{"count":220314,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=852","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=850","results":[{"created":"2022-05-06T17:09:33.981446+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13885","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DCLRE1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19953608, 15699179, 12055248, 34220820; Phenotypes: Severe combined immunodeficiency, Athabascan type MIM# 602450, Omenn syndrome, MIM# 603554; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DCLRE1C","entity_type":"gene"},{"created":"2022-05-06T17:09:18.241378+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13885","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ARCN1 as ready","entity_name":"ARCN1","entity_type":"gene"},{"created":"2022-05-06T17:09:18.229925+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13885","user_name":"Elena Savva","item_type":"entity","text":"Gene: arcn1 has been classified as Green List (High Evidence).","entity_name":"ARCN1","entity_type":"gene"},{"created":"2022-05-06T17:07:29.115146+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4759","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCHS1 as ready","entity_name":"DCHS1","entity_type":"gene"},{"created":"2022-05-06T17:07:29.105755+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4759","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dchs1 has been classified as Green List (High Evidence).","entity_name":"DCHS1","entity_type":"gene"},{"created":"2022-05-06T17:07:23.654319+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4759","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DCHS1 were changed from  to Van Maldergem syndrome 1, MIM# 601390","entity_name":"DCHS1","entity_type":"gene"},{"created":"2022-05-06T17:06:47.309077+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4758","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DCHS1 were set to ","entity_name":"DCHS1","entity_type":"gene"},{"created":"2022-05-06T17:06:05.733350+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4757","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DCHS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DCHS1","entity_type":"gene"},{"created":"2022-05-06T17:05:40.548101+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13885","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: APPL1 were changed from Maturity-onset diabetes of the young, type 14 MIM#616511 to Maturity-onset diabetes of the young, type 14 MIM#616511","entity_name":"APPL1","entity_type":"gene"},{"created":"2022-05-06T17:05:37.057513+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13885","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: APPL1 were changed from Maturity-onset diabetes of the young, type 14 MIM#616511 to Maturity-onset diabetes of the young, type 14 MIM#616511","entity_name":"APPL1","entity_type":"gene"},{"created":"2022-05-06T17:05:19.783776+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4756","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DCHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27262615, 22473091, 24056717, 29046692; Phenotypes: Van Maldergem syndrome 1, MIM# 601390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DCHS1","entity_type":"gene"},{"created":"2022-05-06T17:04:12.803343+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13884","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCHS1 as ready","entity_name":"DCHS1","entity_type":"gene"},{"created":"2022-05-06T17:04:12.791264+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13884","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dchs1 has been classified as Green List (High Evidence).","entity_name":"DCHS1","entity_type":"gene"},{"created":"2022-05-06T17:03:54.159877+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13884","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DCHS1 were changed from  to Van Maldergem syndrome 1, MIM# 601390","entity_name":"DCHS1","entity_type":"gene"},{"created":"2022-05-06T17:03:32.663971+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13883","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DCHS1 were set to ","entity_name":"DCHS1","entity_type":"gene"},{"created":"2022-05-06T17:03:06.128052+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13882","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DCHS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DCHS1","entity_type":"gene"},{"created":"2022-05-06T17:02:48.743313+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13881","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: APPL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"APPL1","entity_type":"gene"},{"created":"2022-05-06T17:02:37.890547+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13881","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DCHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27262615, 22473091, 24056717, 29046692; Phenotypes: Van Maldergem syndrome 1, MIM# 601390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DCHS1","entity_type":"gene"},{"created":"2022-05-06T17:02:37.174597+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13881","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: APPL1 as Amber List (moderate evidence)","entity_name":"APPL1","entity_type":"gene"},{"created":"2022-05-06T17:02:37.165582+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13881","user_name":"Elena Savva","item_type":"entity","text":"Gene: