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=1696",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1694",
"results": [
{
"created": "2020-08-01T11:53:10.920463+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUDT15 were changed from {Thiopurines, poor metabolism of, 2}\t616903; Azathioprine to {Thiopurines, poor metabolism of, 2}\t616903; Azathioprine; Mercaptopurine",
"entity_name": "NUDT15",
"entity_type": "gene"
},
{
"created": "2020-08-01T11:52:53.210299+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NUDT15: Changed phenotypes: {Thiopurines, poor metabolism of, 2} 616903, Azathioprine, Mercaptopurine",
"entity_name": "NUDT15",
"entity_type": "gene"
},
{
"created": "2020-08-01T11:52:00.690339+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CYP2C9: Added comment: Activity levels of CYP2C9 are at 1-2% of adult values in the fetus during the first trimester. These levels gradually increase to 30% of adult values at term. There is a high variability in these levels during the first 5 months of life, with levels eventually approaching adult values somewhere between 5 months and 2 years of age.; Changed phenotypes: Warfarin sensitivity, MIM# 122700, Phenytoin",
"entity_name": "CYP2C9",
"entity_type": "gene"
},
{
"created": "2020-08-01T11:49:29.105386+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPMT were changed from {Thiopurines, poor metabolism of, 1}, MIM#\t610460; Azathioprine to {Thiopurines, poor metabolism of, 1}, MIM#\t610460; Azathioprine; Mercaptopurine",
"entity_name": "TPMT",
"entity_type": "gene"
},
{
"created": "2020-08-01T11:49:17.400756+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TPMT: Changed phenotypes: {Thiopurines, poor metabolism of, 1}, MIM# 610460, Azathioprine, Mercaptopurine",
"entity_name": "TPMT",
"entity_type": "gene"
},
{
"created": "2020-08-01T11:28:47.670895+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAPK1 as ready",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2020-08-01T11:28:47.661920+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk1 has been classified as Green List (High Evidence).",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2020-08-01T11:28:43.917597+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAPK1 as Green List (high evidence)",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2020-08-01T11:28:43.907687+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk1 has been classified as Green List (High Evidence).",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2020-08-01T11:28:17.116865+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAPK1 was added\ngene: MAPK1 was added to Rasopathy. Sources: Literature\nMode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAPK1 were set to 32721402\nPhenotypes for gene: MAPK1 were set to Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin\nReview for gene: MAPK1 was set to GREEN\nAdded comment: Motta et al (2020 - PMID: 32721402) report on 7 unrelated individuals harboring de novo missense MAPK1 pathogenic variants.\r\n\r\nThe phenotype corresponded to a neurodevelopmental disorder and - as the authors comment - consistently included DD, ID , behavioral problems. Postnatal growth delay was observed in approximately half. Hypertelorism, ptosis, downslant of palpebral fissures, wide nasal bridge as low-set/posteriorly rotated ears were among the facial features observed (each in 3 or more subjects within this cohort). Together with short/webbed neck and abnormalities of skin (lentigines / CAL spots) and growth delay these led to clinical suspicion of Noonan s. or disorder of the same pathway in some. Congenital heart defects (ASD, mitral valve insufficiency, though not cardiomyopathy) occurred in 4/7. Bleeding diathesis and lymphedema were reported only once. \r\n\r\nMAPK1 encodes the mitogen-activated protein kinase 1 (also known as ERK2) a serine/threonine kinase of the RAS-RAF-MEK-(MAPK/)ERK pathway. \r\n\r\nMAPK1 de novo variants were identified in all individuals following trio exome sequencing (and extensive previous genetic investigations which were non-diagnostic). \r\n\r\nThe distribution of variants, as well as in silico/vitro/vivo studies suggest a GoF effect (boosted signal through the MAPK cascade. MAPK signaling also upregulated in Noonan syndrome). \nSources: Literature",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2020-08-01T11:26:22.110360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAPK1 as ready",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2020-08-01T11:26:22.100414+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk1 has been classified as Green List (High Evidence).",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2020-08-01T11:26:11.330660+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAPK1 as Green List (high evidence)",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2020-08-01T11:26:11.319685+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk1 has been classified as Green List (High Evidence).",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2020-08-01T11:25:54.269791+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAPK1 was added\ngene: MAPK1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAPK1 were set to 32721402\nPhenotypes for gene: MAPK1 were set to Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin\nReview for gene: MAPK1 was set to GREEN\nAdded comment: Motta et al (2020 - PMID: 32721402) report on 7 unrelated individuals harboring de novo missense MAPK1 pathogenic variants.