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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=833",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=831",
"results": [
{
"created": "2022-05-19T14:02:16.059730+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MPO as Amber List (moderate evidence)",
"entity_name": "MPO",
"entity_type": "gene"
},
{
"created": "2022-05-19T14:02:16.046847+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpo has been classified as Amber List (Moderate Evidence).",
"entity_name": "MPO",
"entity_type": "gene"
},
{
"created": "2022-05-19T14:01:07.377100+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MPO: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myeloperoxidase deficiency, MIM# 254600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPO",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:37:07.358848+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPC1",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:35:59.089954+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22628558, 34873722; Phenotypes: Mitochondrial pyruvate carrier deficiency, MIM# 614741; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPC1",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:33:13.338526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPC1 as ready",
"entity_name": "MPC1",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:33:13.324905+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpc1 has been classified as Green List (High Evidence).",
"entity_name": "MPC1",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:33:01.574140+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPC1 were changed from to Mitochondrial pyruvate carrier deficiency, MIM# 614741",
"entity_name": "MPC1",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:32:09.522656+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MPC1 were set to ",
"entity_name": "MPC1",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:31:39.443027+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPC1",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:31:18.171712+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22628558, 34873722; Phenotypes: Mitochondrial pyruvate carrier deficiency, MIM# 614741; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPC1",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:27:10.371579+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MOG as ready",
"entity_name": "MOG",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:27:10.352814+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mog has been classified as Red List (Low Evidence).",
"entity_name": "MOG",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:26:59.037054+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MOG were changed from to Narcolepsy 7 , MIM# 614250",
"entity_name": "MOG",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:26:33.662588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MOG were set to ",
"entity_name": "MOG",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:24:04.981314+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MOG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MOG",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:23:41.604750+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MOG as Red List (low evidence)",
"entity_name": "MOG",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:23:41.593037+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mog has been classified as Red List (Low Evidence).",
"entity_name": "MOG",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:23:19.301835+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MOG: Rating: RED; Mode of pathogenicity: None; Publications: 21907016; Phenotypes: Narcolepsy 7 , MIM# 614250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MOG",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:19:54.903774+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MOCS3 as ready",
"entity_name": "MOCS3",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:19:54.891608+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mocs3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MOCS3",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:19:49.058975+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MOCS3 as Amber List (moderate evidence)",
"entity_name": "MOCS3",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:19:49.046803+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mocs3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MOCS3",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:19:10.111126+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MOCS3 was added\ngene: MOCS3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: MOCS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MOCS3 were set to 33897766; 28544736\nPhenotypes for gene: MOCS3 were set to Molybdenum cofactor deficiency MONDO:0020480\nReview for gene: MOCS3 was set to AMBER\nAdded comment: Two unrelated families reported. \nSources: Expert Review",
"entity_name": "MOCS3",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:17:13.618145+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MOCS3 as ready",
"entity_name": "MOCS3",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:17:13.605567+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mocs3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MOCS3",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:17:02.101216+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MOCS3 were changed from to Molybdenum cofactor deficiency MONDO:0020480",
"entity_name": "MOCS3",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:16:31.390465+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MOCS3 were set to ",
"entity_name": "MOCS3",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:15:42.925069+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MOCS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOCS3",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:15:20.952587+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MOCS3 as Amber List (moderate evidence)",
"entity_name": "MOCS3",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:15:20.940316+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mocs3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MOCS3",
"entity_type": "gene"
},
{
"created": "2022-05-19T13:15:00.599963+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MOCS3: Rating: AMBER; Mode of pathogenicity: None; Publications: 33897766, 28544736; Phenotypes: Molybdenum cofactor deficiency MONDO:0020480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOCS3",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:58:13.902407+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MOCS1 as ready",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:58:13.884075+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mocs1 has been classified as Green List (High Evidence).",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:58:05.128744+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MOCS1 were set to 21031595; 9921896; 12754701",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:56:42.872266+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MNX1 as ready",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:56:42.858424+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mnx1 has been classified as Green List (High Evidence).",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:56:33.954009+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MNX1 were changed from to Currarino syndrome, MIM# 176450",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:56:10.535236+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MNX1 were set to ",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:55:40.640421+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MNX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:54:44.049748+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMP2 as ready",
"entity_name": "MMP2",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:54:44.037279+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmp2 has been classified as Green List (High Evidence).",
"entity_name": "MMP2",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:54:27.166315+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MMP2 were changed from to Multicentric osteolysis, nodulosis, and arthropathy, MIM# 259600",
"entity_name": "MMP2",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:54:06.116519+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MMP2 were set to ",
