HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=247",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=245",
"results": [
{
"created": "2025-04-30T11:46:46.138763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2516",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: UGGT1 as ready",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:46:46.131978+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2516",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: uggt1 has been classified as Green List (High Evidence).",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:46:00.903196+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2516",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Phenotypes for gene: UGGT1 were changed from to Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:45:47.147564+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2515",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: UGGT1 were set to ",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:45:28.363729+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2514",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Mode of inheritance for gene: UGGT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:44:49.479591+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2513",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: UGGT1 as Green List (high evidence)",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:44:49.472213+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2513",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: uggt1 has been classified as Green List (High Evidence).",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:44:14.052685+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.66",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: UGGT1 as ready",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:44:14.043438+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.66",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: uggt1 has been classified as Green List (High Evidence).",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:43:55.303772+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.66",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: UGGT1 as Green List (high evidence)",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:43:55.297045+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.66",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: uggt1 has been classified as Green List (High Evidence).",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:43:07.017315+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.207",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: UGGT1 as Green List (high evidence)",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:43:07.010668+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.207",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: uggt1 has been classified as Green List (High Evidence).",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:42:05.961655+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.442",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: UGGT1 as Green List (high evidence)",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:42:05.951208+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.442",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: uggt1 has been classified as Green List (High Evidence).",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:41:47.881083+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.441",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: UGGT1 as Green List (high evidence)",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:41:47.872537+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.441",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: uggt1 has been classified as Green List (High Evidence).",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:41:44.013166+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.440",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: UGGT1 as ready",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:41:44.005338+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.440",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: uggt1 has been classified as Red List (Low Evidence).",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:41:00.324662+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.11",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Mode of inheritance for gene: UGGT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:40:46.891728+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.11",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Mode of inheritance for gene: UGGT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:40:36.069899+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.10",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: UGGT1 as ready",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:40:36.061085+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.10",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: uggt1 has been classified as Green List (High Evidence).",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:40:34.318494+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.10",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: UGGT1 as Green List (high evidence)",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:40:34.312325+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.10",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: uggt1 has been classified as Green List (High Evidence).",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:40:20.640710+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.10",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: UGGT1 as Green List (high evidence)",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:40:20.630074+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.10",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: uggt1 has been classified as Green List (High Evidence).",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:39:50.498823+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.9",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: Genitourinary anomalies such as cryptorchidism reported\r\n\r\n--\r\n\r\nPMID: 40267907 Dardas et al 2025 report 15 affected individuals from 10 unrelated families with biallelic UGGT1 variants. Affected individuals had GDD and intellectual disability of varying severity.\r\n\r\nOther cardinal clinical features included microcephaly, seizures, craniofacial dysmorphism, and behavioral abnormalities (autism, ADHD). More variable features included congenital heart disease, cryptorchism; renal anomalies; hepatomegaly; recurrent infections; and skeletal anomalies (scoliosis and/or vertebral anomalies).\r\n\r\nSupportive functional evidence also provided. \r\nSources: Literature; to: Genitourinary anomalies such as cryptorchidism reported\r\n\r\n--\r\n\r\nPMID: 40267907 Dardas et al 2025 report 15 affected individuals from 10 unrelated families with biallelic UGGT1 variants. Affected individuals had GDD and intellectual disability of varying severity.\r\n\r\nOther cardinal clinical features included microcephaly, seizures, craniofacial dysmorphism, and behavioral abnormalities (autism, ADHD). More variable features included congenital heart disease, cryptorchism; renal anomalies; hepatomegaly; recurrent infections; and skeletal anomalies (scoliosis and/or vertebral anomalies).\r\n\r\nSupportive functional evidence also provided. \r\nSources: Literature",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:11:42.458536+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.9",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: Genitourinary anomalies such as cryptorchidism reported\r\n\r\n--\r\n\r\nPMID: 40267907 Dardas et al 2025 report 15 affected individuals from 10 unrelated families with biallelic UGGT1 variants. Affected individuals had GDD and intellectual disability of varying severity.\r\n\r\nOther cardinal clinical features included microcephaly, seizures, craniofacial dysmorphism, and behavioral abnormalities (autism, ADHD). More variable features included congenital heart disease, cryptorchism; renal anomalies; hepatomegaly; recurrent infections; and skeletal anomalies (scoliosis and/or vertebral anomalies).\r\n\r\nSupportive functional evidence also provided. \nSources: Literature; to: Genitourinary anomalies such as cryptorchidism reported\r\n\r\n--\r\n\r\nPMID: 40267907 Dardas et al 2025 report 15 affected individuals from 10 unrelated families with biallelic UGGT1 variants. Affected individuals had GDD and intellectual disability of varying severity.\r\n\r\nOther cardinal clinical features included microcephaly, seizures, craniofacial dysmorphism, and behavioral abnormalities (autism, ADHD). More variable features included congenital heart disease, cryptorchism; renal anomalies; hepatomegaly; recurrent infections; and skeletal anomalies (scoliosis and/or vertebral anomalies).\r\n\r\nSupportive functional evidence also provided. \r\nSources: Literature",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:11:32.813647+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.9",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: UGGT1 was added\ngene: UGGT1 was added to Differences of Sex Development. Sources: Literature\nMode of inheritance for gene: UGGT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UGGT1 were set to Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG\nReview for gene: UGGT1 was set to GREEN\nAdded comment: Genitourinary anomalies such as cryptorchidism reported\r\n\r\n--\r\n\r\nPMID: 40267907 Dardas et al 2025 report 15 affected individuals from 10 unrelated families with biallelic UGGT1 variants. Affected individuals had GDD and intellectual disability of varying severity.\r\n\r\nOther cardinal clinical features included microcephaly, seizures, craniofacial dysmorphism, and behavioral abnormalities (autism, ADHD). More variable features included congenital heart disease, cryptorchism; renal anomalies; hepatomegaly; recurrent infections; and skeletal anomalies (scoliosis and/or vertebral anomalies).\r\n\r\nSupportive functional evidence also provided. \nSources: Literature",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:10:19.919042+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.440",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: UGGT1 was added\ngene: UGGT1 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: UGGT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UGGT1 were set to PMID:40267907\nPhenotypes for gene: UGGT1 were set to Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG\nAdded comment: PMID: 40267907 Dardas et al 2025 report 15 affected individuals from 10 unrelated families with biallelic UGGT1 variants. Affected individuals had GDD and intellectual disability of varying severity.