{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1683","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1681","results":[{"created":"2020-08-08T15:50:42.180692+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcs1l has been classified as Green List (High Evidence).","entity_name":"BCS1L","entity_type":"gene"},{"created":"2020-08-08T15:50:28.323458+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BCS1L as Green List (high evidence)","entity_name":"BCS1L","entity_type":"gene"},{"created":"2020-08-08T15:50:28.314839+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcs1l has been classified as Green List (High Evidence).","entity_name":"BCS1L","entity_type":"gene"},{"created":"2020-08-08T15:50:03.080866+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCS1L was added\ngene: BCS1L was added to Cholestasis. Sources: Expert list\nMode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCS1L were set to 12215968\nPhenotypes for gene: BCS1L were set to GRACILE syndrome, MIM#\t603358; Mitochondrial complex III deficiency, nuclear type 1\t, MIM#124000\nReview for gene: BCS1L was set to GREEN\nAdded comment: Founder Finnish variant: p.Ser78Gly is linked to this particular phenotype. Other variants in this gene tend to cause a mitochondrial disorder where cholestasis is also a feature. \nSources: Expert list","entity_name":"BCS1L","entity_type":"gene"},{"created":"2020-08-08T15:45:02.665360+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP7B as ready","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-08-08T15:45:02.654174+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp7b has been classified as Green List (High Evidence).","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-08-08T15:42:31.778492+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP7B were changed from  to Wilson disease, MIM# 277900","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-08-08T15:41:38.396260+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP7B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-08-08T15:41:11.785590+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease, MIM# 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-08-08T15:38:05.854101+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARG1 as ready","entity_name":"ARG1","entity_type":"gene"},{"created":"2020-08-08T15:38:05.843079+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arg1 has been classified as Red List (Low Evidence).","entity_name":"ARG1","entity_type":"gene"},{"created":"2020-08-08T15:38:03.485007+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARG1 were changed from  to Argininemia, MIM# 207800","entity_name":"ARG1","entity_type":"gene"},{"created":"2020-08-08T15:37:49.698342+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARG1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARG1","entity_type":"gene"},{"created":"2020-08-08T15:37:32.332684+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARG1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARG1","entity_type":"gene"},{"created":"2020-08-08T15:37:18.525819+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARG1","entity_type":"gene"},{"created":"2020-08-08T15:36:54.067953+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARG1 as Red List (low evidence)","entity_name":"ARG1","entity_type":"gene"},{"created":"2020-08-08T15:36:54.058392+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arg1 has been classified as Red List (Low Evidence).","entity_name":"ARG1","entity_type":"gene"},{"created":"2020-08-08T15:36:31.363673+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininemia, MIM# 207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARG1","entity_type":"gene"},{"created":"2020-08-08T15:34:06.378033+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2833","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADK as ready","entity_name":"ADK","entity_type":"gene"},{"created":"2020-08-08T15:34:06.368889+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2833","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adk has been classified as Green List (High Evidence).","entity_name":"ADK","entity_type":"gene"},{"created":"2020-08-08T15:34:02.914041+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2833","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADK were changed from  to Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300","entity_name":"ADK","entity_type":"gene"},{"created":"2020-08-08T15:33:44.023972+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2832","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADK were set to ","entity_name":"ADK","entity_type":"gene"},{"created":"2020-08-08T15:33:16.124608+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2831","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADK","entity_type":"gene"},{"created":"2020-08-08T15:32:46.821262+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2830","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADK: Rating: GREEN; Mode of pathogenicity: None; Publications: 21963049, 17120046; Phenotypes: Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADK","entity_type":"gene"},{"created":"2020-08-08T15:31:46.653307+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3731","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADK