{"count":220314,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=897","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=895","results":[{"created":"2022-04-04T15:03:52.128566+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12534","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: ETFA were changed from  to multiple acyl-CoA dehydrogenase deficiency MONDO:0009282","entity_name":"ETFA","entity_type":"gene"},{"created":"2022-04-04T15:01:57.356754+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12533","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: AMPD3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 8004104, 11139257, 24940686; Phenotypes: [AMP deaminase deficiency, erythrocytic] MIM#612874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AMPD3","entity_type":"gene"},{"created":"2022-04-04T15:01:39.897041+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12533","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ERLIN2 as ready","entity_name":"ERLIN2","entity_type":"gene"},{"created":"2022-04-04T15:01:39.881577+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12533","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: erlin2 has been classified as Green List (High Evidence).","entity_name":"ERLIN2","entity_type":"gene"},{"created":"2022-04-04T15:01:34.542560+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12533","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ETFA were set to ","entity_name":"ETFA","entity_type":"gene"},{"created":"2022-04-04T14:59:20.920689+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12532","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CATSPER1: Rating: ; Mode of pathogenicity: None; Publications: 19344877, 25457194, 19210926; Phenotypes: Spermatogenic failure 7 MIM#612997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CATSPER1","entity_type":"gene"},{"created":"2022-04-04T14:56:11.221805+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12532","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSHB as ready","entity_name":"TSHB","entity_type":"gene"},{"created":"2022-04-04T14:56:11.206133+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12532","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tshb has been classified as Green List (High Evidence).","entity_name":"TSHB","entity_type":"gene"},{"created":"2022-04-04T14:55:57.109695+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12532","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: ETFA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ETFA","entity_type":"gene"},{"created":"2022-04-04T14:55:52.641202+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12532","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSHB were changed from  to Hypothyroidism, congenital, nongoitrous 4, MIM# 275100","entity_name":"TSHB","entity_type":"gene"},{"created":"2022-04-04T14:55:38.151384+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12531","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: ERLIN2 were changed from  to hereditary spastic paraplegia 18 MONDO:0012639","entity_name":"ERLIN2","entity_type":"gene"},{"created":"2022-04-04T14:55:29.079756+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12530","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TSHB were set to ","entity_name":"TSHB","entity_type":"gene"},{"created":"2022-04-04T14:55:07.518514+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12529","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TSHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSHB","entity_type":"gene"},{"created":"2022-04-04T14:54:38.407191+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12528","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, congenital, nongoitrous 4, MIM# 275100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSHB","entity_type":"gene"},{"created":"2022-04-04T14:53:03.322807+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12528","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSHR as ready","entity_name":"TSHR","entity_type":"gene"},{"created":"2022-04-04T14:53:03.311958+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12528","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tshr has been classified as Green List (High Evidence).","entity_name":"TSHR","entity_type":"gene"},{"created":"2022-04-04T14:51:24.864333+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12528","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSHR were changed from  to Hyperthyroidism, familial gestational, MIM # 603373, MONDO:0011309; Hyperthyroidism, nonautoimmune, MIM# 609152; Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200, MONDO:0000045","entity_name":"TSHR","entity_type":"gene"},{"created":"2022-04-04T14:51:04.558866+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12527","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TSHR were set to ","entity_name":"TSHR","entity_type":"gene"},{"created":"2022-04-04T14:50:25.635730+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12526","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TSHR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TSHR","entity_type":"gene"},{"created":"2022-04-04T14:49:30.888215+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: TSPAN7.","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-04-04T14:49:20.899938+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TSPAN7: Rating: RED; Mode of pathogenicity: None; Publications: 10449641, 12070254, 10655063, 25081361; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-04-04T14:49:08.614184+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12525","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: 1430199, 1882842, 21347544; Phenotypes: multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ETFA","entity_type":"gene"},{"created":"2022-04-04T14:48:17.851320+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4652","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSPAN7 as ready","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-04-04T14:48:17.836701+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4652","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tspan7 has been classified as Amber List (Moderate Evidence).","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-04-04T14:48:13.752426+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4652","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSPAN7 were changed from  to Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-04-04T14:47:37.941682+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4651","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TSPAN7 