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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1567",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1565",
"results": [
{
"created": "2020-09-30T08:45:53.149848+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coch has been classified as Green List (High Evidence).",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-30T08:45:49.725575+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COCH were changed from Deafness, non-syndromic, autosomal dominant to Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-30T08:45:37.105005+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COCH were set to ",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-30T08:45:26.370889+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COCH was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-30T08:45:13.725615+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 16151338, 28116169, 28099493, 9806553, 17561763, 21046548, 26256111, 22931125, 22610276, 18312449, 28733840, 18697796, 29449721, 32939038, 32562050; Phenotypes: Deafness, autosomal dominant 9, MIM# 601369, Deafness, autosomal recessive 110, MIM# 618094; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:50:45.431429+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COCH were changed from Deafness, autosomal dominant 9, MIM# 601369 to Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:50:23.789087+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COCH were set to 16151338; 28116169; 28099493; 9806553; 17561763; 21046548; 26256111; 22931125; 22610276; 18312449; 28733840; 18697796; 29449721",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:49:48.179989+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Mono-allelic variants: Over 50 affected individuals from more than 10 families reported, mouse model. Dominant negative effect postulated.\r\n\r\nBi-allelic variants: three families reported with bi-allelic variants in this gene and deafness. All variants are LOF, some functional data. PMIDs 29449721, 32939038, 32562050.; to: Mono-allelic variants: Over 50 affected individuals from more than 10 families reported, mouse model. Dominant negative effect postulated.\r\n\r\nBi-allelic variants: three families reported with bi-allelic variants in this gene and deafness. All variants are LOF, some functional data. PMIDs 29449721, 32939038, 32562050.",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:49:47.924956+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Over 50 affected individuals from more than 10 families reported, mouse model. Single family with two siblings reported with bi-allelic variants in this gene and deafness (homozygous LOF) in PMID 29449721, evidence for bi-allelic disease is limited.; to: Mono-allelic variants: Over 50 affected individuals from more than 10 families reported, mouse model. Dominant negative effect postulated.\r\n\r\nBi-allelic variants: three families reported with bi-allelic variants in this gene and deafness. All variants are LOF, some functional data. PMIDs 29449721, 32939038, 32562050.",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:49:30.507363+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COCH: Changed publications: 16151338, 28116169, 28099493, 9806553, 17561763, 21046548, 26256111, 22931125, 22610276, 18312449, 28733840, 18697796, 29449721, 32939038, 32562050",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:48:44.142525+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COCH were changed from Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM#\t618094Deafness, autosomal recessive 110, MIM# 618094 to Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM#\t618094",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:48:03.432924+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COCH: Changed phenotypes: Deafness, autosomal dominant 9, MIM# 601369, Deafness, autosomal recessive 110, MIM# 618094",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:47:22.150538+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COCH were changed from Deafness, autosomal dominant 9, MIM# 601369 to Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM#\t618094Deafness, autosomal recessive 110, MIM# 618094",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:46:59.298489+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COCH were set to 16151338; 28116169; 28099493; 9806553; 17561763; 21046548; 26256111; 22931125; 22610276; 18312449; 28733840; 18697796; 29449721",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:45:14.084421+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Over 50 affected individuals from more than 10 families reported, mouse model. Single family with two siblings reported with bi-allelic variants in this gene and deafness (homozygous LOF) in PMID 29449721, evidence for bi-allelic disease is limited.; to: Mono-allelic variants: Over 50 affected individuals from more than 10 families reported, mouse model. Dominant negative effect postulated.\r\n\r\nBi-allelic variants: three families reported with bi-allelic variants in this gene and deafness. All variants are LOF, some functional data. PMIDs 29449721, 32939038, 32562050.",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:43:56.470060+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COCH: Changed publications: 16151338, 28116169, 28099493, 9806553, 17561763, 21046548, 26256111, 22931125, 22610276, 18312449, 28733840, 18697796, 29449721, 32939038, 32562050",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:43:15.562508+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COCH: Changed phenotypes: Deafness, autosomal dominant 9, MIM# 601369, Deafness, autosomal recessive 110, MIM# 618094",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:37:54.351854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNOT1 were changed from Holoprosencephaly 12, with or without pancreatic agenesis; OMIM# 618500 to Vissers-Bodmer syndrome, MIM#619033; Holoprosencephaly 12, with or without pancreatic agenesis; OMIM# 618500",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:37:28.158516+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNOT1 were set to PMID: 31006513",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:36:38.351414+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNOT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:36:17.512205+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNOT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vissers-Bodmer syndrome, MIM#619033; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:35:07.096709+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNOT1 were changed from Holoprosencephaly 12, with or without pancreatic agenesis\t618500 to Vissers-Bodmer syndrome, MIM#619033; Holoprosencephaly 12, with or without pancreatic agenesis\t618500",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:34:43.431684+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNOT1 were set to 31006510; 21679367; 31006513",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:34:02.881775+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNOT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vissers-Bodmer syndrome, MIM#619033; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:31:34.721888+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ5 were changed from Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability to Coenzyme Q10 deficiency, primary 9, MIM#619028; Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability",
