{"count":220959,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1958","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1956","results":[{"created":"2020-01-28T21:06:16.889979+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1739","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALX3 as Amber List (moderate evidence)","entity_name":"ALX3","entity_type":"gene"},{"created":"2020-01-28T21:06:16.882285+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1739","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alx3 has been classified as Amber List (Moderate Evidence).","entity_name":"ALX3","entity_type":"gene"},{"created":"2020-01-28T21:05:33.270629+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1738","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ALX3: Added comment: Majority have normal intellectual function, demote to Amber.; Changed rating: AMBER","entity_name":"ALX3","entity_type":"gene"},{"created":"2020-01-28T20:59:23.480244+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.554","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALKBH8 as Green List (high evidence)","entity_name":"ALKBH8","entity_type":"gene"},{"created":"2020-01-28T20:59:23.473052+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.554","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alkbh8 has been classified as Green List (High Evidence).","entity_name":"ALKBH8","entity_type":"gene"},{"created":"2020-01-28T20:58:13.283500+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1002","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALKBH8 as Green List (high evidence)","entity_name":"ALKBH8","entity_type":"gene"},{"created":"2020-01-28T20:58:13.276264+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1002","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alkbh8 has been classified as Green List (High Evidence).","entity_name":"ALKBH8","entity_type":"gene"},{"created":"2020-01-28T20:57:16.743112+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1738","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALKBH8 as Green List (high evidence)","entity_name":"ALKBH8","entity_type":"gene"},{"created":"2020-01-28T20:57:16.729044+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1738","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alkbh8 has been classified as Green List (High Evidence).","entity_name":"ALKBH8","entity_type":"gene"},{"created":"2020-01-28T20:52:57.818654+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1737","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-01-28T20:44:02.519411+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1737","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG2 as ready","entity_name":"ALG2","entity_type":"gene"},{"created":"2020-01-28T20:44:02.512228+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1737","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg2 has been classified as Red List (Low Evidence).","entity_name":"ALG2","entity_type":"gene"},{"created":"2020-01-28T20:43:55.761876+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1737","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG2 were changed from Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906 to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906","entity_name":"ALG2","entity_type":"gene"},{"created":"2020-01-28T20:43:10.402699+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1736","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG2 were changed from  to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906","entity_name":"ALG2","entity_type":"gene"},{"created":"2020-01-28T20:42:28.732097+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1735","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG2","entity_type":"gene"},{"created":"2020-01-28T20:41:49.205717+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1734","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALG2 as Red List (low evidence)","entity_name":"ALG2","entity_type":"gene"},{"created":"2020-01-28T20:41:49.197077+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1734","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg2 has been classified as Red List (Low Evidence).","entity_name":"ALG2","entity_type":"gene"},{"created":"2020-01-28T20:41:03.424643+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1733","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228, Congenital disorder of glycosylation, type Ii, MIM# 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG2","entity_type":"gene"},{"created":"2020-01-28T19:34:37.446491+11:00","panel_name":"Skeletal Muscle Channelopathies","panel_id":302,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Royal Melbourne Hospital; Rare Disease; Victorian Clinical Genetics Services","entity_name":null,"entity_type":null},{"created":"2020-01-28T19:29:50.727996+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FLG2 as Red List (low evidence)","entity_name":"FLG2","entity_type":"gene"},{"created":"2020-01-28T19:29:50.720526+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flg2 has been classified as Red List (Low Evidence).","entity_name":"FLG2","entity_type":"gene"},{"created":"2020-01-28T17:41:32.567277+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: JUP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"JUP","entity_type":"gene"},{"created":"2020-01-28T17:41:00.639611+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: JUP were changed from Naxos disease