were set to ","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-04-04T14:45:47.584938+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4650","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TSPAN7 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-04-04T14:44:08.915474+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12525","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CAT as ready","entity_name":"CAT","entity_type":"gene"},{"created":"2022-04-04T14:44:08.903979+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12525","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cat has been classified as Green List (High Evidence).","entity_name":"CAT","entity_type":"gene"},{"created":"2022-04-04T14:44:02.376275+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12525","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CAT were changed from  to Acatalasemia MIM#614097; hypocatalasemia","entity_name":"CAT","entity_type":"gene"},{"created":"2022-04-04T14:43:59.102486+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12525","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CAT were set to ","entity_name":"CAT","entity_type":"gene"},{"created":"2022-04-04T14:43:40.346263+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12525","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CAT was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"CAT","entity_type":"gene"},{"created":"2022-04-04T14:43:26.492539+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4649","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TSPAN7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-04-04T14:43:12.318088+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12524","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 24025477; Phenotypes: Acatalasemia MIM#614097, hypocatalasemia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CAT","entity_type":"gene"},{"created":"2022-04-04T14:42:49.029266+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4648","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TSPAN7 as Amber List (moderate evidence)","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-04-04T14:42:49.020224+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4648","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tspan7 has been classified as Amber List (Moderate Evidence).","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-04-04T14:42:16.032635+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4647","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TSPAN7: Rating: AMBER; Mode of pathogenicity: None; Publications: 10449641, 12070254, 10655063, 25081361; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-04-04T14:41:46.259138+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12524","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ERLIN2 were set to ","entity_name":"ERLIN2","entity_type":"gene"},{"created":"2022-04-04T14:41:06.834762+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12523","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSPAN7 as ready","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-04-04T14:41:06.822529+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12523","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tspan7 has been classified as Amber List (Moderate Evidence).","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-04-04T14:40:55.769613+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12523","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSPAN7 were changed from  to Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-04-04T14:40:33.615687+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12522","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TSPAN7 were set to ","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-04-04T14:40:12.338091+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12521","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TSPAN7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-04-04T14:38:59.560546+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12520","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TSPAN7 as Amber List (moderate evidence)","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-04-04T14:38:59.531850+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12520","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tspan7 has been classified as Amber List (Moderate Evidence).","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-04-04T14:38:40.997612+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12519","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: The P172H missense, which is reported in two families, is present at a high frequency in gnomad, including 66 hemizygotes.; to: The P172H missense, which is reported in two families, is present at a high frequency in gnomad, including 66 hemizygotes.\r\n\r\nMost variants in ClinVar are either VOUS or LB.","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-04-04T14:37:36.009878+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12519","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TSPAN7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-04-04T14:26:16.512979+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12519","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: ERLIN2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"ERLIN2","entity_type":"gene"},{"created":"2022-04-04T14:22:39.673501+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12518","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23109145, 21330303, 21796390, 29528531, 32094424, 34734492; Phenotypes: hereditary spastic paraplegia 18 MONDO:0012639; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ERLIN2","entity_type":"gene"},{"created":"2022-04-04T14:06:08.759405+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12518","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: AMT as ready","entity_name":"AMT","entity_type":"gene"},{"created":"2022-04-04T14:06:08.748834+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12518","user_name":"Elena Savva","item_type":"entity","text":"Gene: amt has been classified as Green List (High Evidence).","entity_name":"AMT","entity_type":"gene"},{"created":"2022-04-04T14:03:47.576344+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12518","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: EPX as ready","entity_name":"EPX","entity_type":"gene"},{"created":"2022-04-04T14:03:47.564300+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12518","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: epx has been classified