediatric disorders - additional genes v1.23 ACE Rebecca Foulger commented on gene: ACE: PMID:16116425. Gribouval et al. 2005 studied 9 families (11 indivs) with AR renal tubular dysgenesis, and found variants in REN, AGT, ACE or AGTR1.
Paediatric disorders - additional genes v1.21 AGT Rebecca Foulger commented on gene: AGT: PMID:16116425. Gribouval et al. 2005 studied 9 families (11 indivs) with AR renal tubular dysgenesis, and found variants in REN, AGT, ACE or AGTR1.
Paediatric disorders - additional genes v1.21 AGT Rebecca Foulger changed review comment from: Added to Paediatric disorders - additional genes panel, based on Green rating on CAKUT panel V1.106. Note that AGT is on V14.137 Paediatric panel already but with Red rating.; to: Added to Paediatric disorders - additional genes panel, based on Green rating on CAKUT panel V1.106. Note that AGT is on V14.137 Paediatric disorders panel already but with Red rating.
Paediatric disorders - additional genes v1.21 AGT Rebecca Foulger Phenotypes for gene: AGT were changed from CAKUT; {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430; Renal Tubular Dysgenesis to Renal tubular dysgenesis, 267430; CAKUT
Paediatric disorders - additional genes v1.20 AGT Rebecca Foulger Publications for gene: AGT were set to
Paediatric disorders - additional genes v1.8 AGTR1 Rebecca Foulger Classified gene: AGTR1 as Amber List (moderate evidence)
Paediatric disorders - additional genes v1.8 AGTR1 Rebecca Foulger Gene: agtr1 has been classified as Amber List (Moderate Evidence).
Paediatric disorders - additional genes v1.7 AGT Rebecca Foulger Classified gene: AGT as Amber List (moderate evidence)
Paediatric disorders - additional genes v1.7 AGT Rebecca Foulger Gene: agt has been classified as Amber List (Moderate Evidence).
Paediatric disorders - additional genes v1.4 AGTR1 Rebecca Foulger Tag for-review tag was added to gene: AGTR1.
Paediatric disorders - additional genes v1.4 AGTR1 Rebecca Foulger commented on gene: AGTR1: Added 'for-review' tag: Requires GLH review as to whether CAKUT phenotype is sufficient for inclusion on Paediatric disorders panel.
Paediatric disorders - additional genes v1.4 AGT Rebecca Foulger Tag for-review tag was added to gene: AGT.
Paediatric disorders - additional genes v1.4 AGT Rebecca Foulger commented on gene: AGT: Added 'for-review' tag: Requires GLH review as to whether CAKUT phenotype is sufficient for inclusion on Paediatric disorders panel.
Paediatric disorders - additional genes v1.4 AGT Rebecca Foulger commented on gene: AGT
Paediatric disorders - additional genes v1.4 AGTR1 Rebecca Foulger commented on gene: AGTR1
Paediatric disorders - additional genes v1.3 AGT Rebecca Foulger gene: AGT was added
gene: AGT was added to Paediatric disorders - additional genes. Sources: Other,Expert Review Green
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGT were set to CAKUT; {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430; Renal Tubular Dysgenesis
Paediatric disorders - additional genes v1.3 AGTR1 Rebecca Foulger gene: AGTR1 was added
gene: AGTR1 was added to Paediatric disorders - additional genes. Sources: Other,Expert Review Green
Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGTR1 were set to CAKUT; Hypertension, essential, 145500; Renal Tubular Dysgenesis; Renal tubular dysgenesis, 267430