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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1453",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1451",
"results": [
{
"created": "2021-01-04T16:08:13.017867+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.157",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: RNU7-1 was added\ngene: RNU7-1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU7-1 were set to 33230297\nPhenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like\nReview for gene: RNU7-1 was set to GREEN\ngene: RNU7-1 was marked as current diagnostic\nAdded comment: Review originally submitted by Ming Wong\r\n- 16 affected individuals from 11 families\r\n- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of\r\nreplication-dependent histone (RDH) mRNAs \nSources: Literature",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:07:38.987649+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.993",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: RALGAPB as ready",
"entity_name": "RALGAPB",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:07:38.975732+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.993",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ralgapb has been classified as Amber List (Moderate Evidence).",
"entity_name": "RALGAPB",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:07:33.748525+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.993",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: RALGAPB as Amber List (moderate evidence)",
"entity_name": "RALGAPB",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:07:33.741026+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.993",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ralgapb has been classified as Amber List (Moderate Evidence).",
"entity_name": "RALGAPB",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:06:45.404905+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.128",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: RALGAPB as ready",
"entity_name": "RALGAPB",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:06:45.394115+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.128",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ralgapb has been classified as Green List (High Evidence).",
"entity_name": "RALGAPB",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:06:39.075929+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.128",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: RALGAPB as Green List (high evidence)",
"entity_name": "RALGAPB",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:06:39.068186+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.128",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ralgapb has been classified as Green List (High Evidence).",
"entity_name": "RALGAPB",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:05:53.838676+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.89",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: RPL3L was added\ngene: RPL3L was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: RPL3L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RPL3L were set to PMID: 32514796; 32870709\nPhenotypes for gene: RPL3L were set to Neonatal dilated cardiomyopathy\nReview for gene: RPL3L was set to GREEN\nAdded comment: PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype.\r\n\r\nPMID: 32870709 - 1 hom patient w/ neonatal DCM \nSources: Literature",
"entity_name": "RPL3L",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:05:40.582052+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5918",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: RALGAPB as ready",
"entity_name": "RALGAPB",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:05:40.567953+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5918",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ralgapb has been classified as Green List (High Evidence).",
"entity_name": "RALGAPB",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:05:11.151536+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5918",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: RALGAPB as Green List (high evidence)",
"entity_name": "RALGAPB",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:05:11.138107+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5918",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ralgapb has been classified as Green List (High Evidence).",
"entity_name": "RALGAPB",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:03:28.297873+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.992",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: RALGAPB was added\ngene: RALGAPB was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: RALGAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RALGAPB were set to PMID: 32853829\nPhenotypes for gene: RALGAPB were set to Neurodevelopmental disorders, autism\nReview for gene: RALGAPB was set to AMBER\nAdded comment: PMID: 32853829 - 2 patients with de novo missense variants, 1 patient with a de novo PTC with autism spectrum disorder from a large cohort.\r\nReviews previous publications and identifies 10 de novo variants (5 PTCs, 5 missense, epilepsy only present in 2/10. \nSources: Literature",
"entity_name": "RALGAPB",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:02:15.409033+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.127",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: RALGAPB was added\ngene: RALGAPB was added to Autism. Sources: Literature\nMode of inheritance for gene: RALGAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RALGAPB were set to PMID: 32853829\nPhenotypes for gene: RALGAPB were set to Neurodevelopmental disorders, autism\nReview for gene: RALGAPB was set to GREEN\nAdded comment: PMID: 32853829 - 2 patients with de novo missense variants, 1 patient with a de novo PTC with autism spectrum disorder from a large cohort.\r\nReviews previous publications and identifies 10 de novo variants (5 PTCs, 5 missense) in patients with ASD (7/10), epilepsy (2/10) and developmental delay (1/10).\r\nFunctional studies of patient cells show reduced mRNA expression (PTC). \nSources: Literature",
"entity_name": "RALGAPB",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:01:25.773588+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5917",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: RALGAPB was added\ngene: RALGAPB was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RALGAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RALGAPB were set to PMID: 32853829\nPhenotypes for gene: RALGAPB were set to Neurodevelopmental disorders, autism\nReview for gene: RALGAPB was set to GREEN\nAdded comment: PMID: 32853829 - 2 patients with de novo missense variants, 1 patient with a de novo PTC with autism spectrum disorder from a large cohort. \r\nReviews previous publications and identifies 10 de novo variants (5 PTCs, 5 missense) in patients with ASD (7/10), epilepsy (2/10) and developmental delay (1/10).\r\nFunctional studies of patient cells show reduced mRNA expression (PTC). \nSources: Literature",
"entity_name": "RALGAPB",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:59:35.660609+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.18",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: WNK1 as ready",
"entity_name": "WNK1",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:59:35.651225+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.18",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: wnk1 has been classified as Green List (High Evidence).",
"entity_name": "WNK1",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:58:34.342767+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5917",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: RPL3L as ready",
"entity_name": "RPL3L",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:58:34.331997+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5917",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rpl3l has been classified as Green List (High Evidence).",