appl1 has been classified as Amber List (Moderate Evidence).","entity_name":"APPL1","entity_type":"gene"},{"created":"2022-05-06T17:01:56.177928+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13880","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: APPL1 were changed from  to Maturity-onset diabetes of the young, type 14 MIM#616511","entity_name":"APPL1","entity_type":"gene"},{"created":"2022-05-06T17:01:52.686531+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13880","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: APPL1 were set to ","entity_name":"APPL1","entity_type":"gene"},{"created":"2022-05-06T17:01:41.181971+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13880","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: APPL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"APPL1","entity_type":"gene"},{"created":"2022-05-06T17:01:34.376745+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13880","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: APPL1 as Amber List (moderate evidence)","entity_name":"APPL1","entity_type":"gene"},{"created":"2022-05-06T17:01:34.363367+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13880","user_name":"Elena Savva","item_type":"entity","text":"Gene: appl1 has been classified as Amber List (Moderate Evidence).","entity_name":"APPL1","entity_type":"gene"},{"created":"2022-05-06T17:01:21.795083+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13879","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: APPL1 as ready","entity_name":"APPL1","entity_type":"gene"},{"created":"2022-05-06T17:01:21.767470+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13879","user_name":"Elena Savva","item_type":"entity","text":"Gene: appl1 has been classified as Green List (High Evidence).","entity_name":"APPL1","entity_type":"gene"},{"created":"2022-05-06T16:51:34.029292+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13879","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: AQP1 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension","entity_name":"AQP1","entity_type":"gene"},{"created":"2022-05-06T16:51:28.180863+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13879","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: AQP1 were set to PMID:22683574; 29650961","entity_name":"AQP1","entity_type":"gene"},{"created":"2022-05-06T16:48:06.725551+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13878","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: APRT as ready","entity_name":"APRT","entity_type":"gene"},{"created":"2022-05-06T16:48:06.714114+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13878","user_name":"Elena Savva","item_type":"entity","text":"Gene: aprt has been classified as Green List (High Evidence).","entity_name":"APRT","entity_type":"gene"},{"created":"2022-05-06T16:47:09.571468+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13878","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: AQP1 were changed from  to Pulmonary arterial hypertension","entity_name":"AQP1","entity_type":"gene"},{"created":"2022-05-06T16:46:56.276369+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13877","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: AQP1 were set to ","entity_name":"AQP1","entity_type":"gene"},{"created":"2022-05-06T16:46:51.788252+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13877","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: AQP1 as ready","entity_name":"AQP1","entity_type":"gene"},{"created":"2022-05-06T16:46:51.775031+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13877","user_name":"Elena Savva","item_type":"entity","text":"Gene: aqp1 has been classified as Green List (High Evidence).","entity_name":"AQP1","entity_type":"gene"},{"created":"2022-05-06T16:46:48.217999+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13877","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: AQP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"AQP1","entity_type":"gene"},{"created":"2022-05-06T16:43:52.172960+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13876","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: APRT were changed from  to Adenine phosphoribosyltransferase deficiency MIM#614723","entity_name":"APRT","entity_type":"gene"},{"created":"2022-05-06T16:43:32.409565+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13875","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: AQP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:22683574, 29650961; Phenotypes: Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"AQP1","entity_type":"gene"},{"created":"2022-05-06T16:35:21.455055+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13875","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: APRT were set to ","entity_name":"APRT","entity_type":"gene"},{"created":"2022-05-06T16:35:10.628056+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13874","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: APRT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"APRT","entity_type":"gene"},{"created":"2022-05-06T16:34:54.591563+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13873","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: APOC4-APOC2 as ready","entity_name":"APOC4-APOC2","entity_type":"gene"},{"created":"2022-05-06T16:34:54.579940+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13873","user_name":"Elena Savva","item_type":"entity","text":"Gene: apoc4-apoc2 has been classified as Red List (Low