MIM#601214; Congenital epidermolysis bullosa to Naxos disease MIM#601214; Congenital epidermolysis bullosa","entity_name":"JUP","entity_type":"gene"},{"created":"2020-01-28T17:40:44.471482+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JUP as ready","entity_name":"JUP","entity_type":"gene"},{"created":"2020-01-28T17:40:44.462880+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jup has been classified as Amber List (Moderate Evidence).","entity_name":"JUP","entity_type":"gene"},{"created":"2020-01-28T17:40:29.058942+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: JUP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"JUP","entity_type":"gene"},{"created":"2020-01-28T17:39:57.874621+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: JUP were set to 21320868; 29173316","entity_name":"JUP","entity_type":"gene"},{"created":"2020-01-28T17:39:26.499298+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: JUP were changed from  to Naxos disease MIM#601214; Congenital epidermolysis bullosa","entity_name":"JUP","entity_type":"gene"},{"created":"2020-01-28T17:38:55.270361+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: JUP were set to ","entity_name":"JUP","entity_type":"gene"},{"created":"2020-01-28T17:32:47.880603+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-01-28T17:31:42.879547+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FLG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 6, MIM# 618084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FLG2","entity_type":"gene"},{"created":"2020-01-28T17:31:14.778001+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: No reported evidence that epidermolysis bullosa specifically is associated with this gene. The gene appears to better suited to the Palmoplantar Keratoderma and Erythrokeratoderma panel.; to: No reported evidence that epidermolysis bullosa specifically is associated with this gene. The gene appears to be better suited to the Palmoplantar Keratoderma and Erythrokeratoderma panel.","entity_name":"KDSR","entity_type":"gene"},{"created":"2020-01-28T17:30:18.294005+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"FLG2","entity_type":"gene"},{"created":"2020-01-28T17:29:39.916375+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: KDSR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythrokeratodermia variabilis et progressiva 4 MIM#617526; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KDSR","entity_type":"gene"},{"created":"2020-01-28T17:15:50.042405+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: JUP as Amber List (moderate evidence)","entity_name":"JUP","entity_type":"gene"},{"created":"2020-01-28T17:15:50.030944+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jup has been classified as Amber List (Moderate Evidence).","entity_name":"JUP","entity_type":"gene"},{"created":"2020-01-28T17:05:44.220220+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital","entity_name":null,"entity_type":null},{"created":"2020-01-28T17:04:03.971246+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FLG2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 6 MIM#618084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FLG2","entity_type":"gene"},{"created":"2020-01-28T16:51:00.088714+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: None; Publications: 21320868, 29173316; Phenotypes: Naxos disease MIM#601214, Congenital epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"JUP","entity_type":"gene"},{"created":"2020-01-28T15:23:11.703561+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1001","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP6V1C2 as ready","entity_name":"ATP6V1C2","entity_type":"gene"},{"created":"2020-01-28T15:23:11.696525+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1001","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v1c2 has been classified as Red List (Low Evidence).","entity_name":"ATP6V1C2","entity_type":"gene"},{"created":"2020-01-28T15:23:00.549056+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1001","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP6V1C2 was added\ngene: ATP6V1C2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ATP6V1C2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP6V1C2 were set to 31959358\nPhenotypes for gene: ATP6V1C2 were set to Distal renal tubular acidosis\nReview for gene: ATP6V1C2 was set to RED\nAdded comment: Single family reported, limited functional data. \nSources: Literature","entity_name":"ATP6V1C2","entity_type":"gene"},{"created":"2020-01-28T12:50:20.530522+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1733","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CACNA1D were changed from Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; intellectual disability; autism; epilepsy to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; intellectual disability; autism; epilepsy","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2020-01-28T12:50:16.096628+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1733","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA1D as ready","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2020-01-28T12:50:16.087216+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1733","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1d has been classified as Green List (High Evidence).","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2020-01-28T12:49:47.678741+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1733","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CACNA1D