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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1461",
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"results": [
{
"created": "2020-12-28T18:18:42.502822+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX2 were set to ",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:18:11.004443+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:17:36.658096+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30450772, 28121235, 25542770, 24498598, 24211324, 24033328, 21326281; Phenotypes: Microphthalmia, syndromic 3, MIM# 206900, Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:17:30.718878+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX2 were changed from to Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:17:14.708298+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX2 were set to ",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:16:58.892224+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:16:11.184066+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30450772, 28121235, 25542770, 24498598, 24211324, 24033328, 21326281; Phenotypes: Microphthalmia, syndromic 3, MIM# 206900, Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:14:28.825126+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIX6 as ready",
"entity_name": "SIX6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:14:28.817533+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six6 has been classified as Green List (High Evidence).",
"entity_name": "SIX6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:14:02.644451+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX2 as ready",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:14:02.632951+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox2 has been classified as Green List (High Evidence).",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:13:59.706849+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX2 were changed from to Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:13:33.085225+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX2 were set to ",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:13:06.252501+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:12:37.540655+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30450772, 28121235, 25542770, 24498598, 24211324, 24033328, 21326281; Phenotypes: Microphthalmia, syndromic 3, MIM# 206900, Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:08:22.073566+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIX6 were changed from to Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550",
"entity_name": "SIX6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:08:10.330965+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIX6 as ready",
"entity_name": "SIX6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:08:10.300313+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six6 has been classified as Green List (High Evidence).",
"entity_name": "SIX6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:08:01.744917+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIX6 were set to ",
"entity_name": "SIX6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:08:01.703390+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIX6 were changed from to Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550",
"entity_name": "SIX6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:07:30.705737+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SIX6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:07:11.227627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23167593, 24702266, 33108933, 31207931, 24702266; Phenotypes: Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SIX6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:07:07.215557+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIX6 were set to ",
"entity_name": "SIX6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:06:36.767148+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SIX6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:06:07.718445+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23167593, 24702266, 33108933, 31207931, 24702266; Phenotypes: Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SIX6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:01:17.961917+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIX3 as ready",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:01:17.953000+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six3 has been classified as Green List (High Evidence).",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:01:10.410872+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIX3 were changed from to Holoprosencephaly 2, MIM# 157170",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:00:42.637575+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIX3 were set to ",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:00:18.586453+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2020-12-28T17:59:40.360204+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21976454; Phenotypes: Holoprosencephaly 2, MIM# 157170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2020-12-28T17:58:28.442776+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHH as ready",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2020-12-28T17:58:28.426670+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shh has been classified as Green List (High Evidence).",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2020-12-28T17:58:25.743699+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHH were changed from to Microphthalmia with coloboma 5, MIM# 611638; Holoprosencephaly 3, MIM# 142945",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2020-12-28T17:57:56.961340+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHH were set to ",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2020-12-28T17:57:29.612008+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2020-12-28T17:56:50.542051+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: None; Publications: 21976454, 12503095; Phenotypes: Microphthalmia with coloboma 5, MIM# 611638, Holoprosencephaly 3, MIM# 142945; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:32:24.294104+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RERE as ready",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:32:24.268063+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rere has been classified as Green List (High Evidence).",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:32:21.072990+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RERE were changed from to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:31:52.072924+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RERE were set to ",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:31:16.879058+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RERE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:30:46.403617+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27087320, 23451234, 30896913, 30061196; Phenotypes: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:30:12.250716+11:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RERE as ready",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:30:12.242533+11:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rere has been classified as Green List (High Evidence).",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:30:09.833626+11:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RERE were changed from to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:29:41.484822+11:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RERE were set to ",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:29:07.001809+11:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RERE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:28:36.768842+11:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27087320, 23451234, 30896913, 30061196; Phenotypes: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:28:03.596168+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RERE as ready",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:28:03.583975+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rere has been classified as Green List (High