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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1729",
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"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"
}
]
}