as ready","entity_name":"ADK","entity_type":"gene"},{"created":"2020-08-08T15:31:46.644485+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3731","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adk has been classified as Green List (High Evidence).","entity_name":"ADK","entity_type":"gene"},{"created":"2020-08-08T15:31:40.087778+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3731","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADK were changed from  to Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300","entity_name":"ADK","entity_type":"gene"},{"created":"2020-08-08T15:31:24.176550+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3730","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADK were set to ","entity_name":"ADK","entity_type":"gene"},{"created":"2020-08-08T15:31:06.308386+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3729","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADK","entity_type":"gene"},{"created":"2020-08-08T15:30:47.546262+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3728","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADK: Rating: GREEN; Mode of pathogenicity: None; Publications: 21963049, 17120046; Phenotypes: Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADK","entity_type":"gene"},{"created":"2020-08-08T15:30:10.120083+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADK as ready","entity_name":"ADK","entity_type":"gene"},{"created":"2020-08-08T15:30:10.109308+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adk has been classified as Red List (Low Evidence).","entity_name":"ADK","entity_type":"gene"},{"created":"2020-08-08T15:29:58.750898+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADK were changed from  to Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300","entity_name":"ADK","entity_type":"gene"},{"created":"2020-08-08T15:29:32.369460+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADK were set to ","entity_name":"ADK","entity_type":"gene"},{"created":"2020-08-08T15:29:10.889503+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADK","entity_type":"gene"},{"created":"2020-08-08T15:28:51.344271+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADK as Red List (low evidence)","entity_name":"ADK","entity_type":"gene"},{"created":"2020-08-08T15:28:51.336075+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adk has been classified as Red List (Low Evidence).","entity_name":"ADK","entity_type":"gene"},{"created":"2020-08-08T15:28:29.103462+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADK: Rating: RED; Mode of pathogenicity: None; Publications: 21963049, 17120046; Phenotypes: Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADK","entity_type":"gene"},{"created":"2020-08-08T15:20:23.541793+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCG8 as ready","entity_name":"ABCG8","entity_type":"gene"},{"created":"2020-08-08T15:20:23.523583+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcg8 has been classified as Red List (Low Evidence).","entity_name":"ABCG8","entity_type":"gene"},{"created":"2020-08-08T15:20:20.610003+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCG8 were changed from  to Sitosterolemia 1, MIM# 210250","entity_name":"ABCG8","entity_type":"gene"},{"created":"2020-08-08T15:19:57.473786+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABCG8 were set to ","entity_name":"ABCG8","entity_type":"gene"},{"created":"2020-08-08T15:19:24.885323+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABCG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCG8","entity_type":"gene"},{"created":"2020-08-08T15:18:58.497573+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABCG8 as Red List (low evidence)","entity_name":"ABCG8","entity_type":"gene"},{"created":"2020-08-08T15:18:58.487501+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcg8 has been classified as Red List (Low Evidence).","entity_name":"ABCG8","entity_type":"gene"},{"created":"2020-08-08T15:18:24.683250+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCG8: Rating: RED; Mode of pathogenicity: None; Publications: 18441155; Phenotypes: Sitosterolemia 1, MIM# 210250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCG8","entity_type":"gene"},{"created":"2020-08-08T15:17:00.463118+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCG5 as ready","entity_name":"ABCG5","entity_type":"gene"},{"created":"2020-08-08T15:17:00.446490+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcg5 has been classified as Red List (Low Evidence).","entity_name":"ABCG5","entity_type":"gene"},{"created":"2020-08-08T15:16:55.118552+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCG5 were changed from  to Sitosterolemia 2, MIM# 618666","entity_name":"ABCG5","entity_type":"gene"},{"created":"2020-08-08T15:16:28.517562+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABCG5 were set to ","entity_name":"ABCG5","entity_type":"gene"},{"created":"2020-08-08T15:16:04.536440+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABCG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCG5","entity_type":"gene"},{"created":"2020-08-08T15:15:23.278328+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABCG5 