as Red List (Low Evidence).","entity_name":"EPX","entity_type":"gene"},{"created":"2022-04-04T14:02:09.094560+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12518","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: EPX were changed from  to [Eosinophil peroxidase deficiency] MIM#261500","entity_name":"EPX","entity_type":"gene"},{"created":"2022-04-04T14:00:28.480510+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12517","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: AMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AMT","entity_type":"gene"},{"created":"2022-04-04T14:00:21.971400+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12517","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: AMT were changed from  to Glycine encephalopathy MIM#605899; disorder of glycine metabolism","entity_name":"AMT","entity_type":"gene"},{"created":"2022-04-04T14:00:18.257811+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12517","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: AMT were set to ","entity_name":"AMT","entity_type":"gene"},{"created":"2022-04-04T13:47:18.268732+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12516","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: AMHR2 as ready","entity_name":"AMHR2","entity_type":"gene"},{"created":"2022-04-04T13:47:18.258915+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12516","user_name":"Elena Savva","item_type":"entity","text":"Gene: amhr2 has been classified as Green List (High Evidence).","entity_name":"AMHR2","entity_type":"gene"},{"created":"2022-04-04T13:43:25.477597+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12516","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: AMHR2 were changed from  to Persistent Mullerian duct syndrome, type II MIM#261550","entity_name":"AMHR2","entity_type":"gene"},{"created":"2022-04-04T13:43:13.482275+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12515","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: AMHR2 were set to ","entity_name":"AMHR2","entity_type":"gene"},{"created":"2022-04-04T13:43:08.100043+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12515","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: AMHR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AMHR2","entity_type":"gene"},{"created":"2022-04-04T13:41:06.271789+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12514","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ALX4 as ready","entity_name":"ALX4","entity_type":"gene"},{"created":"2022-04-04T13:41:06.261414+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12514","user_name":"Elena Savva","item_type":"entity","text":"Gene: alx4 has been classified as Green List (High Evidence).","entity_name":"ALX4","entity_type":"gene"},{"created":"2022-04-04T13:40:56.056819+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12514","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: AMHR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34810374; Phenotypes: Persistent Mullerian duct syndrome, type II MIM#261550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AMHR2","entity_type":"gene"},{"created":"2022-04-04T13:36:11.367537+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12514","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: EPX were set to ","entity_name":"EPX","entity_type":"gene"},{"created":"2022-04-04T13:34:54.467117+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12513","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: EPX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EPX","entity_type":"gene"},{"created":"2022-04-04T13:31:39.281308+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12512","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ALX4 were changed from  to Frontonasal dysplasia 2 MIM# 613451; Parietal foramina 2 MIM# 609597; {Craniosynostosis 5, susceptibility to} MIM#615529","entity_name":"ALX4","entity_type":"gene"},{"created":"2022-04-04T13:31:38.115701+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12512","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: ALX4 were set to ","entity_name":"ALX4","entity_type":"gene"},{"created":"2022-04-04T13:31:17.654468+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12512","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: ALX4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ALX4","entity_type":"gene"},{"created":"2022-04-04T13:30:11.876649+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12511","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: EPX as Red List (low evidence)","entity_name":"EPX","entity_type":"gene"},{"created":"2022-04-04T13:30:11.862591+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12511","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: epx has been classified as Red List (Low Evidence).","entity_name":"EPX","entity_type":"gene"},{"created":"2022-04-04T13:24:07.698321+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12510","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: EPX: Rating: RED; Mode of pathogenicity: None; Publications: 7809065, 11241847; Phenotypes: [Eosinophil peroxidase deficiency] MIM#261500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EPX","entity_type":"gene"},{"created":"2022-04-04T13:23:57.221330+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12510","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ALX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22829454, 34586326; Phenotypes: Frontonasal dysplasia 2 MIM# 613451, Parietal foramina 2 MIM# 609597, {Craniosynostosis 5, susceptibility to} MIM#615529; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ALX4","entity_type":"gene"},{"created":"2022-04-04T13:11:49.405622+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12510","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: ALMS1 were set to PMID: 17594715","entity_name":"ALMS1","entity_type":"gene"},{"created":"2022-04-04T13:11:37.238620+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12509","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: ALMS1 were set to ","entity_name":"ALMS1","entity_type":"gene"},{"created":"2022-04-04T13:11:32.800833+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12508","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ALMS1 as ready","entity_name":"ALMS1","entity_type":"gene"},{"created":"2022-04-04T13:11:32.788989+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12508","user_name":"Elena Savva","item_type":"entity","text":"Gene: alms1 has been classified as Green List (High