\r\n\r\nThe phenotype corresponded to a neurodevelopmental disorder and - as the authors comment - consistently included DD, ID , behavioral problems. Postnatal growth delay was observed in approximately half. Hypertelorism, ptosis, downslant of palpebral fissures, wide nasal bridge as low-set/posteriorly rotated ears were among the facial features observed (each in 3 or more subjects within this cohort). Together with short/webbed neck and abnormalities of skin (lentigines / CAL spots) and growth delay these led to clinical suspicion of Noonan s. or disorder of the same pathway in some. Congenital heart defects (ASD, mitral valve insufficiency, though not cardiomyopathy) occurred in 4/7. Bleeding diathesis and lymphedema were reported only once. \r\n\r\nMAPK1 encodes the mitogen-activated protein kinase 1 (also known as ERK2) a serine/threonine kinase of the RAS-RAF-MEK-(MAPK/)ERK pathway. \r\n\r\nMAPK1 de novo variants were identified in all individuals following trio exome sequencing (and extensive previous genetic investigations which were non-diagnostic). \r\n\r\nThe distribution of variants, as well as in silico/vitro/vivo studies suggest a GoF effect (boosted signal through the MAPK cascade. MAPK signaling also upregulated in Noonan syndrome). \nSources: Literature",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2020-08-01T11:23:36.357287+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAPK1 as ready",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2020-08-01T11:23:36.347119+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk1 has been classified as Green List (High Evidence).",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2020-08-01T11:23:26.431678+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAPK1 as Green List (high evidence)",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2020-08-01T11:23:26.423526+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk1 has been classified as Green List (High Evidence).",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2020-08-01T10:14:24.566294+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2803",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "gene: MAPK1 was added\ngene: MAPK1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAPK1 were set to 32721402\nPhenotypes for gene: MAPK1 were set to Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin\nPenetrance for gene: MAPK1 were set to unknown\nMode of pathogenicity for gene: MAPK1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: MAPK1 was set to GREEN\nAdded comment: Motta et al (2020 - PMID: 32721402) report on 7 unrelated individuals harboring de novo missense MAPK1 pathogenic variants.\r\n\r\nThe phenotype corresponded to a neurodevelopmental disorder and - as the authors comment - consistently included DD, ID , behavioral problems. Postnatal growth delay was observed in approximately half. Hypertelorism, ptosis, downslant of palpebral fissures, wide nasal bridge as low-set/posteriorly rotated ears were among the facial features observed (each in 3 or more subjects within this cohort). Together with short/webbed neck and abnormalities of skin (lentigines / CAL spots) and growth delay these led to clinical suspicion of Noonan s. or disorder of the same pathway in some. Congenital heart defects (ASD, mitral valve insufficiency, though not cardiomyopathy) occurred in 4/7. Bleeding diathesis and lymphedema were reported only once. \r\n\r\nMAPK1 encodes the mitogen-activated protein kinase 1 (also known as ERK2) a serine/threonine kinase of the RAS-RAF-MEK-(MAPK/)ERK pathway. \r\n\r\nMAPK1 de novo variants were identified in all individuals following trio exome sequencing (and extensive previous genetic investigations which were non-diagnostic). \r\n\r\nThe distribution of variants, as well as in silico/vitro/vivo studies suggest a GoF effect (boosted signal through the MAPK cascade. MAPK signaling also upregulated in Noonan syndrome). \r\n\r\nThe authors comment that screening of 267 additional individuals with suspected RASopathy (without mutations in previously implicated genes) did not reveal other MAPK1 variants.\r\n\r\nOverall this gene can be considered for inclusion in the ID panel with green rating. \nSources: Literature",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:25:09.504104+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-RNR1 as ready",
"entity_name": "MT-RNR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:25:09.493231+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-rnr1 has been classified as Green List (High Evidence).",
"entity_name": "MT-RNR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:25:06.053523+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag mtDNA tag was added to gene: MT-RNR1.",
"entity_name": "MT-RNR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:24:53.779752+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-RNR1 as Green List (high evidence)",
"entity_name": "MT-RNR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:24:53.770009+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-rnr1 has been classified as Green List (High Evidence).",
"entity_name": "MT-RNR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:24:45.840745+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-RNR1 was added\ngene: MT-RNR1 was added to Pharmacogenomics_Paediatric. Sources: Expert list\nMode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL\nPhenotypes for gene: MT-RNR1 were set to Gentamicin toxicity\nReview for gene: MT-RNR1 was set to GREEN\nAdded comment: m.1555A>G and m.1494C>T \nSources: Expert list",
"entity_name": "MT-RNR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:18:58.177889+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUDT15 as ready",
"entity_name": "NUDT15",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:18:58.167728+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nudt15 has been classified as Green List (High Evidence).",