\r\n\r\nOther cardinal clinical features included microcephaly, seizures, craniofacial dysmorphism, and behavioral abnormalities (autism, ADHD). More variable features included congenital heart disease, cryptorchism; renal anomalies (cystic/dysplastic kidneys in 2 individuals simiilar in appearance to ARPKD); hepatomegaly; recurrent infections; and skeletal anomalies (scoliosis and/or vertebral anomalies).\r\n\r\nSupportive functional evidence also provided. \nSources: Literature",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:08:48.321409+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.84",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: UGGT1 was added\ngene: UGGT1 was added to Renal Macrocystic Disease. Sources: Literature\nMode of inheritance for gene: UGGT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UGGT1 were set to PMID:40267907\nPhenotypes for gene: UGGT1 were set to Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG\nReview for gene: UGGT1 was set to AMBER\nAdded comment: PMID: 40267907 Dardas et al 2025 report 15 affected individuals from 10 unrelated families with biallelic UGGT1 variants and CDG/multisystem disorder with clinical features including GDD/ID, \r\n microcephaly, seizures, craniofacial dysmorphism, and behavioral abnormalities (autism, ADHD). More variable features included congenital heart disease, cryptorchism; recurrent infections; and skeletal anomalies (scoliosis and/or vertebral anomalies).Supportive functional evidence also provided.\r\n\r\nOf note, two individuals reported with cystic renal dysplasia and hepatobiliary anomalies that were similar in apperaance to ARPKD. \nSources: Literature",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:05:40.903649+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.206",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: UGGT1 was added\ngene: UGGT1 was added to Autism. Sources: Literature\nMode of inheritance for gene: UGGT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UGGT1 were set to PMID:40267907\nPhenotypes for gene: UGGT1 were set to Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG\nReview for gene: UGGT1 was set to GREEN\nAdded comment: PMID: 40267907 Dardas et al 2025 report 15 affected individuals from 10 unrelated families with biallelic UGGT1 variants. Affected individuals had GDD and intellectual disability of varying severity.\r\n\r\nOther cardinal clinical features included microcephaly, seizures, craniofacial dysmorphism, and behavioral abnormalities (autism, ADHD). More variable features included congenital heart disease, cryptorchism; renal anomalies (cystic/dysplastic kidneys in 2 individuals simiilar in appearance to ARPKD); hepatomegaly; recurrent infections; and skeletal anomalies (scoliosis and/or vertebral anomalies).\r\n\r\nSupportive functional evidence also provided. \nSources: Literature",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T11:02:58.433094+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.304",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: UGGT1 was added\ngene: UGGT1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: UGGT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UGGT1 were set to PMID:40267907\nPhenotypes for gene: UGGT1 were set to Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG\nReview for gene: UGGT1 was set to GREEN\nAdded comment: PMID: 40267907 Dardas et al 2025 report 15 affected individuals from 10 unrelated families with biallelic UGGT1 variants. Affected individuals had GDD and intellectual disability of varying severity.\r\n\r\nOther cardinal clinical features included microcephaly, seizures, craniofacial dysmorphism, and behavioral abnormalities (autism, ADHD) . More variable features included congenital heart disease, cryptorchism; renal anomalies (cystic/dysplastic kidneys in 2 individuals simiilar in appearance to ARPKD); hepatomegaly; recurrent infections; and skeletal anomalies (scoliosis and/or vertebral anomalies).\r\n\r\nSupportive functional evidence also provided. \nSources: Literature",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T10:44:18.502737+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.65",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: UGGT1 was added\ngene: UGGT1 was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: UGGT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UGGT1 were set to PMID: 40267907\nPhenotypes for gene: UGGT1 were set to Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG\nReview for gene: UGGT1 was set to GREEN\nAdded comment: PMID: 40267907 Dardas et al 2025 report 15 affected individuals from 10 unrelated families with biallelic UGGT1 variants. Affected individuals had GDD and intellectual disability of varying severity.\r\n\r\nOther cardinal clinical features included microcephaly, seizures, craniofacial dysmorphism, and behavioral abnormalities (autism, ADHD) . More variable features included congenital heart disease, cryptorchism; renal anomalies (cystic/dysplastic kidneys in 2 individuals simiilar in appearance to ARPKD); hepatomegaly; recurrent infections; and skeletal anomalies (scoliosis and/or vertebral anomalies).