were changed from  to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; intellectual disability; autism; epilepsy","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2020-01-28T12:49:14.927791+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1732","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CACNA1D were set to ","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2020-01-28T12:48:41.692696+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1732","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CACNA1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2020-01-28T12:47:52.314484+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1731","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31921405, 28472301, 25620733; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474, intellectual disability, autism, epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2020-01-28T12:32:28.015778+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1000","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANKRD11 as ready","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2020-01-28T12:32:28.007838+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1000","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ankrd11 has been classified as Green List (High Evidence).","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2020-01-28T12:32:18.394948+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1000","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANKRD11 were set to ","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2020-01-28T12:31:38.618114+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1731","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANKRD11 were changed from KBG syndrome, MIM # 148050 to KBG syndrome, MIM # 148050","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2020-01-28T12:31:31.737787+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1730","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANKRD11 as ready","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2020-01-28T12:31:31.729303+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1730","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ankrd11 has been classified as Green List (High Evidence).","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2020-01-28T12:31:05.819553+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1730","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANKRD11 were changed from  to KBG syndrome, MIM # 148050","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2020-01-28T12:30:32.645510+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1730","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANKRD11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2020-01-28T12:29:16.269752+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.999","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANKRD11 were changed from  to KBG syndrome, MIM # 148050","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2020-01-28T12:28:10.139837+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.998","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANKRD11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2020-01-28T12:26:58.023712+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.997","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AGGF1 as ready","entity_name":"AGGF1","entity_type":"gene"},{"created":"2020-01-28T12:26:58.015287+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.997","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aggf1 has been classified as Red List (Low Evidence).","entity_name":"AGGF1","entity_type":"gene"},{"created":"2020-01-28T12:26:39.724111+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.997","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AGGF1 as Red List (low evidence)","entity_name":"AGGF1","entity_type":"gene"},{"created":"2020-01-28T12:26:39.715616+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.997","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aggf1 has been classified as Red List (Low Evidence).","entity_name":"AGGF1","entity_type":"gene"},{"created":"2020-01-28T12:26:21.254057+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.996","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AGGF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"AGGF1","entity_type":"gene"},{"created":"2020-01-28T12:21:10.331752+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.40","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NOTCH3 as Amber List (moderate evidence)","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2020-01-28T12:21:10.324358+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.40","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: notch3 has been classified as Amber List (Moderate Evidence).","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2020-01-28T12:21:02.303787+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.39","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NOTCH3 was added\ngene: NOTCH3 was added to Pulmonary Arterial Hypertension. Sources: Literature\nMode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NOTCH3 were set to 19855400; 31868216; 24936512\nPhenotypes for gene: NOTCH3 were set to Pulmonary arterial hypertension\nMode of pathogenicity for gene: NOTCH3 was set to Other\nReview for gene: NOTCH3 was set to AMBER\nAdded comment: Mice with homozygous