"entity_name": "RPL3L",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:58:23.204786+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5917",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: RPL3L as Green List (high evidence)",
"entity_name": "RPL3L",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:58:23.194987+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5917",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rpl3l has been classified as Green List (High Evidence).",
"entity_name": "RPL3L",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:56:07.517718+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.517",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: FBRSL1 as Green List (high evidence)",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:56:07.507259+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.517",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: fbrsl1 has been classified as Green List (High Evidence).",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:55:15.268373+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3368",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: FBRSL1 as Green List (high evidence)",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:55:15.260153+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3368",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: fbrsl1 has been classified as Green List (High Evidence).",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:54:42.855390+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5916",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Very little evidence at this stage, just one consanguineous family with a some functional data.; to: Comment on list classification: Very little evidence at this stage, just one consanguineous family with some functional data.",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:54:11.805327+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5916",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: LSM11 as ready",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:54:11.795433+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5916",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: lsm11 has been classified as Red List (Low Evidence).",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:53:51.059782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5916",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: LSM11 as Red List (low evidence)",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:53:51.056011+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5916",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Very little evidence at this stage, just one consanguineous family with a some functional data.",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:53:51.029158+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5916",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: lsm11 has been classified as Red List (Low Evidence).",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:53:21.688956+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.43",
"user_name": "Sue White",
"item_type": "entity",
"text": "reviewed gene: FBRSL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:53:09.657084+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3367",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: DPH2 was added\ngene: DPH2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: DPH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DPH2 were set to 32576952; 27421267\nPhenotypes for gene: DPH2 were set to Diphthamide-deficiency syndrome\nReview for gene: DPH2 was set to AMBER\ngene: DPH2 was marked as current diagnostic\nAdded comment: One 19 month old reported (PMID:32576952) with biallelic (one missense, one nonsense) variants in DPH2, with phenotype similar to DPH1 deficiency (gross motor delay, not walking, fine motor and expressive language delays, macrocephaly)\r\n\r\nAnother family (sibs) was previously reported with biallelic nonsense variants (PMID:27421267) with a comparable phenotype, this family also has biallelic variants in KALRN and the authors thought those variants more likely causative. Patients had ID and microcephaly (in contrast to the 19 month old above).\r\n\r\nIn vitro functional assays support reduced diphthamide synthesis activity for the variants identified in PMID:32576952. \nSources: Literature",
"entity_name": "DPH2",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:51:09.303641+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.83",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: FBRSL1 as Amber List (moderate evidence)",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:51:09.293254+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.83",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:50:43.183145+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5915",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: DPH2 as ready",
"entity_name": "DPH2",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:50:43.172480+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5915",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: dph2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DPH2",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:49:56.922715+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5915",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: DPH2 as Amber List (moderate evidence)",
"entity_name": "DPH2",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:49:56.911586+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5915",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: dph2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DPH2",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:48:35.196460+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5914",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - 16 affected individuals from 11 families\r\n- - Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of\r\nreplication-dependent histone (RDH) mRNAs \nSources: Literature; to: - 16 affected individuals from 11 families\r\n- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of\r\nreplication-dependent histone (RDH) mRNAs \r\nSources: Literature",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:47:17.937595+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5914",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: RNU7-1 was added\ngene: RNU7-1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU7-1 were set to PMID: 33230297\nPhenotypes for gene: RNU7-1 were set to PMID: 33230297\nReview for gene: RNU7-1 was set to GREEN\ngene: RNU7-1 was marked as current diagnostic\nAdded comment: - 16 affected individuals from 11 families\r\n- - Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of\r\nreplication-dependent histone (RDH) mRNAs \nSources: Literature",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:45:53.273287+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.82",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: RPL3L was added\ngene: RPL3L was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: RPL3L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPL3L were set to PMID: 32514796; 32870709\nPhenotypes for gene: RPL3L were set to Neonatal dilated cardiomyopathy\nReview for gene: RPL3L was set to GREEN\nAdded comment: PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype.\r\n\r\nPMID: 32870709 - 1 hom patient w/ neonatal DCM \nSources: Literature",
