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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=859",
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"results": [
{
"created": "2022-05-04T21:13:52.371293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13742",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CSRP3 were set to ",
"entity_name": "CSRP3",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:13:47.456067+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13742",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSRP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CSRP3",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:13:22.402869+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13741",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CSRP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18505755, 30681346, 12507422, 14567970, 19412328; Phenotypes: hypertrophic cardiomyopathy12 MIM#612124, dilated cardiomyopathy 1M MIM#607482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CSRP3",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:09:29.962032+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13741",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CRYGS as ready",
"entity_name": "CRYGS",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:09:29.946719+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13741",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: crygs has been classified as Green List (High Evidence).",
"entity_name": "CRYGS",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:09:19.547443+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13741",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CRYGS were changed from to Cataract 20, multiple types MIM#116100",
"entity_name": "CRYGS",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:09:08.580270+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13740",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CRYGS were set to ",
"entity_name": "CRYGS",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:09:00.386443+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13740",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRYGS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYGS",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:08:43.306330+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13739",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CRYGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 34014271, 16141006, 18587492, 19262743; Phenotypes: Cataract 20, multiple types MIM#116100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CRYGS",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:04:26.157844+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13739",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CRYGB as ready",
"entity_name": "CRYGB",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:04:26.145563+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13739",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: crygb has been classified as Red List (Low Evidence).",
"entity_name": "CRYGB",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:04:19.498935+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13739",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CRYGB were changed from to Cataract 39, multiple types, autosomal dominant MIM#615188",
"entity_name": "CRYGB",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:04:10.850737+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13738",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRYGB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYGB",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:04:07.276550+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13739",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CRYGB were set to ",
"entity_name": "CRYGB",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:03:59.211895+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13738",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CRYGB as Red List (low evidence)",
"entity_name": "CRYGB",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:03:59.198780+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13738",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: crygb has been classified as Red List (Low Evidence).",
"entity_name": "CRYGB",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:03:40.421819+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13737",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CRYGB: Rating: RED; Mode of pathogenicity: None; Publications: 23288985; Phenotypes: Cataract 39, multiple types, autosomal dominant MIM#615188; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CRYGB",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:00:03.900163+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13737",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CRYAB as ready",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2022-05-04T21:00:03.854287+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13737",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cryab has been classified as Green List (High Evidence).",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:59:36.130679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13737",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CRYAB were changed from to Cataract 16, multiple types MIM#613763 AD, AR; Myopathy, myofibrillar, 2 MIM#608810 AD; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related MIM#613869 AR",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:59:23.963782+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13736",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CRYAB were set to ",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:59:18.525125+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13736",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRYAB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:58:58.556418+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13735",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CRYAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31215171, 21337604, 21130652, 32420686, 33272090; Phenotypes: Cataract 16, multiple types MIM#613763 AD, AR, Myopathy, myofibrillar, 2 MIM#608810 AD, Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related MIM#613869 AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:42:11.400851+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13735",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CRX as ready",
"entity_name": "CRX",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:42:11.388911+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13735",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: crx has been classified as Green List (High Evidence).",
"entity_name": "CRX",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:41:53.312722+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13735",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CRX were changed from to Leber congenital amaurosis 7, MIM# 613829; Cone-rod retinal dystrophy-2 MIM#120970",
"entity_name": "CRX",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:41:50.696462+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13734",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CRX were set to ",
"entity_name": "CRX",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:41:30.670339+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13734",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRX was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CRX",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:41:09.728091+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13733",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 12208271, 9931337, 9537410, 29568065, 27427859, 25270190, 32927963, 33910785; Phenotypes: Leber congenital amaurosis 7, MIM# 613829, Cone-rod retinal dystrophy-2 MIM#120970; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CRX",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:37:29.499471+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13733",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CREB1 as Red List (low evidence)",