Evidence).",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:27:58.731039+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RERE were changed from to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:27:27.598389+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RERE were set to ",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:26:54.224651+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RERE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:26:21.244782+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27087320, 23451234, 30896913, 30061196; Phenotypes: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:25:31.590764+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RERE as ready",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:25:31.578821+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rere has been classified as Green List (High Evidence).",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:25:24.276579+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RERE were changed from to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:25:05.545794+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RERE were set to ",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:24:46.023661+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RERE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:24:27.257204+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27087320, 23451234, 30896913, 30061196; Phenotypes: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:23:03.347199+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RERE as ready",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:23:03.338022+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rere has been classified as Green List (High Evidence).",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:23:00.229493+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RERE were changed from to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:22:31.106137+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RERE were set to ",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:22:00.433158+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RERE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T16:21:31.730026+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27087320, 23451234, 30896913, 30061196; Phenotypes: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:49:54.638784+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKZF5 were changed from Thrombocytopaenia to Thrombocytopaenia 7, MIM#619130",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:49:36.762445+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IKZF5: Changed phenotypes: Thrombocytopaenia 7, MIM#619130",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:49:19.647385+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKZF5 were changed from Thrombocytopaenia to Thrombocytopaenia 7, MIM#619130",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:48:48.207842+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IKZF5: Changed phenotypes: Thrombocytopaenia 7, MIM#619130",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:46:57.704829+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCB6 as ready",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:46:57.692206+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb6 has been classified as Red List (Low Evidence).",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:46:27.481194+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAX as ready",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:46:27.472883+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rax has been classified as Green List (High Evidence).",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:46:25.096361+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAX were changed from to Microphthalmia, isolated 3, MIM# 611038",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:46:11.966914+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAX as ready",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:46:11.955038+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rax has been classified as Green List (High Evidence).",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:46:02.218411+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAX were changed from Microphthalmia, isolated 3, MIM# 611038 to Microphthalmia, isolated 3, MIM# 611038",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:45:53.156138+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAX were changed from to Microphthalmia, isolated 3, MIM# 611038",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:45:33.208408+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAX were set to ",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:45:13.651932+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:44:54.433422+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAX were set to ",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:44:53.967326+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: None; Publications: 14662654, 18783408, 30811539, 24033328, 22524605; Phenotypes: Microphthalmia, isolated 3, MIM# 611038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:44:11.833904+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:43:40.538918+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: None; Publications: 14662654, 18783408, 30811539, 24033328, 22524605; Phenotypes: Microphthalmia, isolated 3, MIM# 611038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:40:34.875357+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RARA as ready",
"entity_name": "RARA",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:40:34.866996+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rara has been classified as Red List (Low Evidence).",
"entity_name": "RARA",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:40:27.875858+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RARA was added\ngene: RARA was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: RARA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RARA were set to 31343737\nPhenotypes for gene: RARA were set to Syndromic chorioretinal coloboma\nReview for gene: RARA was set to RED\nAdded comment: Single case report of de novo missense variant in association with syndromic coloboma. \nSources: Literature",
"entity_name": "RARA",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:39:08.718483+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RARB as ready",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:39:08.704786+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rarb has been classified as Green List (High Evidence).",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:39:04.625925+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RARB were changed from to Microphthalmia, syndromic 12, MIM# 615524",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:38:32.193610+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RARB were set to ",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:38:02.070662+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RARB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:37:28.672611+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RARB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30880327, 30281527, 24075189, 27120018, 25457163, 17506106; Phenotypes: Microphthalmia, syndromic 12, MIM# 615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:36:52.790367+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RARB as ready",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:36:52.782184+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rarb has been classified as Green List (High Evidence).",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:36:45.458374+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RARB were changed from to Microphthalmia, syndromic 12, MIM# 615524",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:36:26.814305+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RARB were set to ",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2020-12-28T14:36:08.692470+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: RARB was changed from to Other",
"entity_name": "RARB",
"entity_type": "gene"
}
]
}