deletion of Notch3 do not develop pulmonary hypertension in response to hypoxic stimulation, and pulmonary hypertension can be successfully treated in mice by administration of DAPT, a gamma-secretase inhibitor that blocks activation of Notch3 in smooth muscle cells. Suggesting a gain-of-function mechanism. Two putative gain-of-function missense identified in two PAH cases. \nSources: Literature","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2020-01-28T12:10:05.868505+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.996","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: ANKRD11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31191201, 31337854; Phenotypes: KBG syndrome (MIM # 148050); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2020-01-28T11:59:36.552246+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BMP10 as Amber List (moderate evidence)","entity_name":"BMP10","entity_type":"gene"},{"created":"2020-01-28T11:59:36.537647+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bmp10 has been classified as Amber List (Moderate Evidence).","entity_name":"BMP10","entity_type":"gene"},{"created":"2020-01-28T11:59:28.730127+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BMP10 was added\ngene: BMP10 was added to Pulmonary Arterial Hypertension. Sources: Literature\nMode of inheritance for gene: BMP10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BMP10 were set to 30578383\nPhenotypes for gene: BMP10 were set to Pulmonary arterial hypertension\nReview for gene: BMP10 was set to AMBER\nAdded comment: A truncating mutation and a predicted loss-of-function missense variant were identified in BMP10 in two severely affected sporadic PAH female patients. \nSources: Literature","entity_name":"BMP10","entity_type":"gene"},{"created":"2020-01-28T11:54:42.404461+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SMAD4 as Amber List (moderate evidence)","entity_name":"SMAD4","entity_type":"gene"},{"created":"2020-01-28T11:54:42.401146+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Two reported cases with PAH","entity_name":"SMAD4","entity_type":"gene"},{"created":"2020-01-28T11:54:42.377040+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: smad4 has been classified as Amber List (Moderate Evidence).","entity_name":"SMAD4","entity_type":"gene"},{"created":"2020-01-28T11:54:20.026760+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.35","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SMAD4 was added\ngene: SMAD4 was added to Pulmonary Arterial Hypertension. Sources: Literature\nMode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SMAD4 were set to 21898662\nPhenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MIM#175050; Pulmonary arterial hypertension\nReview for gene: SMAD4 was set to AMBER\nAdded comment: A missense with reduced in vitro signalling activity and a putative splice site mutation resulting in moderate transcript loss due to compromised splicing efficiency were identified in two PAH cases. \nSources: Literature","entity_name":"SMAD4","entity_type":"gene"},{"created":"2020-01-28T11:48:40.109135+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.34","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SMAD1 as Amber List (moderate evidence)","entity_name":"SMAD1","entity_type":"gene"},{"created":"2020-01-28T11:48:40.101822+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.34","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: smad1 has been classified as Amber List (Moderate Evidence).","entity_name":"SMAD1","entity_type":"gene"},{"created":"2020-01-28T11:48:16.555196+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.33","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SMAD1 was added\ngene: SMAD1 was added to Pulmonary Arterial Hypertension. Sources: Literature\nMode of inheritance for gene: SMAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SMAD1 were set to 21898662; 23478097\nPhenotypes for gene: SMAD1 were set to Pulmonary arterial hypertension\nReview for gene: SMAD1 was set to AMBER\nAdded comment: One missense variant identified in a PAH case. Mouse model is consistent with pulmonary hypertension. \nSources: Literature","entity_name":"SMAD1","entity_type":"gene"},{"created":"2020-01-28T11:40:57.474303+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: G6PD: Rating: AMBER; Mode of pathogenicity: None; Publications: 31913656, 30161219; Phenotypes: Pulmonary arterial hypertension; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"G6PD","entity_type":"gene"},{"created":"2020-01-28T11:40:08.444517+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"G6PD","entity_type":"gene"},{"created":"2020-01-28T11:39:46.489192+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: G6PD as Amber List (moderate evidence)","entity_name":"G6PD","entity_type":"gene"},{"created":"2020-01-28T11:39:46.482187+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: g6pd has been classified as Amber List (Moderate Evidence).","entity_name":"G6PD","entity_type":"gene"},{"created":"2020-01-28T11:39:31.819234+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: G6PD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"G6PD","entity_type":"gene"},{"created":"2020-01-28T11:38:52.010484+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"gene: G6PD was added\ngene: G6PD was added to Pulmonary Arterial Hypertension. Sources: Literature\nMode of inheritance for gene: G6PD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: G6PD were set to 31913656; 30161219\nPhenotypes for gene: G6PD were set to Pulmonary arterial hypertension\nReview for gene: G6PD was set to AMBER\nAdded comment: One idiopathic PAH case had a missense that resulted in severe G6PD deficiency and another case had a missense associated with a 20% decrease in G6PD function. Inhibition of G6PD activity with a potent G6PD inhibitor, decreased haematopoietic stem cells in hypoxic mice, causing pulmonary hypertension. \nSources: Literature","entity_name":"G6PD","entity_type":"gene"},{"created":"2020-01-28T11:29:25.131836+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"gene: KLF2 was added\ngene: KLF2 was added to Pulmonary Arterial Hypertension. Sources: Literature\nMode of inheritance for gene: KLF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KLF2 were set to 28188237\nPhenotypes for gene: KLF2 were set to Pulmonary arterial hypertension\nReview for gene: KLF2 was set to RED\nAdded comment: A missense variant reported in a single PAH family. \nSources: Literature","entity_name":"KLF2","entity_type":"gene"},{"created":"2020-01-28T11:26:48.912766+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BRAP was added\ngene: BRAP was added to Pulmonary Arterial Hypertension. Sources: Literature\nMode of inheritance for gene: BRAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BRAP were set to 30703135\nPhenotypes for gene: BRAP were set to Pulmonary arterial hypertension\nReview for gene: BRAP was set to AMBER\nAdded comment: A single BRAP missense variant in a Japanese family with PAH, with in vitro functional assays suggesting a gain-of-function. \nSources: Literature","entity_name":"BRAP","entity_type":"gene"},{"created":"2020-01-28T11:20:58.619045+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.27","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ABCC8 as Green List (high evidence)","entity_name":"ABCC8","entity_type":"gene"},{"created":"2020-01-28T11:20:58.612114+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.27","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: abcc8 has been classified as Green List (High Evidence).","entity_name":"ABCC8","entity_type":"gene"},{"created":"2020-01-28T11:20:47.648745+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ABCC8 was added\ngene: ABCC8 was added to Pulmonary Arterial Hypertension. Sources: Literature\nMode of inheritance for gene: ABCC8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ABCC8 were set to 31406341; 30354297\nPhenotypes for gene: ABCC8 were set to Diabetes mellitus; Hypoglycaemia; Pulmonary arterial hypertension\nReview for gene: ABCC8 was set to GREEN\nAdded comment: Twelve heterozygous variants identified in PAH cases. Included functional assessment and independent validation of the association with this gene. \nSources: Literature","entity_name":"ABCC8","entity_type":"gene"},{"created":"2020-01-28T11:09:43.647727+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.25","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SOX17 as Green List (high evidence)","entity_name":"SOX17","entity_type":"gene"},{"created":"2020-01-28T11:09:43.640235+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.25","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: sox17 has been classified as Green List (High Evidence).","entity_name":"SOX17","entity_type":"gene"},{"created":"2020-01-28T11:09:32.954327+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: SOX17: Rating: GREEN; Mode of pathogenicity: None; Publications: 29650961, 31406341; Phenotypes: Vesicoureteral reflux 3 MIM#613674, Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"SOX17","entity_type":"gene"},{"created":"2020-01-28T11:00:56.250709+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GDF2 as Green List (high evidence)","entity_name":"GDF2","entity_type":"gene"},{"created":"2020-01-28T11:00:56.239292+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gdf2 has been classified as Green List (High Evidence).","entity_name":"GDF2","entity_type":"gene"},{"created":"2020-01-28T11:00:47.170789+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: GDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29650961, 31661308; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506, Pulmonary arterial hypertension; Mode of inheritance: None","entity_name":"GDF2","entity_type":"gene"},{"created":"2020-01-28T10:50:05.301974+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ENG as Green List (high evidence)","entity_name":"ENG","entity_type":"gene"},{"created":"2020-01-28T10:50:05.294253+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: eng has been classified as Green List (High Evidence).","entity_name":"ENG","entity_type":"gene"},{"created":"2020-01-28T10:49:51.581023+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30336550; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300, Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"ENG","entity_type":"gene"},{"created":"2020-01-28T10:42:19.438903+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: BMPR1B: Rating: RED; Mode of pathogenicity: Other; Publications: 22374147; Phenotypes: Acromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2, Pulmonary arterial hypertension (PAH); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"BMPR1B","entity_type":"gene"},{"created":"2020-01-28T10:25:45.570918+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATP13A3 as Green List (high evidence)","entity_name":"ATP13A3","entity_type":"gene"}]}