"entity_name": "RPL3L",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:45:28.997498+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.18",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32790646; Phenotypes: Pseudohypoaldosteronism type IIC (MIM#614492), Hereditary sensory and autonomic type II neuropathy (MIM#201300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "WNK1",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:45:19.872605+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5914",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: RPL3L was added\ngene: RPL3L was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RPL3L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPL3L were set to PMID: 32514796; 32870709\nPhenotypes for gene: RPL3L were set to Neonatal dilated cardiomyopathy\nReview for gene: RPL3L was set to GREEN\nAdded comment: PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype.\r\n\r\nPMID: 32870709 - 1 hom patient w/ neonatal DCM \nSources: Literature",
"entity_name": "RPL3L",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:42:18.225652+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5914",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: LSM11 was added\ngene: LSM11 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LSM11 were set to PMID: 33230297\nPhenotypes for gene: LSM11 were set to type I interferonopathy Aicardi–Goutières syndrome\nReview for gene: LSM11 was set to AMBER\ngene: LSM11 was marked as current diagnostic\nAdded comment: - Two affected siblings from a consanguineous family carrying a homozygous variant in LSM11\r\n- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of \r\nreplication-dependent histone (RDH) mRNAs\r\n- Knockdown of LSM11 in THP-1 cells results in an increase in misprocessed RDH mRNA and\r\ninterferon signaling \nSources: Literature",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:40:29.546191+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3367",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: EIF2AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:35:38.241492+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5914",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: One family reported (PMID:32576952) with biallelic (one missense, one nonsense) variants in DPH2, with phenotype similar to DPH1 deficiency. \r\n\r\nAnother family was previously reported with biallelic nonsense variants (PMID:27421267) with a comparable phenotype, this family also has biallelic variants in KALRN and the authors thought those variants more likely causative.\r\n\r\nIn vitro functional assays support reduced diphthamide synthesis activity for the variants identified in PMID:32576952. \nSources: Literature; to: One 19 month old reported (PMID:32576952) with biallelic (one missense, one nonsense) variants in DPH2, with phenotype similar to DPH1 deficiency (gross motor delay, not walking, fine motor and expressive language delays, macrocephaly)\r\n\r\nAnother family (sibs) was previously reported with biallelic nonsense variants (PMID:27421267) with a comparable phenotype, this family also has biallelic variants in KALRN and the authors thought those variants more likely causative. Patients had ID and microcephaly (in contrast to the 19 month old above).\r\n\r\nIn vitro functional assays support reduced diphthamide synthesis activity for the variants identified in PMID:32576952. \r\nSources: Literature",
"entity_name": "DPH2",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:34:26.637556+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.82",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: FBRSL1 was added\ngene: FBRSL1 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FBRSL1 were set to PMID: 32424618\nPhenotypes for gene: FBRSL1 were set to Malformation and intellectual disability syndrome\nReview for gene: FBRSL1 was set to AMBER\nAdded comment: Three children with de novo PTCs that escape NMD, and an overlapping syndromic phenotype.\r\n2/3 had heart defects, cleft palate and hearing impairment.\r\nVariant pathogenicity supported by Xenopus oocyte functional studies \nSources: Literature",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:32:59.751322+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.43",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: FBRSL1 was added\ngene: FBRSL1 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FBRSL1 were set to PMID: 32424618\nPhenotypes for gene: FBRSL1 were set to Malformation and intellectual disability syndrome\nReview for gene: FBRSL1 was set to AMBER\nAdded comment: Three children with de novo PTCs that escape NMD, and an overlapping syndromic phenotype.\r\n2/3 had heart defects, cleft palate and hearing impairment.\r\nVariant pathogenicity supported by Xenopus oocyte functional studies \nSources: Literature",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:32:55.459582+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5914",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: DPH2 was added\ngene: DPH2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DPH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DPH2 were set to 32576952; 27421267\nPhenotypes for gene: DPH2 were set to Diphthamide-deficiency syndrome\nReview for gene: DPH2 was set to AMBER\ngene: DPH2 was marked as current diagnostic\nAdded comment: One family reported (PMID:32576952) with biallelic (one missense, one nonsense) variants in DPH2, with phenotype similar to DPH1 deficiency. \r\n\r\nAnother family was previously reported with biallelic nonsense variants (PMID:27421267) with a comparable phenotype, this family also has biallelic variants in KALRN and the authors thought those variants more likely causative.\r\n\r\nIn vitro functional assays support reduced diphthamide synthesis activity for the variants identified in PMID:32576952. \nSources: Literature",
"entity_name": "DPH2",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:30:52.351939+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3367",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: FBRSL1 was added\ngene: FBRSL1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FBRSL1 were set to PMID: 32424618\nPhenotypes for gene: FBRSL1 were set to Malformation and intellectual disability syndrome\nReview for gene: FBRSL1 was set to GREEN\nAdded comment: Three children with de novo PTCs that escape NMD, and an overlapping syndromic phenotype with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations. 2/3 had heart defects, cleft palate and hearing impairement.\r\nSupported by Xenopus oocyte functional studies \nSources: Literature",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:30:01.943144+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.516",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: FBRSL1 was added\ngene: FBRSL1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FBRSL1 were set to PMID: 32424618\nPhenotypes for gene: FBRSL1 were set to Malformation and intellectual disability syndrome\nReview for gene: FBRSL1 was set to GREEN\nAdded comment: Three children with de novo PTCs that escape NMD, and an overlapping syndromic phenotype with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations. 2/3 had heart defects, cleft palate and hearing impairment.\r\nSupported by Xenopus oocyte functional studies \nSources: Literature",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:29:06.778460+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5914",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: FBRSL1 was added\ngene: FBRSL1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FBRSL1 were set to PMID: 32424618\nPhenotypes for gene: FBRSL1 were set to Malformation and intellectual disability syndrome\nReview for gene: FBRSL1 was set to GREEN\nAdded comment: Three children with de novo PTCs that escape NMD, and an overlapping syndromic phenotype with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations. 2/3 had heart defects, cleft palate and hearing impairement.