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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1690",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1688",
"results": [
{
"created": "2020-08-03T17:39:22.348036+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpdl has been classified as Green List (High Evidence).",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:38:40.182123+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPDL were changed from Progressive neurological disorder to Progressive neurological disorder; Leigh-like syndrome",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:38:22.977446+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HPDL as Green List (high evidence)",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:38:22.966798+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpdl has been classified as Green List (High Evidence).",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:37:41.885890+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPDL were changed from Progressive neurological disorder to Progressive neurological disorder; Leigh-like syndrome",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:36:52.296412+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPDL as ready",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:36:52.292313+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Leigh-like phenotype, HPDL has a mitochondrial localization signal and consequently localizes to mitochondria suggesting a putative role in mitochondrial metabolism.",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:36:52.252525+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpdl has been classified as Green List (High Evidence).",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:36:16.243729+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HPDL as Green List (high evidence)",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:36:16.233525+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpdl has been classified as Green List (High Evidence).",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:34:27.147173+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AHR as ready",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:34:27.138423+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahr has been classified as Amber List (Moderate Evidence).",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:34:15.138685+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AHR as Amber List (moderate evidence)",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:34:15.130121+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahr has been classified as Amber List (Moderate Evidence).",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:33:37.056540+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: M1AP as ready",
"entity_name": "M1AP",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:33:37.047810+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: m1ap has been classified as Green List (High Evidence).",
"entity_name": "M1AP",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:33:23.751520+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: M1AP as Green List (high evidence)",
"entity_name": "M1AP",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:33:23.741295+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: m1ap has been classified as Green List (High Evidence).",
"entity_name": "M1AP",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:32:21.708000+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MORC2 were changed from Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; Intellectual disability to Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; Intellectual disability",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:29:35.427064+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RELN: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:29:26.550136+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association with bi-allelic variants and lissencephaly.; to: Well established gene-disease association with bi-allelic variants and lissencephaly. Mono-allelic variants linked to epilepsy.",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:29:09.008367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RELN: Changed phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320, {Epilepsy, familial temporal lobe, 7} 616436",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:28:52.481929+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RELN as ready",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:28:52.469567+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: reln has been classified as Green List (High Evidence).",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:28:44.602242+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RELN were changed from Lissencephaly 2 (Norman-Roberts type), MIM# 257320; ankylosing spondylitis to Lissencephaly 2 (Norman-Roberts type), MIM# 257320; {Epilepsy, familial temporal lobe, 7}, MIM#\t616436; ankylosing spondylitis",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:27:36.660800+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RELN were changed from to Lissencephaly 2 (Norman-Roberts type), MIM# 257320; ankylosing spondylitis",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:27:02.754895+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RELN were set to ",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:26:45.415044+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RELN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:26:24.333795+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:25:00.883001+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCB as ready",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:25:00.873603+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancb has been classified as Green List (High Evidence).",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:24:58.810281+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCB were changed from to Fanconi anemia, complementation group B (MIM#300514)",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:24:33.880606+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCB were set to ",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:24:13.669068+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:22:11.578445+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CALCRL as ready",
"entity_name": "CALCRL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:22:11.569379+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: calcrl has been classified as Red List (Low Evidence).",
"entity_name": "CALCRL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:22:04.015715+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CALCRL was added\ngene: CALCRL was added to Hydrops fetalis. Sources: Literature\nMode of inheritance for gene: CALCRL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CALCRL were set to 30115739\nPhenotypes for gene: CALCRL were set to Lymphatic malformation 8 (MIM# 618773); hydrops fetalis\nReview for gene: CALCRL was set to RED\nAdded comment: Single family reported with several affected pregnancies. \nSources: Literature",
"entity_name": "CALCRL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:20:52.110658+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CALCRL as ready",
"entity_name": "CALCRL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:20:52.099673+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: calcrl has been classified as Red List (Low Evidence).",