"entity_name": "CREB1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:37:29.486475+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13733",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: creb1 has been classified as Red List (Low Evidence).",
"entity_name": "CREB1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:37:12.615877+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13732",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CREB1 as ready",
"entity_name": "CREB1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:37:12.605506+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13732",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: creb1 has been classified as Green List (High Evidence).",
"entity_name": "CREB1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:37:05.288188+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13732",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CREB1 were changed from to corpus callosum agenesis; thyroid follicular hypoplasia",
"entity_name": "CREB1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:36:55.890702+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13731",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CREB1 were set to ",
"entity_name": "CREB1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:36:49.466863+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13730",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CREB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CREB1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:36:28.183984+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13729",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CREB1: Rating: RED; Mode of pathogenicity: None; Publications: 22267179; Phenotypes: corpus callosum agenesis, thyroid follicular hypoplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CREB1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:35:50.938015+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13729",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SLC16A12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20181839, 21778275, 18304496, 29088427, 34126080; Phenotypes: Cataract 47, juvenile, with microcornea, MIM# 612018; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:25:15.539888+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13729",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CRBN as ready",
"entity_name": "CRBN",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:25:15.520092+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13729",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: crbn has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRBN",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:25:04.954191+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13729",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CRBN were changed from to Intellectual developmental disorder, autosomal recessive 2 MIM#607417",
"entity_name": "CRBN",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:24:53.573669+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13728",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRBN",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:24:53.434941+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13729",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CRBN were set to ",
"entity_name": "CRBN",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:24:41.643713+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13728",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CRBN as Amber List (moderate evidence)",
"entity_name": "CRBN",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:24:41.610162+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13728",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: crbn has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRBN",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:24:21.508513+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13727",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CRBN: Rating: AMBER; Mode of pathogenicity: None; Publications: 15557513, 28143899; Phenotypes: Intellectual developmental disorder, autosomal recessive 2 MIM#607417; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CRBN",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:20:55.987007+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13727",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CRB1 as ready",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:20:55.973876+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13727",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: crb1 has been classified as Green List (High Evidence).",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:20:46.648989+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13727",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CRB1 were changed from to Leber congenital amaurosis 8 MIM#613835; Pigmented paravenous chorioretinal atrophy MIM#172870; Retinitis pigmentosa-12 MIM#600105",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:20:34.176771+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13726",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CRB1 were set to ",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:20:27.690282+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13726",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:20:06.485645+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13725",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30285347, 32922261, 31884620, 15459956; Phenotypes: Leber congenital amaurosis 8 MIM#613835, Pigmented paravenous chorioretinal atrophy MIM#172870, Retinitis pigmentosa-12 MIM#600105; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:13:41.181222+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13725",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CPT1A as ready",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:13:41.171433+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13725",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cpt1a has been classified as Green List (High Evidence).",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:13:31.052051+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13725",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CPT1A were changed from to CPT deficiency, hepatic, type IA, MIM# 255120",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:13:18.812585+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13724",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CPT1A were set to ",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:13:13.434396+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13724",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CPT1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:12:56.186778+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13723",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12189492, 25778941, 23430932; Phenotypes: CPT deficiency, hepatic, type IA, MIM# 255120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:12:09.859885+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4731",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CPS1 were changed from Carbamoylphosphate synthetase I deficiency MIM#237300 to Carbamoylphosphate synthetase I deficiency MIM#237300",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:11:43.404285+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4731",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CPS1 were set to 8486760; 17310273; 21120950; 31268178",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:11:19.747533+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4730",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CPS1 were set to ",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:10:54.572555+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4730",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CPS1 were changed from to Carbamoylphosphate synthetase I deficiency MIM#237300",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:10:37.662066+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4730",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CPS1 as ready",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:10:37.650969+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4730",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cps1 