\r\n\r\nSupportive functional evidence also provided. \nSources: Literature",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T10:44:09.471784+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.119",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: UGGT1 was added\ngene: UGGT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: UGGT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UGGT1 were set to PMID: 40267907\nPhenotypes for gene: UGGT1 were set to Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG\nReview for gene: UGGT1 was set to GREEN\nAdded comment: PMID: 40267907 Dardas et al 2025 report 15 affected individuals from 10 unrelated families with biallelic UGGT1 variants. \r\n\r\nAffected individuals had GDD and intellectual disability of varying severity. Other cardinal clinical features included microcephaly, seizures, craniofacial dysmorphism, and behavioral abnormalities (autism, ADHD) . More variable features included congenital heart disease, cryptorchism; renal anomalies (cystic/dysplastic kidneys in 2 individuals simiilar in appearance to ARPKD); hepatomegaly; recurrent infections; and skeletal anomalies (scoliosis and/or vertebral anomalies).\r\n\r\nSupportive functional evidence also provided. \nSources: Literature",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T10:40:12.064910+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2512",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: UGGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40267907; Phenotypes: Congenital disorder of glycosylation - MONDO:0015286, UGGT1-CDG; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-04-30T10:25:50.680146+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2512",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: IFT57: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:40273360; Phenotypes: Bardet-Bield syndrome, ciliopathy - MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT57",
"entity_type": "gene"
},
{
"created": "2025-04-30T10:24:09.777765+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.67",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: IFT57 was added\ngene: IFT57 was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: IFT57 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT57 were set to PMID:40273360\nPhenotypes for gene: IFT57 were set to Bardet-Bield syndrome; ciliopathy - MONDO:0005308\nReview for gene: IFT57 was set to AMBER\nAdded comment: PMID:40273360 Nitoiu et al 2025 report a male with clinical features of Bardet-Biedl syndrome. Phenotypic features include:\r\n- Vision issues - night vision loss, progressive cone-rod dystrophy leading to legal blindness\r\n- Post-axial polydactyly\r\n- Obesity and type 2 diabetes\r\n- Learning difficulties\r\n- Moderate sensorineural hearing loss\r\n\r\nBiallelic IFT57 variants were identified on short-read genomic sequencing after negative panel-based clinical testing - NM_018010.4 (IFT57): c.1190 T>A;p.(Val397Glu) and c.675del; p.(Lys225Asnfs∗17).\r\n\r\nPatient-derived fibroblasts had fewer primary cilia, abnormal ciliary morphology and abnormal anterograde transport in the primary cilia. IFT57 knockout mouse models did not form primary cilia. Treatment with IFT57-WT restored cilia formation while IFT57-Val397Glu only partially rescued cilia formation in Ift57-KO-mouse cells. \nSources: Literature",
"entity_name": "IFT57",
"entity_type": "gene"
},
{
"created": "2025-04-30T10:22:28.751012+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.282",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: IFT57 was added\ngene: IFT57 was added to Polydactyly. Sources: Literature\nMode of inheritance for gene: IFT57 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT57 were set to PMID:40273360\nPhenotypes for gene: IFT57 were set to Bardet-Bield syndrome; ciliopathy - MONDO:0005308\nReview for gene: IFT57 was set to AMBER\nAdded comment: PMID:40273360 Nitoiu et al 2025 report a male with clinical features of Bardet-Biedl syndrome. Phenotypic features include:\r\n- Vision issues - night vision loss, progressive cone-rod dystrophy leading to legal blindness\r\n- Post-axial polydactyly\r\n- Learning difficulties\r\n- Obesity and type 2 diabetes\r\n- Moderate sensorineural hearing loss\r\n\r\nBiallelic IFT57 variants were identified on short-read genomic sequencing after negative panel-based clinical testing - NM_018010.4 (IFT57): c.1190 T>A;p.(Val397Glu) and c.675del; p.(Lys225Asnfs∗17).\r\n\r\nPatient-derived fibroblasts had fewer primary cilia, abnormal ciliary morphology and abnormal anterograde transport in the primary cilia. IFT57 knockout mouse models did not form primary cilia. Treatment with IFT57-WT restored cilia formation while IFT57-Val397Glu only partially rescued cilia formation in Ift57-KO-mouse cells. \nSources: Literature",
"entity_name": "IFT57",
"entity_type": "gene"
},
{
"created": "2025-04-30T10:22:06.514468+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.55",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: PMID:40273360 Nitoiu et al 2025 report a male with clinical features of Bardet-Biedl syndrome. Phenotypic features include:\r\n- Vision issues - night vision loss, progressive cone-rod dystrophy leading to legal blindness\r\n- Post-axial polydactyly\r\n- Obesity and type 2 diabetes\r\n- Moderate sensorineural hearing loss\r\n\r\nBiallelic IFT57 variants were identified on short-read genomic sequencing after negative panel-based clinical testing - NM_018010.4 (IFT57): c.1190 T>A;p.(Val397Glu) and c.675del; p.(Lys225Asnfs∗17).