"entity_name": "NUDT15",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:18:52.172523+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUDT15 as Green List (high evidence)",
"entity_name": "NUDT15",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:18:52.151438+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nudt15 has been classified as Green List (High Evidence).",
"entity_name": "NUDT15",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:18:42.435290+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUDT15 was added\ngene: NUDT15 was added to Pharmacogenomics_Paediatric. Sources: Expert list\nMode of inheritance for gene: NUDT15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NUDT15 were set to {Thiopurines, poor metabolism of, 2}\t616903; Azathioprine\nReview for gene: NUDT15 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "NUDT15",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:17:17.652886+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HLA-B as ready",
"entity_name": "HLA-B",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:17:17.644299+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hla-b has been classified as Green List (High Evidence).",
"entity_name": "HLA-B",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:17:09.581133+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HLA-B as Green List (high evidence)",
"entity_name": "HLA-B",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:17:09.570984+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hla-b has been classified as Green List (High Evidence).",
"entity_name": "HLA-B",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:16:59.800800+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HLA-B was added\ngene: HLA-B was added to Pharmacogenomics_Paediatric. Sources: Expert list\nMode of inheritance for gene: HLA-B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HLA-B were set to Carbamazepine; Oxcarbamazepine; Phenytoin\nReview for gene: HLA-B was set to GREEN\nAdded comment: HLA-B*1502 \nSources: Expert list",
"entity_name": "HLA-B",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:15:48.198939+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HLA-A as ready",
"entity_name": "HLA-A",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:15:48.188747+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hla-a has been classified as Green List (High Evidence).",
"entity_name": "HLA-A",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:15:42.782290+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HLA-A as Green List (high evidence)",
"entity_name": "HLA-A",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:15:42.773313+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hla-a has been classified as Green List (High Evidence).",
"entity_name": "HLA-A",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:15:32.971967+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HLA-A was added\ngene: HLA-A was added to Pharmacogenomics_Paediatric. Sources: Expert list\nMode of inheritance for gene: HLA-A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HLA-A were set to Carbamazepine\nReview for gene: HLA-A was set to GREEN\nAdded comment: HLA-A*3101 \nSources: Expert list",
"entity_name": "HLA-A",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:14:44.488508+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP3A5 as ready",
"entity_name": "CYP3A5",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:14:44.479927+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp3a5 has been classified as Green List (High Evidence).",
"entity_name": "CYP3A5",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:14:39.623323+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP3A5 as Green List (high evidence)",
"entity_name": "CYP3A5",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:14:39.604618+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp3a5 has been classified as Green List (High Evidence).",
"entity_name": "CYP3A5",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:14:03.014912+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP3A5 was added\ngene: CYP3A5 was added to Pharmacogenomics_Paediatric. Sources: Expert list\nMode of inheritance for gene: CYP3A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CYP3A5 were set to Tacrolimus\nReview for gene: CYP3A5 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "CYP3A5",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:13:09.841703+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP2C9 as ready",
"entity_name": "CYP2C9",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:13:09.831224+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp2c9 has been classified as Green List (High Evidence).",
"entity_name": "CYP2C9",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:13:01.622724+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP2C9 as Green List (high evidence)",
"entity_name": "CYP2C9",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:13:01.595605+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp2c9 has been classified as Green List (High Evidence).",
"entity_name": "CYP2C9",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:12:52.230041+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP2C9 was added\ngene: CYP2C9 was added to Pharmacogenomics_Paediatric. Sources: Expert list\nMode of inheritance for gene: CYP2C9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CYP2C9 were set to Warfarin sensitivity, MIM#\t122700; Phenytoin\nReview for gene: CYP2C9 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "CYP2C9",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:10:58.176910+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPMT as ready",