has been classified as Green List (High Evidence).",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:10:29.244028+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4730",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:09:42.443284+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4729",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8486760, 17310273, 21120950, 31268178; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:09:20.707315+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13723",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CPS1 as ready",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:09:20.690283+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13723",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cps1 has been classified as Green List (High Evidence).",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:08:47.135079+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13723",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CPS1 were set to ",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:08:16.875233+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13722",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-05-04T20:08:02.928051+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13722",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8486760, 17310273, 21120950, 31268178; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-05-04T19:59:26.906270+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13722",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CPOX as ready",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2022-05-04T19:59:26.885901+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13722",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cpox has been classified as Green List (High Evidence).",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2022-05-04T19:57:55.923403+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13722",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CPOX were changed from to Coproporphyria, MIM#121300; Harderoporphyria, MIM#121300",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2022-05-04T19:57:43.312387+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13722",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CPOX were set to ",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2022-05-04T19:57:36.511417+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13721",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CPOX was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2022-05-04T19:57:18.249178+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13720",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30828546, 28349448, 23582006, 24156084; Phenotypes: Coproporphyria, MIM#121300, Harderoporphyria, MIM#121300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2022-05-04T19:54:53.801950+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13720",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CPN1 as ready",
"entity_name": "CPN1",
"entity_type": "gene"
},
{
"created": "2022-05-04T19:54:53.782509+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13720",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cpn1 has been classified as Red List (Low Evidence).",
"entity_name": "CPN1",
"entity_type": "gene"
},
{
"created": "2022-05-04T19:54:47.492333+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13720",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CPN1 were changed from to Carboxypeptidase N deficiency MIM#212070",
"entity_name": "CPN1",
"entity_type": "gene"
},
{
"created": "2022-05-04T19:54:36.802050+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13719",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CPN1 were set to ",
"entity_name": "CPN1",
"entity_type": "gene"
},
{
"created": "2022-05-04T19:54:35.920591+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13718",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CPN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPN1",
"entity_type": "gene"
},
{
"created": "2022-05-04T19:54:23.860685+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13718",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CPN1 as Red List (low evidence)",
"entity_name": "CPN1",
"entity_type": "gene"
},
{
"created": "2022-05-04T19:54:23.845816+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13718",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cpn1 has been classified as Red List (Low Evidence).",
"entity_name": "CPN1",
"entity_type": "gene"
},
{
"created": "2022-05-04T19:54:06.702294+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13717",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CPN1: Rating: RED; Mode of pathogenicity: None; Publications: 12560874, 7437116; Phenotypes: Carboxypeptidase N deficiency MIM#212070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CPN1",
"entity_type": "gene"
},
{
"created": "2022-05-04T19:44:48.627899+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13717",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COMP as ready",
"entity_name": "COMP",
"entity_type": "gene"
},
{
"created": "2022-05-04T19:44:48.613586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13717",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: comp has been classified as Green List (High Evidence).",
"entity_name": "COMP",
"entity_type": "gene"
},
{
"created": "2022-05-04T17:56:10.132695+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD11B1 as ready",
"entity_name": "HSD11B1",
"entity_type": "gene"
},
{
"created": "2022-05-04T17:56:10.120728+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd11b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HSD11B1",
"entity_type": "gene"
},
{
"created": "2022-05-04T17:56:01.166784+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSD11B1 were changed from to Cortisone reductase deficiency 2, MIM# 614662",
"entity_name": "HSD11B1",
"entity_type": "gene"
},
{
"created": "2022-05-04T17:55:41.057228+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSD11B1 were set to ",
"entity_name": "HSD11B1",
"entity_type": "gene"
},
{
"created": "2022-05-04T17:55:17.078832+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSD11B1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HSD11B1",
"entity_type": "gene"
},
{
"created": "2022-05-04T17:54:57.947605+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HSD11B1 as Amber List (moderate evidence)",
"entity_name": "HSD11B1",
"entity_type": "gene"
},
{
"created": "2022-05-04T17:54:57.936402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd11b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HSD11B1",
"entity_type": "gene"
},
{
"created": "2022-05-04T17:54:39.954774+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSD11B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21325058; Phenotypes: Cortisone reductase deficiency 2, MIM# 614662; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HSD11B1",
"entity_type": "gene"
},
{
"created": "2022-05-04T17:40:44.622799+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13713",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SLC14A1: Rating: RED; Mode of pathogenicity: None; Publications: 28065763, 27834480; Phenotypes: [Blood group, Kidd], MIM#111000; Mode of inheritance: Unknown",
"entity_name": "SLC14A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T17:20:38.110594+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13713",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SLC12A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26333769, 27436767, 24928908, 30763027, 24668262; Phenotypes: Developmental and epileptic encephalopathy 34, MIM# 616645, {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:39:10.959827+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HRG as ready",
"entity_name": "HRG",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:39:10.946918+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hrg has been classified as Green List (High Evidence).",
"entity_name": "HRG",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:39:02.585749+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HRG as Green List (high evidence)",
"entity_name": "HRG",
"entity_type": "gene"
}
]
}