\r\n\r\nPatient-derived fibroblasts had fewer primary cilia, abnormal ciliary morphology and abnormal anterograde transport in the primary cilia. IFT57 knockout mouse models did not form primary cilia. Treatment with IFT57-WT restored cilia formation while IFT57-Val397Glu only partially rescued cilia formation in Ift57-KO-mouse cells. \nSources: Literature; to: PMID:40273360 Nitoiu et al 2025 report a male with clinical features of Bardet-Biedl syndrome. Phenotypic features include:\r\n- Vision issues - night vision loss, progressive cone-rod dystrophy leading to legal blindness\r\n- Post-axial polydactyly\r\n- Obesity and type 2 diabetes\r\n- Learning difficulties\r\n- Moderate sensorineural hearing loss\r\n\r\nBiallelic IFT57 variants were identified on short-read genomic sequencing after negative panel-based clinical testing - NM_018010.4 (IFT57): c.1190 T>A;p.(Val397Glu) and c.675del; p.(Lys225Asnfs∗17).\r\n\r\nPatient-derived fibroblasts had fewer primary cilia, abnormal ciliary morphology and abnormal anterograde transport in the primary cilia. IFT57 knockout mouse models did not form primary cilia. Treatment with IFT57-WT restored cilia formation while IFT57-Val397Glu only partially rescued cilia formation in Ift57-KO-mouse cells. \r\nSources: Literature",
"entity_name": "IFT57",
"entity_type": "gene"
},
{
"created": "2025-04-30T10:21:54.559833+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "1.11",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: PMID:40273360 Nitoiu et al 2025 report a male with clinical features of Bardet-Biedl syndrome. Phenotypic features include:\r\n- Vision issues - night vision loss, progressive cone-rod dystrophy leading to legal blindness\r\n- Post-axial polydactyly\r\n- Obesity and type 2 diabetes\r\n- Moderate sensorineural hearing loss\r\n\r\nBiallelic IFT57 variants were identified on short-read genomic sequencing after negative panel-based clinical testing - NM_018010.4 (IFT57): c.1190 T>A;p.(Val397Glu) and c.675del; p.(Lys225Asnfs∗17).\r\n\r\nPatient-derived fibroblasts had fewer primary cilia, abnormal ciliary morphology and abnormal anterograde transport in the primary cilia. IFT57 knockout mouse models did not form primary cilia. Treatment with IFT57-WT restored cilia formation while IFT57-Val397Glu only partially rescued cilia formation in Ift57-KO-mouse cells. \nSources: Literature; to: PMID:40273360 Nitoiu et al 2025 report a male with clinical features of Bardet-Biedl syndrome. Phenotypic features include:\r\n- Vision issues - night vision loss, progressive cone-rod dystrophy leading to legal blindness\r\n- Post-axial polydactyly\r\n- Learning difficulties\r\n- Obesity and type 2 diabetes\r\n\r\n- Moderate sensorineural hearing loss\r\n\r\nBiallelic IFT57 variants were identified on short-read genomic sequencing after negative panel-based clinical testing - NM_018010.4 (IFT57): c.1190 T>A;p.(Val397Glu) and c.675del; p.(Lys225Asnfs∗17).\r\n\r\nPatient-derived fibroblasts had fewer primary cilia, abnormal ciliary morphology and abnormal anterograde transport in the primary cilia. IFT57 knockout mouse models did not form primary cilia. Treatment with IFT57-WT restored cilia formation while IFT57-Val397Glu only partially rescued cilia formation in Ift57-KO-mouse cells. \r\nSources: Literature",
"entity_name": "IFT57",
"entity_type": "gene"
},
{
"created": "2025-04-30T10:19:05.412570+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.55",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: IFT57 was added\ngene: IFT57 was added to Cone-rod Dystrophy. Sources: Literature\nMode of inheritance for gene: IFT57 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT57 were set to PMID:40273360\nPhenotypes for gene: IFT57 were set to Bardet-Bield syndrome; ciliopathy - MONDO:0005308\nReview for gene: IFT57 was set to AMBER\nAdded comment: PMID:40273360 Nitoiu et al 2025 report a male with clinical features of Bardet-Biedl syndrome. Phenotypic features include:\r\n- Vision issues - night vision loss, progressive cone-rod dystrophy leading to legal blindness\r\n- Post-axial polydactyly\r\n- Obesity and type 2 diabetes\r\n- Moderate sensorineural hearing loss\r\n\r\nBiallelic IFT57 variants were identified on short-read genomic sequencing after negative panel-based clinical testing - NM_018010.4 (IFT57): c.1190 T>A;p.(Val397Glu) and c.675del; p.(Lys225Asnfs∗17).\r\n\r\nPatient-derived fibroblasts had fewer primary cilia, abnormal ciliary morphology and abnormal anterograde transport in the primary cilia. IFT57 knockout mouse models did not form primary cilia. Treatment with IFT57-WT restored cilia formation while IFT57-Val397Glu only partially rescued cilia formation in Ift57-KO-mouse cells. \nSources: Literature",
"entity_name": "IFT57",
"entity_type": "gene"
},
{
"created": "2025-04-30T10:17:27.229737+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "1.11",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: IFT57 was added\ngene: IFT57 was added to Bardet Biedl syndrome. Sources: Literature\nMode of inheritance for gene: IFT57 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT57 were set to PMID:40273360\nPhenotypes for gene: IFT57 were set to Bardet-Bield syndrome; ciliopathy - MONDO:0005308\nReview for gene: IFT57 was set to AMBER\nAdded comment: PMID:40273360 Nitoiu et al 2025 report a male with clinical features of Bardet-Biedl syndrome. Phenotypic features include:\r\n- Vision issues - night vision loss, progressive cone-rod dystrophy leading to legal blindness\r\n- Post-axial polydactyly\r\n- Obesity and type 2 diabetes\r\n- Moderate sensorineural hearing loss\r\n\r\nBiallelic IFT57 variants were identified on short-read genomic sequencing after negative panel-based clinical testing - NM_018010.4 (IFT57): c.1190 T>A;p.(Val397Glu) and c.675del; p.(Lys225Asnfs∗17).\r\n\r\nPatient-derived fibroblasts had fewer primary cilia, abnormal ciliary morphology and abnormal anterograde transport in the primary cilia. IFT57 knockout mouse models did not form primary cilia. Treatment with IFT57-WT restored cilia formation while IFT57-Val397Glu only partially rescued cilia formation in Ift57-KO-mouse cells. \nSources: Literature",