"entity_name": "TPMT",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:10:58.169028+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpmt has been classified as Green List (High Evidence).",
"entity_name": "TPMT",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:10:54.892566+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TPMT as Green List (high evidence)",
"entity_name": "TPMT",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:10:54.881689+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpmt has been classified as Green List (High Evidence).",
"entity_name": "TPMT",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:10:46.122736+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPMT was added\ngene: TPMT was added to Pharmacogenomics_Paediatric. Sources: Expert list\nMode of inheritance for gene: TPMT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPMT were set to {Thiopurines, poor metabolism of, 1}, MIM#\t610460; Azathioprine\nReview for gene: TPMT was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "TPMT",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:09:47.181458+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: G6PD as ready",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:09:47.171382+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: g6pd has been classified as Green List (High Evidence).",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:09:41.987997+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: G6PD as Green List (high evidence)",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:09:41.979900+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: g6pd has been classified as Green List (High Evidence).",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:09:33.285437+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: G6PD was added\ngene: G6PD was added to Pharmacogenomics_Paediatric. Sources: Expert list\nMode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: G6PD were set to Haemolytic anemia, G6PD deficient (favism), MIM#\t300908\nReview for gene: G6PD was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:08:38.968326+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RYR1 as ready",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:08:38.949564+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr1 has been classified as Green List (High Evidence).",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:08:34.859323+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RYR1 as Green List (high evidence)",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:08:34.850678+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr1 has been classified as Green List (High Evidence).",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:08:26.265157+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RYR1 was added\ngene: RYR1 was added to Pharmacogenomics_Paediatric. Sources: Expert list\nMode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1}\t145600\nReview for gene: RYR1 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-07-31T20:07:23.317183+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added Panel Pharmacogenomics_Paediatric\nSet panel types to: Australian Genomics",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-31T19:53:05.928629+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASPM as ready",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:53:05.920282+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aspm has been classified as Green List (High Evidence).",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:53:03.632409+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASPM were changed from to Microcephaly 5, primary, autosomal recessive, MIM#608716",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:52:39.277514+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASPM were set to ",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:52:06.030106+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASPM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:51:42.914415+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29243349, 19028728; Phenotypes: Microcephaly 5, primary, autosomal recessive, MIM#608716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:50:37.822516+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASPM as ready",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:50:37.812128+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aspm has been classified as Green List (High Evidence).",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:50:34.366989+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASPM were changed from to Microcephaly 5, primary, autosomal recessive, MIM#608716",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:50:02.614587+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASPM were set to ",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:49:35.623743+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASPM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:49:08.226906+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29243349, 19028728; Phenotypes: Microcephaly 5, primary, autosomal recessive, MIM#608716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:48:19.741317+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASPM as ready",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:48:19.730888+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aspm has been classified as Green List (High Evidence).",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:48:16.608973+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASPM were changed from to Microcephaly 