Evidence).","entity_name":"APOC4-APOC2","entity_type":"gene"},{"created":"2022-05-06T15:11:03.548417+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13873","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: APOC4-APOC2 were set to ","entity_name":"APOC4-APOC2","entity_type":"gene"},{"created":"2022-05-06T15:10:56.598768+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13873","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: APOC4-APOC2 as Red List (low evidence)","entity_name":"APOC4-APOC2","entity_type":"gene"},{"created":"2022-05-06T15:10:56.587720+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13873","user_name":"Elena Savva","item_type":"entity","text":"Gene: apoc4-apoc2 has been classified as Red List (Low Evidence).","entity_name":"APOC4-APOC2","entity_type":"gene"},{"created":"2022-05-06T15:10:41.884901+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13872","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: APRT: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 3680503, 2227934, 7915931, 1353080; Phenotypes: Adenine phosphoribosyltransferase deficiency MIM#614723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"APRT","entity_type":"gene"},{"created":"2022-05-06T15:02:39.843017+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13872","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: APOC2 were changed from Hyperlipoproteinemia, type Ib MIM#207750 to Hyperlipoproteinemia, type Ib MIM#207750","entity_name":"APOC2","entity_type":"gene"},{"created":"2022-05-06T15:01:58.237257+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13871","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: APOC4-APOC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31034468; Phenotypes: ; Mode of inheritance: None","entity_name":"APOC4-APOC2","entity_type":"gene"},{"created":"2022-05-06T14:59:50.068132+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13871","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: APOC2 were changed from  to Hyperlipoproteinemia, type Ib MIM#207750","entity_name":"APOC2","entity_type":"gene"},{"created":"2022-05-06T14:59:46.454452+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13870","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: APOC2 as ready","entity_name":"APOC2","entity_type":"gene"},{"created":"2022-05-06T14:59:46.443027+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13870","user_name":"Elena Savva","item_type":"entity","text":"Gene: apoc2 has been classified as Green List (High Evidence).","entity_name":"APOC2","entity_type":"gene"},{"created":"2022-05-06T14:58:19.850758+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13870","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: APOC3 were set to PMID: 19074352","entity_name":"APOC3","entity_type":"gene"},{"created":"2022-05-06T14:56:26.113304+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13869","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: APOC2 were set to ","entity_name":"APOC2","entity_type":"gene"},{"created":"2022-05-06T14:56:20.456268+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13869","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: APOC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"APOC2","entity_type":"gene"},{"created":"2022-05-06T14:55:02.389819+10:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.34","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: APOC2 were changed from Hyperlipoproteinemia, type Ib\tMIM#207750 to Hyperlipoproteinemia, type Ib\tMIM#207750","entity_name":"APOC2","entity_type":"gene"},{"created":"2022-05-06T14:54:47.071829+10:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.33","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: APOC2 were changed from Hyperlipoproteinemia, type Ib to Hyperlipoproteinemia, type Ib\tMIM#207750","entity_name":"APOC2","entity_type":"gene"},{"created":"2022-05-06T14:54:46.870886+10:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.32","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: APOC2 as ready","entity_name":"APOC2","entity_type":"gene"},{"created":"2022-05-06T14:54:46.860042+10:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.32","user_name":"Elena Savva","item_type":"entity","text":"Gene: apoc2 has been classified as Green List (High Evidence).","entity_name":"APOC2","entity_type":"gene"},{"created":"2022-05-06T14:54:39.676589+10:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.32","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: APOC2 were set to ","entity_name":"APOC2","entity_type":"gene"},{"created":"2022-05-06T14:53:43.071811+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13868","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: APOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32562799, 26044956, 32292609, 32280258; Phenotypes: Hyperlipoproteinemia, type Ib MIM#207750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"APOC2","entity_type":"gene"},{"created":"2022-05-06T14:53:40.588429+10:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.31","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: APOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32562799, 26044956, 32292609, 32280258; Phenotypes: Hyperlipoproteinemia, type Ib MIM#207750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"APOC2","entity_type":"gene"},{"created":"2022-05-06T14:53:29.777574+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13868","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: APOC3 were set to ","entity_name":"APOC3","entity_type":"gene"},{"created":"2022-05-06T14:53:27.292949+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13868","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: APOC3 as ready","entity_name":"APOC3","entity_type":"gene"},{"created":"2022-05-06T14:53:27.282881+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13868","user_name":"Elena Savva","item_type":"entity","text":"Gene: apoc3 has been classified as Red List (Low Evidence).","entity_name":"APOC3","entity_type":"gene"},{"created":"2022-05-06T14:53:26.897024+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13868","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: APOC3 were changed from  to Apolipoprotein C-III deficiency MIM#614028","entity_name":"APOC3","entity_type":"gene"},{"created":"2022-05-06T14:47:22.260038+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13867","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: APOC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"APOC3","entity_type":"gene"},{"created":"2022-05-06T14:47:15.768871+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13866","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: APOC3 as Red List (low evidence)","entity_name":"APOC3","entity_type":"gene"},{"created":"2022-05-06T14:47:15.748139+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13866","user_name":"Elena Savva","item_type":"entity","text":"Gene: apoc3 has been classified as Red List (Low Evidence).","entity_name":"APOC3","entity_type":"gene"},{"created":"2022-05-06T14:45:16.280998+10:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.31","user_name":"Elena Savva","item_type":"entity","text":"changed review comment from: PMID: 19074352 - p.19* is found at 5% frequency within the Old Amish subpopulation with lower fasting and postprandial serum triglycerides, higher levels of HDL-cholesterol and lower levels of LDL-cholesterol. \r\nCurrently in ClinVar as 1x path, 2x likely benign (most recent)\r\n\r\nClinVar: 2 missense variants, submissions >30 years old.; to: PMID: 19074352 - p.19* is found at 5% frequency within the Old Amish subpopulation with lower fasting and postprandial serum triglycerides, higher levels of HDL-cholesterol and lower levels of LDL-cholesterol. \r\nCurrently in ClinVar as 1x path, 2x likely benign (most recent)\r\n\r\nClinVar: 2 missense variants, submissions >30 years old.","entity_name":"APOC3","entity_type":"gene"},{"created":"2022-05-06T14:44:55.914628+10:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.31","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: APOC3 as ready","entity_name":"APOC3","entity_type":"gene"},{"created":"2022-05-06T14:44:55.903133+10:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.31","user_name":"Elena Savva","item_type":"entity","text":"Gene: apoc3 has been classified as Red List (Low Evidence).","entity_name":"APOC3","entity_type":"gene"},{"created":"2022-05-06T14:44:53.433009+10:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.31","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: APOC3 were changed from Apolipoprotein C-III deficiency to Apolipoprotein C-III deficiency MIM#614028","entity_name":"APOC3","entity_type":"gene"},{"created":"2022-05-06T14:44:39.770765+10:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.30","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: APOC3 were set to ","entity_name":"APOC3","entity_type":"gene"},{"created":"2022-05-06T14:44:38.005851+10:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.30","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: APOC3 as Red List (low evidence)","entity_name":"APOC3","entity_type":"gene"},{"created":"2022-05-06T14:44:37.978176+10:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.30","user_name":"Elena Savva","item_type":"entity","text":"Gene: apoc3 has been classified as Red List (Low Evidence).","entity_name":"APOC3","entity_type":"gene"},{"created":"2022-05-06T14:42:48.761910+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13865","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: APOC3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 19074352; Phenotypes: Apolipoprotein C-III deficiency MIM#614028; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"APOC3","entity_type":"gene"},{"created":"2022-05-06T14:42:47.173151+10:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.29","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: APOC3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 19074352; Phenotypes: PMID: 19074352; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"APOC3","entity_type":"gene"},{"created":"2022-05-06T14:32:33.507543+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13865","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ANXA5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17339269, 12665588, 34878150; Phenotypes: {Pregnancy loss, recurrent, susceptibility to, 3} MIM#614391; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"ANXA5","entity_type":"gene"},{"created":"2022-05-06T11:10:50.476523+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4756","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTL6B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ACTL6B","entity_type":"gene"},{"created":"2022-05-06T11:10:15.344600+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4755","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ACTL6B: Changed phenotypes: Epileptic encephalopathy, early