"entity_name": "IFT57",
"entity_type": "gene"
},
{
"created": "2025-04-29T14:24:24.081771+10:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOB as ready",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2025-04-29T14:24:24.074554+10:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apob has been classified as Green List (High Evidence).",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2025-04-29T10:29:58.512360+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.118",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: DLG3 were changed from Mental retardation, X-linked 90, MIM#300850 to Intellectual developmental disorder, X-linked 90 MIM#300850",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2025-04-29T10:28:56.174022+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2512",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: DLG3 were changed from Mental retardation, X-linked 90, MIM#300850 to Intellectual developmental disorder, X-linked 90 MIM#300850",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:24:56.259457+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD40 as ready",
"entity_name": "CD40",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:24:56.252941+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd40 has been classified as Green List (High Evidence).",
"entity_name": "CD40",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:24:54.010341+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD40 were changed from Immunodeficiency with hyper-IgM, type 3, 606843 (3) to Immunodeficiency with hyper-IgM, type 3, MIM# 606843",
"entity_name": "CD40",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:24:33.125816+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD3D as ready",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:24:33.119217+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd3d has been classified as Green List (High Evidence).",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:24:30.524209+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD3D were changed from Immunodeficiency 19, 615617 (3) to Immunodeficiency 19, severe combined MIM# 615617",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:24:12.106523+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC88C as ready",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:24:12.100122+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc88c has been classified as Green List (High Evidence).",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:24:09.330262+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC88C were changed from Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3) to Hydrocephalus, congenital, 1 MIM#236600",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:24:00.415718+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC88C were set to ",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:23:41.248842+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC39 as ready",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:23:41.241402+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc39 has been classified as Green List (High Evidence).",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:23:38.915775+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC39 were changed from Ciliary dyskinesia, primary, 14, 613807 (3) to Ciliary dyskinesia, primary, 14 MIM#613807",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:23:29.734013+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC39 were set to ",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:23:14.761537+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC103 as ready",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:23:14.754474+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc103 has been classified as Green List (High Evidence).",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:23:12.415949+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC103 were changed from Ciliary dyskinesia, primary, 17, 614679 (3) to Primary ciliary dyskinesia-17, MIM # 614679",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:23:03.579129+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC103 were set to ",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:22:36.609134+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCBE1 as ready",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:22:36.595678+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccbe1 has been classified as Green List (High Evidence).",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:22:33.997638+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCBE1 were changed from Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3) to Hennekam lymphangiectasia-lymphoedema syndrome 1 MIM#235510",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:22:19.710776+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCBE1 were set to ",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:22:02.527051+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CC2D2A as ready",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:22:02.519173+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cc2d2a has been classified as Green List (High Evidence).",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:21:58.519021+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D2A were changed from Joubert syndrome 9, 612285 (3) to COACH syndrome, MIM#216360; Joubert syndrome 9, MIM#612285; Meckel syndrome 6, MIM#612284; Retinitis pigmentosa 93, MIM# 619845",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:21:47.119222+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CC2D2A were set to ",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:21:24.975600+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CC2D1A as ready",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:21:24.968059+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cc2d1a has been classified as Green List (High Evidence).",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:18:53.606353+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D1A were changed from Mental retardation, autosomal recessive 3, 608443 (3) to Intellectual developmental disorder, autosomal recessive 3, MIM# 608443",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:18:44.031904+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CC2D1A were set to ",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:18:25.717942+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASQ2 as ready",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:18:25.711704+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casq2 has been classified as Green List (High Evidence).",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:18:23.460832+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASQ2 were changed from Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3) to Ventricular tachycardia, catecholaminergic polymorphic, 2 (MIM#611938)",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:17:45.594462+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASK as ready",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:17:45.584191+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cask has been classified as Green List (High Evidence).",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:17:43.456236+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASK were changed from Mental retardation, with or without nystagmus to X-linked syndromic intellectual disability MONDO:0020119",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:17:35.073585+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CASK were set to ",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:17:03.365607+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNE as ready",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:17:03.352032+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gne has been classified as Red List (Low Evidence).",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:17:00.783425+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNE were changed from Inclusion body myopathy, autosomal recessive, 600737 (3) to Nonaka myopathy MIM#605820; Thrombocytopenia 12 with or without myopathy MIM#620757",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:16:51.975742+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNE were set to ",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:16:32.456716+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNE as Red List (low evidence)",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:16:32.449729+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gne has been classified as Red List (Low Evidence).",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:16:02.467219+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN3 as ready",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:16:02.460416+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:16:00.215801+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3, 204200 (3) to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; MONDO:0008767",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:15:51.527534+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLN3 were set to ",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:15:42.734100+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLN3 as Amber List (moderate evidence)",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-04-28T18:15:42.723691+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-04-28T14:50:04.802330+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "2.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: GPR143.",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2025-04-28T14:30:37.004651+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2511",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NUDT2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: intellectual developmental disorder with or without peripheral neuropathy, MONDO:0859240; Mode of inheritance: None",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2025-04-28T11:04:02.547241+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2511",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NLRP2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Oocyte/zygote/embryo maturation arrest 18, MONDO:0957230; Mode of inheritance: None",
"entity_name": "NLRP2",
"entity_type": "gene"
}
]
}