{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1729","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1727","results":[{"created":"2020-07-15T16:23:54.513752+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6ap1 has been classified as Green List (High Evidence).","entity_name":"ATP6AP1","entity_type":"gene"},{"created":"2020-07-15T16:23:09.497054+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALG2 as Red List (low evidence)","entity_name":"ALG2","entity_type":"gene"},{"created":"2020-07-15T16:23:09.486990+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg2 has been classified as Red List (Low Evidence).","entity_name":"ALG2","entity_type":"gene"},{"created":"2020-07-15T16:23:05.906876+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAPPC11 as ready","entity_name":"TRAPPC11","entity_type":"gene"},{"created":"2020-07-15T16:23:05.898073+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trappc11 has been classified as Amber List (Moderate Evidence).","entity_name":"TRAPPC11","entity_type":"gene"},{"created":"2020-07-15T16:23:02.017369+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.70","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: 1 family described with West syndrome (PMID: 23252400). 2 unrelated consanguineous families described in PMID: 21907012. Functional testing supports abnormal enzyme function in all cases but no biochemical studies on patients.\r\n\r\nST3GAL3 located on chr1p34.1 encodes the β-galactoside-α2,3-sialyltransferase-III (ST3Gal-III), which in humans predominantly forms the sialyl Lewis a (sLe a) epitope on glycoproteins.\r\n\r\nThis gene is on the Invitae and EGL CDG panels.; to: 1 family described with West syndrome (PMID: 23252400). 2 unrelated consanguineous families described in PMID: 21907012 with ID. Functional testing supports abnormal enzyme function in all cases but no biochemical studies on patients.\r\n\r\nST3GAL3 located on chr1p34.1 encodes the β-galactoside-α2,3-sialyltransferase-III (ST3Gal-III), which in humans predominantly forms the sialyl Lewis a (sLe a) epitope on glycoproteins.\r\n\r\nThis gene is on the Invitae and EGL CDG panels.","entity_name":"ST3GAL3","entity_type":"gene"},{"created":"2020-07-15T16:22:48.857700+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.70","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: ST3GAL3: Rating: AMBER; Mode of pathogenicity: None; Publications: 23252400, 21907012; Phenotypes: Mental retardation, autosomal recessive 12 MIM# 611090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ST3GAL3","entity_type":"gene"},{"created":"2020-07-15T16:21:02.527525+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRAPPC11 as Amber List (moderate evidence)","entity_name":"TRAPPC11","entity_type":"gene"},{"created":"2020-07-15T16:21:02.516553+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trappc11 has been classified as Amber List (Moderate Evidence).","entity_name":"TRAPPC11","entity_type":"gene"},{"created":"2020-07-15T16:20:59.770769+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: XYLT2 as ready","entity_name":"XYLT2","entity_type":"gene"},{"created":"2020-07-15T16:20:59.764324+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xylt2 has been classified as Green List (High Evidence).","entity_name":"XYLT2","entity_type":"gene"},{"created":"2020-07-15T16:20:29.550572+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: None; Publications: 23830518, 26322222, 29855340, 30105108, 26912795, 27707803, 27862579, 28484880; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAPPC11","entity_type":"gene"},{"created":"2020-07-15T16:15:32.195997+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: XYLT2 were changed from  to Spondyloocular syndrome MIM# 605822","entity_name":"XYLT2","entity_type":"gene"},{"created":"2020-07-15T16:15:04.000399+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: XYLT2 as Green List (high evidence)","entity_name":"XYLT2","entity_type":"gene"},{"created":"2020-07-15T16:15:03.990261+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xylt2 has been classified as Green List (High Evidence).","entity_name":"XYLT2","entity_type":"gene"},{"created":"2020-07-15T16:14:04.191433+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG13 as ready","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-07-15T16:14:04.184618+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg13 has been classified as Amber List (Moderate Evidence).","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-07-15T16:13:48.507734+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG13 were changed from  to Congenital disorder of glycosylation, type Is (MIM# 300884)","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-07-15T16:12:19.049863+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGW as ready","entity_name":"PIGW","entity_type":"gene"},{"created":"2020-07-15T16:12:19.042261+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigw has been classified as Green List (High Evidence).","entity_name":"PIGW","entity_type":"gene"},{"created":"2020-07-15T16:12:14.901858+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGW were changed from  to Glycosylphosphatidylinositol biosynthesis defect 11, MIM#\t616025; intractable seizures; West syndrome; severe developmental delay; dysmorphic facial features; hyperphosphatasia; epilepsy; recurrent respiratory infections; hypotonia; stereotypies","entity_name":"PIGW","entity_type":"gene"},{"created":"2020-07-15T16:11:32.993837+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGW were set to ","entity_name":"PIGW","entity_type":"gene"},{"created":"2020-07-15T16:10:34.277157+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGW was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGW","entity_type":"gene"},{"created":"2020-07-15T16:09:45.411502+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG13 were set to 22492991; 28887793; 26138355","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-07-15T16:08:49.252300+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGM as ready","entity_name":"PIGM","entity_type":"gene"},{"created":"2020-07-15T16:08:49.245803+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigm has been classified as Amber List (Moderate Evidence).","entity_name":"PIGM","entity_type":"gene"},{"created":"2020-07-15T16:07:54.800700+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: PIGM.","entity_name":"PIGM","entity_type":"gene"},{"created":"2020-07-15T16:07:49.438508+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3342","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: PIGM: Rating: AMBER; Mode of pathogenicity: None; Publications: 31445883, 16767100; Phenotypes: portal vein thrombosis, persistent absence seizures, macrocephaly, infantile-onset cerebrovascular thrombotic events; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"PIGM","entity_type":"gene"},{"created":"2020-07-15T16:07:43.017359+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGM were changed from  to portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events","entity_name":"PIGM","entity_type":"gene"},{"created":"2020-07-15T16:07:29.494511+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG13 were set to ","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-07-15T16:07:05.538401+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGM were set to ","entity_name":"PIGM","entity_type":"gene"},{"created":"2020-07-15T16:06:39.353235+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALG13 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-07-15T16:06:26.009216+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGM","entity_type":"gene"},{"created":"2020-07-15T16:06:07.546082+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIGM as Amber List (moderate evidence)","entity_name":"PIGM","entity_type":"gene"},{"created":"2020-07-15T16:06:07.539052+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigm has been classified as Amber List (Moderate Evidence).","entity_name":"PIGM","entity_type":"gene"},{"created":"2020-07-15T16:05:51.514214+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3342","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: LEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 26567097; Phenotypes: Obesity, morbid, due to leptin deficiency (MIM#614962); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LEP","entity_type":"gene"},{"created":"2020-07-15T16:04:28.183769+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALG13 as Amber List (moderate evidence)","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-07-15T16:04:28.173694+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg13 has been classified as Amber List (Moderate Evidence).","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-07-15T16:03:49.121837+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.92","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: LEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 26567097, 31483094; Phenotypes: Obesity, morbid, due to leptin deficiency (MIM#614962); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LEP","entity_type":"gene"},{"created":"2020-07-15T15:59:29.823541+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3342","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DMRT1 as ready","entity_name":"DMRT1","entity_type":"gene"},{"created":"2020-07-15T15:59:29.813033+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3342","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dmrt1 has been classified as Red List (Low Evidence).","entity_name":"DMRT1","entity_type":"gene"},{"created":"2020-07-15T15:59:23.058128+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3342","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DMRT1 were changed from  to Azoospermia","entity_name":"DMRT1","entity_type":"gene"},{"created":"2020-07-15T15:59:06.427473+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3341","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DMRT1 were set to ","entity_name":"DMRT1","entity_type":"gene"},{"created":"2020-07-15T15:58:48.180039+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3340","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DMRT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DMRT1","entity_type":"gene"},{"created":"2020-07-15T15:58:32.786554+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3339","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DMRT1 as Red List (low evidence)","entity_name":"DMRT1","entity_type":"gene"},{"created":"2020-07-15T15:58:32.777142+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3339","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dmrt1 has been classified as Red List (Low Evidence).","entity_name":"DMRT1","entity_type":"gene"},{"created":"2020-07-15T15:58:18.023415+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3338","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DMRT1: Rating: RED; Mode of pathogenicity: None; Publications: 31479588, 24934491, 29527098; Phenotypes: Azoospermia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DMRT1","entity_type":"gene"},{"created":"2020-07-15T15:56:42.370398+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DMRT1 as ready","entity_name":"DMRT1","entity_type":"gene"},{"created":"2020-07-15T15:56:42.354903+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dmrt1 