"entity_name": "COQ5",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:31:20.715546+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COQ5: Changed phenotypes: Coenzyme Q10 deficiency, primary 9, MIM#619028, Cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures, intellectual disability",
"entity_name": "COQ5",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:31:03.973094+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ5 were changed from Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability to Coenzyme Q10 deficiency, primary 9, MIM#619028; Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability",
"entity_name": "COQ5",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:30:32.602049+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COQ5: Changed phenotypes: Coenzyme Q10 deficiency, primary 9, MIM#619028, Cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures, intellectual disability",
"entity_name": "COQ5",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:30:16.295595+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ5 were changed from Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability to Coenzyme Q10 deficiency, primary 9, MIM#619028; Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability",
"entity_name": "COQ5",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:29:49.657079+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COQ5: Changed phenotypes: Coenzyme Q10 deficiency, primary 9, MIM#619028, Cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures, intellectual disability",
"entity_name": "COQ5",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:29:29.330616+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ5 were changed from Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability to Coenzyme Q10 deficiency, primary 9, MIM#619028; Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability",
"entity_name": "COQ5",
"entity_type": "gene"
},
{
"created": "2020-09-30T07:29:01.657227+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COQ5: Changed phenotypes: Coenzyme Q10 deficiency, primary 9, MIM#619028, Cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures, intellectual disability",
"entity_name": "COQ5",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:38:45.790356+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA3 as ready",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:38:45.779690+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata3 has been classified as Green List (High Evidence).",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:38:39.732606+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA3 were changed from to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:38:21.073373+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GATA3 were set to ",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:38:01.850027+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GATA3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:37:43.329099+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10935639, 11389161, 21120445, 26316437, 25771973, 27387476, 30396722; Phenotypes: Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:37:16.048337+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA3 as ready",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:37:16.037972+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata3 has been classified as Green List (High Evidence).",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:37:02.966107+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA3 were changed from to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:36:36.445660+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GATA3 were set to ",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:36:14.977100+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GATA3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:35:49.946765+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10935639, 11389161, 21120445, 26316437, 25771973, 27387476, 30396722; Phenotypes: Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:33:05.819040+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGF3 were set to ",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:32:46.674802+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21480479, 21306635, 18435799, 17236138, 21306635, 18701883, 8223243, 26995070, 29902227, 30504125; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:31:39.028563+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGF3 as ready",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:31:39.018317+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf3 has been classified as Green List (High Evidence).",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:31:35.535350+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF3 were changed from to Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:31:12.342675+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGF3 were set to ",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:30:50.848014+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:30:21.588790+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21480479, 21306635, 18435799, 17236138, 21306635, 18701883, 8223243, 26995070, 29902227, 30504125; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:26:29.798705+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EYA4 as ready",
"entity_name": "EYA4",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:26:29.778734+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eya4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EYA4",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:24:56.258132+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EYA4 were changed from Cardiomyopathy, dilated, 1J to Cardiomyopathy, dilated, 1J, MIM# 605362",
"entity_name": "EYA4",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:24:43.189101+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EYA4 were set to ",
"entity_name": "EYA4",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:24:32.543481+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EYA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 10769282, 30155266; Phenotypes: Cardiomyopathy, dilated, 1J, MIM# 605362; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EYA4",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:23:38.429948+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EYA4 were changed from to Deafness, autosomal dominant 10, MIM# 601316; Cardiomyopathy, dilated, 1J, MIM# 605362",
"entity_name": "EYA4",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:23:21.840676+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EYA4 were set to ",
"entity_name": "EYA4",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:23:04.430221+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EYA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EYA4",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:22:47.644155+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EYA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11159937, 17568404, 25681523, 25963406, 25242383, 26331839, 18219393, 27545760, 15735644, 10769282, 30155266; Phenotypes: Deafness, autosomal dominant 10, MIM# 601316, Cardiomyopathy, dilated, 1J, MIM# 605362; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EYA4",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:17:04.391159+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EYA4 as ready",