"entity_name": "CALCRL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:19:26.953550+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CALCRL as Red List (low evidence)",
"entity_name": "CALCRL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:19:26.942787+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: calcrl has been classified as Red List (Low Evidence).",
"entity_name": "CALCRL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:17:36.176187+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSG2 as ready",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:17:36.164756+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsg2 has been classified as Green List (High Evidence).",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:17:33.320897+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSG2 were changed from to Arrhythmogenic right ventricular dysplasia 10, MIM# 610193",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:17:08.068711+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:16:39.599748+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 10, MIM# 610193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:14:09.335392+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3657",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "gene: CALCRL was added\ngene: CALCRL was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CALCRL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CALCRL were set to PMID: 30115739\nPhenotypes for gene: CALCRL were set to ?Lymphatic malformation 8 (MIM# 618773); hydrops fetalis\nReview for gene: CALCRL was set to RED\nAdded comment: Homozygous in-frame deletion (Val205del) in the CALCRL gene (Val205del) in a 22 week-old fetus with hydrops details due to lymphatic malformation. Consanguineous parents. \r\nHeterozygosity of the variant was also suggested to be associated with spontaneous miscarriage and subfertility. Consanguineous family with 8 total miscarriages from 3 carrier women, and 2 of these were confirmed to be due to hydrops fetalis. \r\nNote: possible association of a variant in ASAH1 gene that is associated with Farber lipogranulomatosis which can sometimes present with antenatal hydrops fetalis. (Homozygosity in one of the fetuses, fetus and heterozygosity in some of the family members). \r\nIn vitro biochemical assays indicated that the variant causes misfolding of the protein and reduced association with its chaperone, RAMP2, and reduced translocation to the plasma membrane. (PMID: 30115739; Mackie, DI. et al., 2018). \nSources: Literature",
"entity_name": "CALCRL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:11:04.383957+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. \nSources: Expert list; to: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Rated as LIMITED by ClinGen.\r\nSources: Expert list",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:09:48.075644+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKP2 as ready",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:09:48.063727+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkp2 has been classified as Green List (High Evidence).",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:09:45.611761+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKP2 were changed from to Arrhythmogenic right ventricular dysplasia 9, MIM# 609040",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:09:13.486040+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:08:35.297118+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 9, MIM# 609040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:07:24.585241+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two families reported, variants in UTRs in both. One of the variants is present in 10 individuals in gnomad and was also present in unaffected family members in the original family reported, so effectively one family only. Gene is associated with LDS.; to: Two families reported, variants in UTRs in both. One of the variants is present in 10 individuals in gnomad and was also present in unaffected family members in the original family reported, so effectively one family only. Rated as LIMITED by ClinGen. Gene is associated with LDS.",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:05:28.377216+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:00:09.254993+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RYR2 were set to 11159936; 25041964",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:59:43.520553+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: RYR2.",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:59:36.754172+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RYR2 as Red List (low evidence)",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:59:36.745843+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr2 has been classified as Red List (Low Evidence).",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:59:14.851504+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Exon 3 deletion specifically associated with ARVC, gene-disease association not well substantiated over time so caution required.; to: Gene-disease association assessed as REFUTED by ClinGen: 57 papers reviewed in the process. Some of the original variants were relatively often present in reference alleles from the gnomAD database, clear ARVD diagnosis was not provided, segregation information was not informative and/or CPVT was also present in the family. In a recent review it was also recognized that the observed phenotype in the original three publications that reported RYR2 variants in ARVD for the first time should be catecholamine-induced ventricular tachycardia rather than ARVD, and this gene is no longer considered as ARVD causing (29543670).",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:57:12.093063+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RYR2: Changed rating: RED; Changed publications: 11159936, 25041964, 29543670",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:55:22.612481+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMNA as ready",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:55:22.604120+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmna has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:53:10.822535+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMNA as Amber List (moderate evidence)",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:53:10.811835+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmna has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:52:44.485548+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMNA was added\ngene: LMNA was added to Arrhythmogenic Cardiomyopathy. Sources: Expert list\nMode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LMNA were set to 22199124; 25837155; 26620845\nPhenotypes for gene: LMNA were set to Cardiomyopathy, dilated, 1A, MIM#\t115200; Arrhythmogenic right ventricular cardiomyopathy\nReview for gene: LMNA was set to AMBER\nAdded comment: Association between LMNA and ARVC has been rated as LIMITED by ClinGen: small number of families reported where only some of the individuals with the variants had convincing ARVC phenotype. Rated Amber on this panel more due to phenotypic overlap with DCM and arrhythmias arising in this context. \nSources: Expert list",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:48:53.791554+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DES as ready",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:48:53.774407+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: des has been classified as Green List (High