has been classified as Red List (Low Evidence).","entity_name":"DMRT1","entity_type":"gene"},{"created":"2020-07-15T15:56:38.475725+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DMRT1 as Red List (low evidence)","entity_name":"DMRT1","entity_type":"gene"},{"created":"2020-07-15T15:56:38.465998+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dmrt1 has been classified as Red List (Low Evidence).","entity_name":"DMRT1","entity_type":"gene"},{"created":"2020-07-15T15:54:17.879626+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHCR24 as ready","entity_name":"DHCR24","entity_type":"gene"},{"created":"2020-07-15T15:54:17.871525+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhcr24 has been classified as Red List (Low Evidence).","entity_name":"DHCR24","entity_type":"gene"},{"created":"2020-07-15T15:54:14.541380+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHCR24 were changed from  to Desmosterolosis, MIM# 602398","entity_name":"DHCR24","entity_type":"gene"},{"created":"2020-07-15T15:53:35.799064+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DHCR24 were set to ","entity_name":"DHCR24","entity_type":"gene"},{"created":"2020-07-15T15:53:12.765264+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DHCR24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DHCR24","entity_type":"gene"},{"created":"2020-07-15T15:52:51.941786+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DHCR24 as Red List (low evidence)","entity_name":"DHCR24","entity_type":"gene"},{"created":"2020-07-15T15:52:51.931250+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhcr24 has been classified as Red List (Low Evidence).","entity_name":"DHCR24","entity_type":"gene"},{"created":"2020-07-15T15:51:16.276423+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2770","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LHX3 as ready","entity_name":"LHX3","entity_type":"gene"},{"created":"2020-07-15T15:51:16.267897+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2770","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhx3 has been classified as Red List (Low Evidence).","entity_name":"LHX3","entity_type":"gene"},{"created":"2020-07-15T15:51:12.222239+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2770","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LHX3 were changed from  to Pituitary hormone deficiency, combined, 3 (MIM#221750)","entity_name":"LHX3","entity_type":"gene"},{"created":"2020-07-15T15:50:46.124423+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2769","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LHX3 were set to ","entity_name":"LHX3","entity_type":"gene"},{"created":"2020-07-15T15:49:58.423697+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2768","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LHX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LHX3","entity_type":"gene"},{"created":"2020-07-15T15:49:33.979747+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2767","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LHX3 as Red List (low evidence)","entity_name":"LHX3","entity_type":"gene"},{"created":"2020-07-15T15:49:33.972682+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2767","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhx3 has been classified as Red List (Low Evidence).","entity_name":"LHX3","entity_type":"gene"},{"created":"2020-07-15T15:48:32.879219+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYB5A as ready","entity_name":"CYB5A","entity_type":"gene"},{"created":"2020-07-15T15:48:32.871963+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyb5a has been classified as Green List (High Evidence).","entity_name":"CYB5A","entity_type":"gene"},{"created":"2020-07-15T15:47:46.055537+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYB5A were changed from Methemoglobinemia and ambiguous genitalia\t250790 to Methemoglobinemia and ambiguous genitalia, MIM#\t250790","entity_name":"CYB5A","entity_type":"gene"},{"created":"2020-07-15T15:47:29.188114+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CYB5A as Green List (high evidence)","entity_name":"CYB5A","entity_type":"gene"},{"created":"2020-07-15T15:47:29.181429+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyb5a has been classified as Green List (High Evidence).","entity_name":"CYB5A","entity_type":"gene"},{"created":"2020-07-15T15:46:22.820991+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LHX3 as ready","entity_name":"LHX3","entity_type":"gene"},{"created":"2020-07-15T15:46:22.813291+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhx3 has been classified as Green List (High Evidence).","entity_name":"LHX3","entity_type":"gene"},{"created":"2020-07-15T15:46:10.910809+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LHX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LHX3","entity_type":"gene"},{"created":"2020-07-15T15:42:54.053563+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LHX3 were changed from  to Pituitary hormone deficiency, combined, 3 (MIM#221750)","entity_name":"LHX3","entity_type":"gene"},{"created":"2020-07-15T15:42:22.972821+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LHX3 were set to ","entity_name":"LHX3","entity_type":"gene"},{"created":"2020-07-15T15:42:05.261418+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.57","user_name":"Ain Roesley","item_type":"entity","text":"gene: B3GLCT was added\ngene: B3GLCT was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B3GLCT were set to 18199743; 16909395\nPhenotypes for gene: B3GLCT were set to Peters-plus syndrome (MIM# 261540)\nPenetrance for gene: B3GLCT were set to unknown\nReview for