as Red List (low evidence)","entity_name":"ABCG5","entity_type":"gene"},{"created":"2020-08-08T15:15:23.270028+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcg5 has been classified as Red List (Low Evidence).","entity_name":"ABCG5","entity_type":"gene"},{"created":"2020-08-08T15:15:01.624194+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCG5: Rating: RED; Mode of pathogenicity: None; Publications: 18441155; Phenotypes: Sitosterolemia 2, MIM# 618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCG5","entity_type":"gene"},{"created":"2020-08-08T15:01:02.701800+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-08-08T14:59:01.320799+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-08-08T14:56:01.086506+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OCRL as ready","entity_name":"OCRL","entity_type":"gene"},{"created":"2020-08-08T14:56:01.073182+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ocrl has been classified as Green List (High Evidence).","entity_name":"OCRL","entity_type":"gene"},{"created":"2020-08-08T14:55:55.074125+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OCRL were changed from  to Lowe syndrome, MIM# 309000","entity_name":"OCRL","entity_type":"gene"},{"created":"2020-08-08T14:55:32.837343+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OCRL were set to ","entity_name":"OCRL","entity_type":"gene"},{"created":"2020-08-08T14:55:13.404196+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OCRL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OCRL","entity_type":"gene"},{"created":"2020-08-08T14:54:44.590522+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19773212; Phenotypes: Lowe syndrome, MIM# 309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OCRL","entity_type":"gene"},{"created":"2020-08-08T14:51:55.618231+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAM20C as ready","entity_name":"FAM20C","entity_type":"gene"},{"created":"2020-08-08T14:51:55.607852+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam20c has been classified as Green List (High Evidence).","entity_name":"FAM20C","entity_type":"gene"},{"created":"2020-08-08T14:51:50.947644+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FAM20C as Green List (high evidence)","entity_name":"FAM20C","entity_type":"gene"},{"created":"2020-08-08T14:51:50.938718+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam20c has been classified as Green List (High Evidence).","entity_name":"FAM20C","entity_type":"gene"},{"created":"2020-08-08T14:51:28.611157+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FAM20C was added\ngene: FAM20C was added to Hypophosphataemic Rickets. Sources: Expert list\nMode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAM20C were set to Raine syndrome, MIM#\t259775\nReview for gene: FAM20C was set to GREEN\nAdded comment: Severe skeletal dysplasia where low phosphate is a feature. \nSources: Expert list","entity_name":"FAM20C","entity_type":"gene"},{"created":"2020-08-08T14:46:36.506029+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tyrosinemia, type I, MIM# 276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FAH","entity_type":"gene"},{"created":"2020-08-08T14:42:59.712108+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3728","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SGK3 was added\ngene: SGK3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SGK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SGK3 were set to 31821448\nPhenotypes for gene: SGK3 were set to Hypophosphatemic rickets\nReview for gene: SGK3 was set to RED\nAdded comment: 5 individuals from one family where a splice site variant segregated with disease. \nSources: Literature","entity_name":"SGK3","entity_type":"gene"},{"created":"2020-08-08T14:41:34.249940+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SGK3 was added\ngene: SGK3 was added to Hypophosphataemic Rickets. Sources: Literature\nMode of inheritance for gene: SGK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SGK3 were set to 31821448\nPhenotypes for gene: SGK3 were set to Hypophosphatemic rickets\nReview for gene: SGK3 was set to RED\nAdded comment: 5 individuals from one family where a splice site variant segregated with disease. \nSources: Literature","entity_name":"SGK3","entity_type":"gene"},{"created":"2020-08-08T14:39:02.411317+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLCN5 as ready","entity_name":"CLCN5","entity_type":"gene"},{"created":"2020-08-08T14:39:02.400245+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clcn5 has been classified as Amber List (Moderate Evidence).","entity_name":"CLCN5","entity_type":"gene"},{"created":"2020-08-08T14:38:59.669698+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLCN5 were changed from  to Hypophosphatemic rickets, MIM# 300554","entity_name":"CLCN5","entity_type":"gene"},{"created":"2020-08-08T14:38:38.712208+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLCN5 were set to ","entity_name":"CLCN5","entity_type":"gene"},{"created":"2020-08-08T14:38:17.740035+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CLCN5 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"CLCN5","entity_type":"gene"},{"created":"2020-08-08T14:37:53.220190+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CLCN5 