\r\nSupported by Xenopus oocyte functional studies \nSources: Literature",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:25:21.687194+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.163",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: CAMK2B as Green List (high evidence)",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:25:21.675856+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.163",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: camk2b has been classified as Green List (High Evidence).",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:24:39.314513+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.162",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: CAMK2B was added\ngene: CAMK2B was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CAMK2B were set to 32875707\nPhenotypes for gene: CAMK2B were set to microcephaly; intellectual disability; behavioural problems\nReview for gene: CAMK2B was set to GREEN\nAdded comment: A review of published patients with CAMK2B reported 3 patients with de novo variants and cerebellar atrophy. \nSources: Literature",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:19:28.564834+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.516",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: CAMK2B as Green List (high evidence)",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:19:28.554455+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.516",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: camk2b has been classified as Green List (High Evidence).",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T15:18:48.226953+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.515",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: CAMK2B was added\ngene: CAMK2B was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CAMK2B were set to 32875707\nPhenotypes for gene: CAMK2B were set to microcephaly; intellectual disability; behavioural problems\nReview for gene: CAMK2B was set to GREEN\nAdded comment: 5 individuals in review of literature with same de novo monoallelic variant reported with microcephaly \nSources: Literature",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:41:43.965523+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXP3 as ready",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:41:43.953962+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp3 has been classified as Green List (High Evidence).",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:41:31.892446+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP3 were changed from to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked , MIM#304790",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:40:53.526816+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXP3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:40:24.308966+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked , MIM#304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:39:10.892901+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPCAM as ready",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:39:10.879245+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epcam has been classified as Green List (High Evidence).",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:37:35.037045+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPCAM were changed from to Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:37:27.867345+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPCAM as ready",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:37:27.854283+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epcam has been classified as Green List (High Evidence).",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:37:17.310904+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPCAM were changed from to Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:37:01.751978+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPCAM were set to ",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:36:43.005507+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPCAM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:36:26.340266+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPCAM were set to ",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:36:23.228891+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 24142340; Phenotypes: Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:35:35.410874+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPCAM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:35:06.411917+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 24142340; Phenotypes: Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:32:13.066305+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DGAT1 as ready",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:32:13.054575+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dgat1 has been classified as Green List (High Evidence).",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:32:06.029158+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DGAT1 were changed from to Diarrhoea 7, protein-losing enteropathy type, MIM# 615863",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:31:47.305558+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DGAT1 were set to ",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:31:30.087858+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DGAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:31:06.283086+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33261563, 32786057, 31778854, 28373485, 29604290; Phenotypes: Diarrhoea 7, protein-losing enteropathy type, MIM# 615863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:29:59.195532+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DGAT1 as ready",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:29:59.185930+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dgat1 has been classified as Green List (High Evidence).",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:29:56.598493+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DGAT1 were changed from to Diarrhoea 7, protein-losing enteropathy type, MIM# 615863",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:29:27.298490+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DGAT1 were set to ",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:28:59.022527+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DGAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:27:24.898000+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33261563, 32786057, 31778854, 28373485, 29604290; Phenotypes: Diarrhoea 7, protein-losing enteropathy type, MIM# 615863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:23:02.842974+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFTR as ready",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:23:02.832392+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cftr has been classified as Green List (High Evidence).",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:21:54.692349+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFTR were changed from to Cystic fibrosis, MIM# 219700",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:19:36.913141+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:19:07.355783+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis, MIM# 219700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:18:09.364731+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOB as ready",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:18:09.356719+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.18",
"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": "2021-01-04T14:18:04.396552+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APOB were changed from to Hypobetalipoproteinemia, MIM# 615558",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:16:38.073360+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2021-01-04T14:16:09.245725+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: APOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypobetalipoproteinemia, MIM# 615558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APOB",
"entity_type": "gene"
}
]
}