Evidence).","entity_name":"ALMS1","entity_type":"gene"},{"created":"2022-04-04T13:05:25.190895+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12508","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ALDH6A1 as ready","entity_name":"ALDH6A1","entity_type":"gene"},{"created":"2022-04-04T13:05:25.176440+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12508","user_name":"Elena Savva","item_type":"entity","text":"Gene: aldh6a1 has been classified as Green List (High Evidence).","entity_name":"ALDH6A1","entity_type":"gene"},{"created":"2022-04-04T12:58:55.973177+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12508","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal recessive, type IIIA MIM#219150; Spastic paraplegia 9A, autosomal dominant MIM#601162; Spastic paraplegia 9B, autosomal recessive MIM#616586; Cutis laxa, autosomal dominant 3 MIM#616603; disorders of ornithine or proline metabolism to Cutis laxa, autosomal recessive, type IIIA MIM#219150; Spastic paraplegia 9A, autosomal dominant MIM#601162; Spastic paraplegia 9B, autosomal recessive MIM#616586; Cutis laxa, autosomal dominant 3 MIM#616603; disorders of ornithine or proline metabolism","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2022-04-04T12:56:36.713881+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12507","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ALDH6A1 were changed from  to Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105; disorder of valine and pyrimidine metabolism","entity_name":"ALDH6A1","entity_type":"gene"},{"created":"2022-04-04T12:56:23.678492+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12506","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: ALDH6A1 were set to ","entity_name":"ALDH6A1","entity_type":"gene"},{"created":"2022-04-04T12:56:19.472681+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12506","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: ALDH6A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDH6A1","entity_type":"gene"},{"created":"2022-04-04T12:55:47.325960+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12505","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ALDH18A1 were changed from  to Cutis laxa, autosomal recessive, type IIIA MIM#219150; Spastic paraplegia 9A, autosomal dominant MIM#601162; Spastic paraplegia 9B, autosomal recessive MIM#616586; Cutis laxa, autosomal dominant 3 MIM#616603; disorders of ornithine or proline metabolism","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2022-04-04T12:55:42.961647+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12504","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ALDH18A1 as ready","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2022-04-04T12:55:42.949267+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12504","user_name":"Elena Savva","item_type":"entity","text":"Gene: aldh18a1 has been classified as Green List (High Evidence).","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2022-04-04T12:54:03.298428+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12504","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: ALDH18A1 were set to ","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2022-04-04T12:53:57.623886+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12504","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: ALDH18A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2022-04-04T11:18:27.167423+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12503","user_name":"Samantha Ayres","item_type":"entity","text":"reviewed gene: SERPINC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31359133, 30356112, 23910795, 28317092, 29747524, 11018075, 14590998; Phenotypes: hereditary antithrombin deficiency MONDO:0013144, Thrombophilia 7 due to antithrombin III deficiency, MIM#613118; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"SERPINC1","entity_type":"gene"},{"created":"2022-04-04T11:02:03.712396+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12503","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CASR as ready","entity_name":"CASR","entity_type":"gene"},{"created":"2022-04-04T11:02:03.696412+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12503","user_name":"Ain Roesley","item_type":"entity","text":"Gene: casr has been classified as Green List (High Evidence).","entity_name":"CASR","entity_type":"gene"},{"created":"2022-04-04T11:01:56.245612+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12503","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CASR were changed from  to Hyperparathyroidism, neonatal MIM#239200; Hypocalcemia, autosomal dominant MIM#601198; Hypocalcemia autosomal dominant, with Bartter syndrome MIM#601198; hypercalcemia, type I MIM#145980","entity_name":"CASR","entity_type":"gene"},{"created":"2022-04-04T11:01:48.869390+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12502","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CASR were set to ","entity_name":"CASR","entity_type":"gene"},{"created":"2022-04-04T11:01:44.583585+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12502","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CASR was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"CASR","entity_type":"gene"},{"created":"2022-04-04T11:01:25.855435+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12501","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: None; Publications: 7916660, 7726161, 8675635, 17698911, 22620673, 26646938, 22422767; Phenotypes: Hyperparathyroidism, neonatal MIM#239200, Hypocalcemia, autosomal dominant MIM#601198, Hypocalcemia autosomal dominant, with Bartter syndrome MIM#601198, hypercalcemia, type I MIM#145980; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CASR","entity_type":"gene"},{"created":"2022-04-04T10:54:42.325934+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12501","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CASQ1 were set to ","entity_name":"CASQ1","entity_type":"gene"},{"created":"2022-04-04T10:54:26.463723+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12500","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CASQ1 as ready","entity_name":"CASQ1","entity_type":"gene"},{"created":"2022-04-04T10:54:26.439581+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12500","user_name":"Ain Roesley","item_type":"entity","text":"Gene: casq1 has been classified as Green List (High Evidence).","entity_name":"CASQ1","entity_type":"gene"},{"created":"2022-04-04T10:53:51.454123+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12500","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CASQ1 were changed from  to Myopathy, vacuolar, with CASQ1 aggregates MIM#616231","entity_name":"CASQ1","entity_type":"gene"}]}