5, primary, autosomal recessive, MIM#608716",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:47:55.520631+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASPM were set to ",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:47:32.529797+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASPM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:47:05.495596+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29243349, 19028728; Phenotypes: Microcephaly 5, primary, autosomal recessive, MIM#608716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:45:12.700062+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASPM as ready",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:45:12.669854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aspm has been classified as Green List (High Evidence).",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:45:07.065476+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASPM were changed from to Microcephaly 5, primary, autosomal recessive, MIM#608716",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:44:46.654647+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASPM were set to ",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T19:44:24.966460+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASPM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T15:12:38.284965+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3627",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:29243349; Phenotypes: Microcephaly 5, primary, autosomal recessive, 608716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2020-07-31T14:54:34.467317+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3627",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: AMBRA1 as ready",
"entity_name": "AMBRA1",
"entity_type": "gene"
},
{
"created": "2020-07-31T14:54:34.456954+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3627",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ambra1 has been classified as Green List (High Evidence).",
"entity_name": "AMBRA1",
"entity_type": "gene"
},
{
"created": "2020-07-31T14:54:10.039015+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3627",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AMBRA1 as Green List (high evidence)",
"entity_name": "AMBRA1",
"entity_type": "gene"
},
{
"created": "2020-07-31T14:54:10.030318+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3627",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ambra1 has been classified as Green List (High Evidence).",
"entity_name": "AMBRA1",
"entity_type": "gene"
},
{
"created": "2020-07-31T14:53:51.215804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3626",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AMBRA1 was added\ngene: AMBRA1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AMBRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AMBRA1 were set to 17589504; 32333458\nPhenotypes for gene: AMBRA1 were set to Neural tube defects\nReview for gene: AMBRA1 was set to GREEN\nAdded comment: 5 rare missense variants were identified in 6 cases from a neural tube defect cohort, and 4 (p.Thr80Met, p.Leu274Phe, p.Ser743Phe, and p.Met884Val) of them were functionally validated to affect autophagy regulation in vitro or zebrafish embryo development in vivo. There is also null mouse model with neural tube defects. \nSources: Literature",
"entity_name": "AMBRA1",
"entity_type": "gene"
},
{
"created": "2020-07-31T14:38:08.772810+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3625",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ERLEC1 as Green List (high evidence)",
"entity_name": "ERLEC1",
"entity_type": "gene"
},
{
"created": "2020-07-31T14:38:08.758904+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3625",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: erlec1 has been classified as Green List (High Evidence).",
"entity_name": "ERLEC1",
"entity_type": "gene"
},
{
"created": "2020-07-31T14:37:42.834311+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3624",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERLEC1 was added\ngene: ERLEC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ERLEC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ERLEC1 were set to 32442352\nPhenotypes for gene: ERLEC1 were set to Class III malocclusion\nReview for gene: ERLEC1 was set to GREEN\nAdded comment: A heterozygous missense variant was found to co-segregate with dentofacial deformity in a multi-generational Chinese pedigree (2 unaffected carriers & 11 affected carriers), and 3 additional missense variants were identified in 3 unrelated cases from a sporadic malocclusion cohort. Additional functional assays were conducted to demonstrate that the proper level of ERLEC1 expression is crucial for proper osteogenic differentiation. All identified missense variants were assessed using luciferase reporter assays, and altered activity. \nSources: Literature",
"entity_name": "ERLEC1",
"entity_type": "gene"
},
{
"created": "2020-07-31T13:59:27.038483+10:00",
"panel_name": "Pancreatitis",
"panel_id": 154,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Two studies identified a significant over-representation of loss of function mainly missense variants in chronic pancreatitis cases compared to controls in Japanese, European, and Chinese cohorts. There was also a supporting mouse model. \nSources: Literature; to: Two studies identified a significant over-representation of loss of function, mainly missense variants (tested in in vitro functional assays) in chronic pancreatitis cases compared to controls in Japanese, European, and Chinese cohorts. There was also a supporting mouse model. \r\nSources: Literature",
"entity_name": "TRPV6",
"entity_type": "gene"
}
]
}