"entity_name": "MMP2",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:53:33.837528+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MMP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMP2",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:53:14.904057+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11431697, 15691365, 17059372, 17400654; Phenotypes: Multicentric osteolysis, nodulosis, and arthropathy, MIM# 259600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMP2",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:13:07.391314+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14535",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ATP6V1A were set to 29668857; 28065471; 33320377",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:12:58.455065+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14534",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP6V1A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:07:59.695712+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14533",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ATP6V1A were set to ",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:07:57.277199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14533",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP6V1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:07:53.017893+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14533",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ATP6V1A as ready",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:07:52.954252+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14533",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: atp6v1a has been classified as Green List (High Evidence).",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:07:49.604259+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14533",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V1A were changed from to Cutis laxa, autosomal recessive, type IID MIM#617403; Developmental and epileptic encephalopathy 93 MIM#618012",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:07:22.785041+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14532",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ATP6V1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29668857, 28065471, 33320377; Phenotypes: Cutis laxa, autosomal recessive, type IID MIM#617403, Developmental and epileptic encephalopathy 93 MIM#618012; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:04:51.818612+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14532",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6AP2 were changed from ?Parkinsonism with spasticity, X-linked MIM#300911; Congenital disorder of glycosylation, type IIr MIM#301045; Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423 to ?Parkinsonism with spasticity, X-linked MIM#300911; Congenital disorder of glycosylation, type IIr MIM#301045; Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:04:42.095741+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14531",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ATP6AP2 as ready",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2022-05-19T12:04:42.083028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14531",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: atp6ap2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:58:58.967080+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WDR19 as Green List (high evidence)",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:58:58.952460+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wdr19 has been classified as Green List (High Evidence).",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:58:37.801908+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WDR19 as Green List (high evidence)",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:58:37.774513+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wdr19 has been classified as Green List (High Evidence).",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:58:16.679502+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WDR19 as Green List (high evidence)",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:58:16.667608+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wdr19 has been classified as Green List (High Evidence).",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:57:55.710046+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WDR19 as Green List (high evidence)",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:57:55.697979+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wdr19 has been classified as Green List (High Evidence).",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:57:48.430408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14531",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6AP2 were changed from to ?Parkinsonism with spasticity, X-linked MIM#300911; Congenital disorder of glycosylation, type IIr MIM#301045; Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:57:31.950623+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14531",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ATP6AP2 were set to ",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:57:29.064300+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14531",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP6AP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:57:20.994838+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14531",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ATP6AP2 was changed from to Other",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:56:43.626417+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.39",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: WDR19 was added\ngene: WDR19 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR19 were set to PMID: 24027799\nPhenotypes for gene: WDR19 were set to Cranioectodermal dysplasia 4 , OMIM # 614378\nReview for gene: WDR19 was set to GREEN\nAdded comment: Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described. Mutations in WDR19 account for ~7% cases, \nSources: Literature",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:56:03.063052+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14530",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ATP6AP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 23595882; Phenotypes: ?Parkinsonism with spasticity, X-linked MIM#300911, Congenital disorder of glycosylation, type IIr MIM#301045, Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:56:00.412276+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMADHC as ready",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:56:00.396494+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmadhc has been classified as Green List (High Evidence).",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:55:51.394818+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MMADHC were changed from to Homocystinuria, cblD type, variant 1 MIM#277410; Methylmalonic aciduria and homocystinuria, cblD type MIM#277410; Methylmalonic aciduria, cblD type, variant 2 MIM#277410; Disorders of cobalamin absorption, transport and metabolism",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:55:26.641235+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MMADHC were set to ",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:55:03.195608+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MMADHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:54:14.937360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMACHC as ready",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:54:14.924897+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmachc has been classified as Green List (High Evidence).",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:54:05.884395+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MMACHC were changed from to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400; Disorders of cobalamin absorption, transport and metabolism",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:53:31.681520+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MMACHC were set to ",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:53:09.313765+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MMACHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:52:03.389211+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMAB as ready",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:52:03.363033+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmab has been classified as Green List (High Evidence).",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:51:54.131291+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MMAB were changed from to Methylmalonic aciduria, vitamin B12-responsive, cblB type, MIM# 251110",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:51:31.003053+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MMAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:51:10.497505+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblB type, MIM# 251110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:49:58.318658+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMAA as ready",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:49:58.303220+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmaa has been classified as Green List (High Evidence).",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:49:48.609156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MMAA were changed from to Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:49:23.205307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MMAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:49:03.207454+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MMAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:47:37.867216+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MLPH as ready",
"entity_name": "MLPH",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:47:37.854810+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mlph has been classified as Green List (High Evidence).",
"entity_name": "MLPH",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:47:28.633693+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MLPH were changed from to Griscelli syndrome, type 3, MIM# 609227",
"entity_name": "MLPH",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:47:02.992250+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MLPH were set to ",
"entity_name": "MLPH",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:46:40.277885+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MLPH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MLPH",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:46:21.145213+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MLPH: Rating: GREEN; Mode of pathogenicity: None; Publications: 12897212, 32864751, 31721180; Phenotypes: Griscelli syndrome, type 3, MIM# 609227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MLPH",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:41:43.741024+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MITF as ready",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:41:43.722417+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mitf has been classified as Green List (High Evidence).",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2022-05-19T11:41:34.695710+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MITF were changed from to COMMAD syndrome, MIM# 617306; Tietz albinism-deafness syndrome, MIM# 103500; Waardenburg syndrome, type 2A, MIM# 193510",
"entity_name": "MITF",
"entity_type": "gene"
}
]
}