as Amber List (moderate evidence)","entity_name":"CLCN5","entity_type":"gene"},{"created":"2020-08-08T14:37:53.211954+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clcn5 has been classified as Amber List (Moderate Evidence).","entity_name":"CLCN5","entity_type":"gene"},{"created":"2020-08-08T14:37:31.774815+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLCN5: Rating: AMBER; Mode of pathogenicity: None; Publications: 8559248, 9596078; Phenotypes: Hypophosphatemic rickets, MIM# 300554; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"CLCN5","entity_type":"gene"},{"created":"2020-08-08T13:15:40.784699+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALPL as ready","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-08-08T13:15:40.776220+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpl has been classified as Green List (High Evidence).","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-08-08T13:15:37.876960+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALPL were changed from  to Hypophosphatasia, infantile, MIM# 241500","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-08-08T13:15:08.570878+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-08-08T13:14:41.313772+10:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatasia, infantile, MIM# 241500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-08-08T13:02:05.281309+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WDR81 as ready","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-08-08T13:02:05.270955+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr81 has been classified as Amber List (Moderate Evidence).","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-08-08T13:02:01.178182+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WDR81 as Amber List (moderate evidence)","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-08-08T13:02:01.169002+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr81 has been classified as Amber List (Moderate Evidence).","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-08-08T13:01:39.680471+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WDR81 were changed from Hydrcephalus to Hydrocephalus","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-08-08T13:01:22.066576+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WDR81 as Amber List (moderate evidence)","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-08-08T13:01:22.056720+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr81 has been classified as Amber List (Moderate Evidence).","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-08-08T13:00:56.776906+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WDR81 was added\ngene: WDR81 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list\nMode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR81 were set to 28556411\nPhenotypes for gene: WDR81 were set to Hydrcephalus\nReview for gene: WDR81 was set to AMBER\nAdded comment: WDR81 variants reported in 2 families with severe congenital hydrocephalus (PMID 28556411):\r\nFamily 13 is a consanguineous couple who lost 2 pregnancies with severe hydrocephalus and cerebellar hypoplasia: a homozygous truncating mutation was identified in WDR81 (NM_001163809.1: c.3286C>T, p. [Gln1096*]).\r\nFamily 26 consists of a consanguineous couple with history of stillburth with massive hydrocephalus and absent cerebellum and a male neonate with severe hydrocephalus and Dandy–Walker malformation. A homozygous missense variant in WDR81 was identified (NM_001163809.1:c.845G>A, p. [Gly282Glu]). \nSources: Expert list","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-08-08T12:54:29.848276+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TNFRSF11A as ready","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2020-08-08T12:54:29.835697+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnfrsf11a has been classified as Green List (High Evidence).","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2020-08-08T12:54:27.042084+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TNFRSF11A were changed from  to Osteopetrosis, autosomal recessive 7, MIM# 612301","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2020-08-08T12:54:03.009398+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TNFRSF11A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2020-08-08T12:53:40.032949+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 7, MIM# 612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2020-08-08T12:51:26.628232+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCIRG1 as ready","entity_name":"TCIRG1","entity_type":"gene"},{"created":"2020-08-08T12:51:26.618857+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tcirg1 has been classified as Green List (High Evidence).","entity_name":"TCIRG1","entity_type":"gene"},{"created":"2020-08-08T12:51:24.098609+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCIRG1 were changed from  to Osteopetrosis, autosomal recessive 1, MIM# 259700","entity_name":"TCIRG1","entity_type":"gene"},{"created":"2020-08-08T12:50:59.842623+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCIRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCIRG1","entity_type":"gene"}]}