infantile, 76, MIM# 618468, Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ACTL6B","entity_type":"gene"},{"created":"2022-05-06T11:09:59.292858+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1592","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTL6B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ACTL6B","entity_type":"gene"},{"created":"2022-05-06T11:09:20.223731+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1591","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ACTL6B: Changed phenotypes: Epileptic encephalopathy, early infantile, 76, MIM# 618468, Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ACTL6B","entity_type":"gene"},{"created":"2022-05-06T11:08:58.716655+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13865","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTL6B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ACTL6B","entity_type":"gene"},{"created":"2022-05-06T11:08:26.753227+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTL6B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTL6B","entity_type":"gene"},{"created":"2022-05-06T11:07:55.365775+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ACTL6B: Changed phenotypes: Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTL6B","entity_type":"gene"},{"created":"2022-05-06T11:07:24.144733+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13864","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ACTL6B: Changed phenotypes: Epileptic encephalopathy, early infantile, 76, MIM# 618468, Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ACTL6B","entity_type":"gene"},{"created":"2022-05-06T10:40:53.392700+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.269","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CCDC50 were changed from childhood onset deafness, progressive to Deafness, autosomal dominant 44 , MIM# 607453","entity_name":"CCDC50","entity_type":"gene"},{"created":"2022-05-06T10:40:39.587802+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CCDC50 were set to ","entity_name":"CCDC50","entity_type":"gene"},{"created":"2022-05-06T10:40:25.943046+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.267","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CCDC50 as Red List (low evidence)","entity_name":"CCDC50","entity_type":"gene"},{"created":"2022-05-06T10:40:25.933634+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.267","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc50 has been classified as Red List (Low Evidence).","entity_name":"CCDC50","entity_type":"gene"},{"created":"2022-05-06T10:40:06.945016+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.266","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CCDC50: Rating: RED; Mode of pathogenicity: None; Publications: 17503326, 27911912, 24875298; Phenotypes: Deafness, autosomal dominant 44 , MIM# 607453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CCDC50","entity_type":"gene"},{"created":"2022-05-06T10:39:05.803980+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.130","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CCDC50 as Amber List (moderate evidence)","entity_name":"CCDC50","entity_type":"gene"},{"created":"2022-05-06T10:39:05.791819+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc50 has been classified as Amber List (Moderate Evidence).","entity_name":"CCDC50","entity_type":"gene"},{"created":"2022-05-06T10:38:10.269812+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.129","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CCDC50: Added comment: PMID 24875298 reviewed: Segregation in 4 individuals in one family with deafness. However, p.Arg76His is present in 75 hets in gnomad.; Changed rating: AMBER; Changed publications: 24875298; Changed phenotypes: Deafness, autosomal dominant 44 , MIM# 607453; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CCDC50","entity_type":"gene"},{"created":"2022-05-06T10:37:13.520647+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13864","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CCDC50 were set to 17503326; 27911912","entity_name":"CCDC50","entity_type":"gene"},{"created":"2022-05-06T10:36:48.402155+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13863","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CCDC50 as Amber List (moderate evidence)","entity_name":"CCDC50","entity_type":"gene"},{"created":"2022-05-06T10:36:48.393177+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13863","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc50 has been classified as Amber List (Moderate Evidence).","entity_name":"CCDC50","entity_type":"gene"},{"created":"2022-05-06T10:36:26.432312+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13862","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CCDC50: Rating: AMBER; Mode of pathogenicity: None; Publications: 17503326, 27911912, 24875298; Phenotypes: Deafness, autosomal dominant 44 MIM#607453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CCDC50","entity_type":"gene"},{"created":"2022-05-06T09:57:47.846477+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAPKAPK5 were changed from Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic to Neurocardiofaciodigital syndrome, MIM# 619869","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2022-05-06T09:57:32.318917+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAPKAPK5: Changed phenotypes: Neurocardiofaciodigital syndrome, MIM# 619869","entity_name":"MAPKAPK5","entity_type":"gene"}]}