"entity_name": "EYA4",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:17:04.382375+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eya4 has been classified as Green List (High Evidence).",
"entity_name": "EYA4",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:17:01.836434+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EYA4 were changed from to Deafness, autosomal dominant 10, MIM# 601316",
"entity_name": "EYA4",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:16:38.385740+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EYA4 were set to ",
"entity_name": "EYA4",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:16:19.377804+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EYA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EYA4",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:15:51.758909+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EYA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11159937, 17568404, 25681523, 25963406, 25242383, 26331839, 18219393, 27545760, 15735644; Phenotypes: Deafness, autosomal dominant 10, MIM# 601316; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EYA4",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:13:24.572137+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EYA1 as ready",
"entity_name": "EYA1",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:13:24.556580+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eya1 has been classified as Green List (High Evidence).",
"entity_name": "EYA1",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:13:22.195465+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EYA1 were changed from to Branchiootic syndrome 1, MIM# 602588",
"entity_name": "EYA1",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:12:59.229813+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EYA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EYA1",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:12:35.083872+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EYA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootic syndrome 1, MIM# 602588; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EYA1",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:11:03.088342+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESPN as ready",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:11:03.075629+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: espn has been classified as Green List (High Evidence).",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:10:59.578372+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ESPN were changed from Hearing loss to Deafness, autosomal recessive 36, MIM# 609006",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:10:48.761901+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ESPN were set to ",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:10:37.969029+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ESPN as Green List (high evidence)",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:10:37.958336+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: espn has been classified as Green List (High Evidence).",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:10:26.109468+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ESPN: Rating: GREEN; Mode of pathogenicity: None; Publications: 15286153, 18973245, 26445815, 28281779, 10975527, 15930085; Phenotypes: Deafness, autosomal recessive 36, MIM# 609006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:09:20.785304+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESPN as ready",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:09:20.768014+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: espn has been classified as Red List (Low Evidence).",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:09:18.485151+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ESPN were changed from ?Usher syndrome, type 1M, 618632; Deafness, autosomal recessive 36, 609006 to Usher syndrome, type 1M, MIM#618632",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:09:04.266432+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ESPN were set to ",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:08:45.283718+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ESPN as Red List (low evidence)",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:08:45.275305+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: espn has been classified as Red List (Low Evidence).",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:08:35.301109+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ESPN: Rating: RED; Mode of pathogenicity: None; Publications: 29572253; Phenotypes: Usher syndrome, type 1M, MIM# 618632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:07:01.371079+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESPN as ready",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:07:01.359908+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: espn has been classified as Green List (High Evidence).",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:06:55.106654+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ESPN were changed from to Deafness, autosomal recessive 36, MIM# 609006; Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:06:38.926197+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ESPN were set to ",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:06:20.020237+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ESPN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:05:03.056115+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ESPN: Rating: GREEN; Mode of pathogenicity: None; Publications: 15286153, 18973245, 26445815, 28281779, 10975527, 15930085; Phenotypes: Deafness, autosomal recessive 36, MIM# 609006, Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:03:56.517516+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESPN as ready",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:03:56.507017+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: espn has been classified as Green List (High Evidence).",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:03:52.988779+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ESPN were changed from to Deafness, autosomal recessive 36, MIM# 609006; Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:03:31.351968+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ESPN were set to ",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:03:02.123808+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ESPN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T20:02:32.977841+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ESPN: Rating: GREEN; Mode of pathogenicity: None; Publications: 15286153, 18973245, 26445815, 28281779, 10975527, 15930085; Phenotypes: Deafness, autosomal recessive 36, MIM# 609006, Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2020-09-29T18:49:51.685619+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DIAPH1 as ready",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-09-29T18:49:51.676767+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: diaph1 has been classified as Green List (High Evidence).",
"entity_name": "DIAPH1",
"entity_type": "gene"
}
]
}