gene: B3GLCT was set to GREEN\nAdded comment: PMID: 18199743\r\n- 4 affecteds including 1 pair of siblings with mass spec analysis from patients' serum showing defective O-glycosylation\r\n\r\nPMID: 16909395\r\n-  20 affecteds from 15 families with no defective N-glycosylation however authors did not examine O-glycosylation and concluded that absence of defective glycosylation cannot be completely ruled out \nSources: Literature","entity_name":"B3GLCT","entity_type":"gene"},{"created":"2020-07-15T15:40:22.734173+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CUL4B as ready","entity_name":"CUL4B","entity_type":"gene"},{"created":"2020-07-15T15:40:22.708906+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cul4b has been classified as Green List (High Evidence).","entity_name":"CUL4B","entity_type":"gene"},{"created":"2020-07-15T15:39:56.650024+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CUL4B was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"CUL4B","entity_type":"gene"},{"created":"2020-07-15T15:39:25.738110+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CUL4B as Green List (high evidence)","entity_name":"CUL4B","entity_type":"gene"},{"created":"2020-07-15T15:39:25.727865+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cul4b has been classified as Green List (High Evidence).","entity_name":"CUL4B","entity_type":"gene"},{"created":"2020-07-15T15:38:51.925265+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3338","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CBX2 as ready","entity_name":"CBX2","entity_type":"gene"},{"created":"2020-07-15T15:38:51.918527+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3338","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cbx2 has been classified as Red List (Low Evidence).","entity_name":"CBX2","entity_type":"gene"},{"created":"2020-07-15T15:38:38.515874+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3338","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CBX2 were changed from  to 46XY sex reversal 5, MIM# 613080","entity_name":"CBX2","entity_type":"gene"},{"created":"2020-07-15T15:38:08.178202+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3337","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CBX2 were set to ","entity_name":"CBX2","entity_type":"gene"},{"created":"2020-07-15T15:37:36.574704+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3336","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CBX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CBX2","entity_type":"gene"},{"created":"2020-07-15T15:36:38.823710+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3335","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CBX2 as Red List (low evidence)","entity_name":"CBX2","entity_type":"gene"},{"created":"2020-07-15T15:36:38.816854+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3335","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cbx2 has been classified as Red List (Low Evidence).","entity_name":"CBX2","entity_type":"gene"},{"created":"2020-07-15T15:35:27.575797+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3334","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CBX2: Rating: RED; Mode of pathogenicity: None; Publications: 19361780, 31719618, 23219007; Phenotypes: 46XY sex reversal 5, MIM# 613080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CBX2","entity_type":"gene"},{"created":"2020-07-15T15:33:51.136489+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CBX2 as ready","entity_name":"CBX2","entity_type":"gene"},{"created":"2020-07-15T15:33:51.126970+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cbx2 has been classified as Red List (Low Evidence).","entity_name":"CBX2","entity_type":"gene"},{"created":"2020-07-15T15:33:39.505530+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3334","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 17229951, 29545012; Phenotypes: Obesity, morbid, due to leptin receptor deficiency (MIM#614963); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LEPR","entity_type":"gene"},{"created":"2020-07-15T15:33:25.854828+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CBX2 were changed from  to 46XY sex reversal 5, MIM# 613080","entity_name":"CBX2","entity_type":"gene"},{"created":"2020-07-15T15:33:09.844659+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CBX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CBX2","entity_type":"gene"},{"created":"2020-07-15T15:32:09.765685+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CBX2 were set to ","entity_name":"CBX2","entity_type":"gene"},{"created":"2020-07-15T15:31:33.854743+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CBX2 as Red List (low evidence)","entity_name":"CBX2","entity_type":"gene"},{"created":"2020-07-15T15:31:33.845068+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cbx2 has been classified as Red List (Low Evidence).","entity_name":"CBX2","entity_type":"gene"},{"created":"2020-07-15T15:31:29.020325+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.76","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 17229951, 29545012; Phenotypes: Obesity, morbid, due to leptin receptor deficiency (MIM#614963); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LEPR","entity_type":"gene"},{"created":"2020-07-15T15:31:11.924064+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CBX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 46XY sex reversal 5, MIM# 613080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CBX2","entity_type":"gene"},{"created":"2020-07-15T15:28:55.569952+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCM5 as ready","entity_name":"MCM5","entity_type":"gene"}]}