Evidence).",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:48:49.773774+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DES as Green List (high evidence)",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:48:49.761845+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: des has been classified as Green List (High Evidence).",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:46:20.688174+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DES was added\ngene: DES was added to Arrhythmogenic Cardiomyopathy. Sources: Expert list\nMode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DES were set to 19879535; 20423733; 24200904; 22395865; 29212896; 23168288; 20829228\nPhenotypes for gene: DES were set to Cardiomyopathy, dilated, 1I, MIM#\t604765; Myopathy, myofibrillar, 1\t, MIM#601419; Arrhythmogenic right ventricular cardiomyopathy\nReview for gene: DES was set to GREEN\nAdded comment: Assessed as MODERATE by ClinGen for ARVC, note phenotypes overlap DCM and skeletal myopathy. Multiple families reported, supportive in vitro studies. \nSources: Expert list",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:36:46.901169+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Arrhythmogenic Right Ventricular Cardiomyopathy to Arrhythmogenic Cardiomyopathy",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-08-03T16:32:00.238660+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.18",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21910217; Phenotypes: Fanconi anemia, complementation group B (MIM#300514); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:26:31.630406+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3657",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: RELN: Rating: AMBER; Mode of pathogenicity: None; Publications: 32001840; Phenotypes: ankylosing spondylitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:25:50.867917+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RYR2 as Amber List (moderate evidence)",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:25:50.859762+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:25:28.988783+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Exon 3 deletion specifically associated with ARVC.; to: Exon 3 deletion specifically associated with ARVC, gene-disease association not well substantiated over time so caution required.",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:24:24.843174+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RYR2: Changed rating: AMBER",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:22:36.745117+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3657",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: MORC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32693025; Phenotypes: Spinal muscular atrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:22:33.102509+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSRP3 as ready",
"entity_name": "CSRP3",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:22:33.090128+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csrp3 has been classified as Red List (Low Evidence).",
"entity_name": "CSRP3",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:22:29.254543+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSRP3 were changed from to Cardiomyopathy, dilated, 1M MIM#607482",
"entity_name": "CSRP3",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:22:21.892103+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3657",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: M1AP was added\ngene: M1AP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: M1AP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: M1AP were set to PMID: 32673564\nPhenotypes for gene: M1AP were set to non-obstructive azoospermia (NOA); severe spermatogenic failure; male infertility\nReview for gene: M1AP was set to GREEN\ngene: M1AP was marked as current diagnostic\nAdded comment: - One frameshift variant identified in 9 infertile men either in homozygous or compound heterozygous form\r\n- One missense variant segregated with infertility in five men from a consanguineous Turkish family \nSources: Literature",
"entity_name": "M1AP",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:22:02.472226+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSRP3 were set to ",
"entity_name": "CSRP3",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:21:39.511686+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSRP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CSRP3",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:21:14.395941+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSRP3 as Red List (low evidence)",
"entity_name": "CSRP3",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:21:14.385828+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csrp3 has been classified as Red List (Low Evidence).",
"entity_name": "CSRP3",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:20:46.228746+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: CSRP3.",
"entity_name": "CSRP3",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:19:37.925992+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSC2 as ready",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:19:37.920400+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: No concrete evidence for association with DCM.",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:19:37.871050+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsc2 has been classified as Red List (Low Evidence).",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:19:34.465569+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DSC2 as Red List (low evidence)",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:19:34.455532+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsc2 has been classified as Red List (Low Evidence).",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:18:34.640599+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3657",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: AHR was added\ngene: AHR was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AHR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AHR were set to 29726989; 31896775\nPhenotypes for gene: AHR were set to ?Retinitis pigmentosa 85 MIM#618345; foveal hypoplasia and infantile nystagmus\nReview for gene: AHR was set to AMBER\nAdded comment: - One reported homozygous splice variant in a consanguineous family & a mouse model (PMID: 29726989)\r\n\r\n- A homozygous nonsense variant in 1 consanguineous family with foveal hypoplasia and infantile nystagmus (PMID:31896775). \nSources: Literature",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:17:33.782536+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOLK as ready",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:17:33.768557+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dolk has been classified as Amber List (Moderate Evidence).",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:17:29.778545+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DOLK as Amber List (moderate evidence)",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:17:29.763373+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dolk has been classified as Amber List (Moderate Evidence).",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:16:29.140177+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRYAB as ready",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:16:29.129388+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cryab has been classified as Red List (Low Evidence).",
"entity_name": "CRYAB",
"entity_type": "gene"
}
]
}