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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=641",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=639",
"results": [
{
"created": "2023-02-02T14:42:31.745020+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5161",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ficd has been classified as Amber List (Moderate Evidence).",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:42:11.396836+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5161",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: FICD as Amber List (moderate evidence)",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:42:11.367282+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5161",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ficd has been classified as Amber List (Moderate Evidence).",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:41:50.726206+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTI1 as Green List (high evidence)",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:41:50.697169+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tti1 has been classified as Green List (High Evidence).",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:41:27.226280+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5160",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: FICD as ready",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:41:27.214095+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5160",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ficd has been classified as Red List (Low Evidence).",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:41:03.199293+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.35",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: FICD as ready",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:41:03.187244+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.35",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ficd has been classified as Amber List (Moderate Evidence).",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:40:58.760566+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5160",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: FICD was added\ngene: FICD was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FICD were set to 36704923\nPhenotypes for gene: FICD were set to Neurodevelopmental disorder, FICD-related (MONDO#0700092)\nReview for gene: FICD was set to AMBER\nAdded comment: PMID: 36704923: \r\n- five individuals (3 families) w/ infancy onset diabetes mellitus (5/5) and severe neurodevelopmental delay (4/5)\r\n- all homozygous for p.R371S\r\n- variant expression in E. coli showed loss of affinity, deregulates BiP-AMP and affects secretion \nSources: Literature",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:40:43.541087+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.633",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PCK2 were changed from PEPCK deficiency, mitochondrial - MIM#261650 to PEPCK deficiency, mitochondrial - MIM#261650; peripheral neuropathy (MONDO#0005244), PCK2-related",
"entity_name": "PCK2",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:40:38.771296+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OGDH as Green List (high evidence)",
"entity_name": "OGDH",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:40:38.745330+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ogdh has been classified as Green List (High Evidence).",
"entity_name": "OGDH",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:40:18.918655+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.632",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PCK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: peripheral neuropathy (MONDO#0005244), PCK2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PCK2",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:40:04.436369+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OGDH was added\ngene: OGDH was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: OGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OGDH were set to 36520152; 32383294\nPhenotypes for gene: OGDH were set to Oxoglutarate dehydrogenase deficiency, MIM# 203740\nReview for gene: OGDH was set to GREEN\nAdded comment: 6 individuals reported with bi-allelic variants in this gene and DD. \nSources: Literature",
"entity_name": "OGDH",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:39:30.210790+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.358",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "gene: CAMLG was added\ngene: CAMLG was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: CAMLG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAMLG were set to 35262690\nPhenotypes for gene: CAMLG were set to Congenital disorder of glycosylation type IIz, OMIM #: 620201\nPenetrance for gene: CAMLG were set to unknown\nReview for gene: CAMLG was set to RED\nAdded comment: PMID: 35262690 (2022)\r\nReport one patient with hom splice variant. No other reported patients. \r\nGDD, seizures, contractures, hypotonia and brain malformations. \nSources: Literature",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:38:33.273154+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.35",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: FICD as Amber List (moderate evidence)",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:38:33.263012+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.35",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ficd has been classified as Amber List (Moderate Evidence).",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:38:26.109335+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.34",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: FICD was added\ngene: FICD was added to Monogenic Diabetes. Sources: Literature\nMode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FICD were set to 36704923; 36136088\nPhenotypes for gene: FICD were set to Monogenic diabetes, MONDO:0015967, FICD-related\nReview for gene: FICD was set to AMBER\nAdded comment: PMID: 36704923: \r\n- five individuals (3 families) w/ infancy onset diabetes mellitus (5/5) and severe neurodevelopmental delay (4/5)\r\n- all homozygous for p.R371S\r\n- variant expression in E. coli showed loss of affinity, deregulates BiP-AMP and affects secretion\r\n\r\nPMID: 36136088:\r\n- 1/5 with diabetes mellitus, affect sibling has no diabetes \nSources: Literature",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:38:04.413519+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1830",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "gene: CAMLG was added\ngene: CAMLG was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CAMLG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAMLG were set to 35262690\nPhenotypes for gene: CAMLG were set to Congenital disorder of glycosylation type IIz, OMIM #: 620201\nPenetrance for gene: CAMLG were set to unknown\nReview for gene: CAMLG was set to RED\nAdded comment: PMID: 35262690 (2022)\r\nReport one patient with hom splice variant. No other reported patients. \r\nGDD, seizures, contractures, hypotonia and brain malformations. \nSources: Literature",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:35:36.803511+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OGDH as Green List (high evidence)",
"entity_name": "OGDH",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:35:36.793852+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ogdh has been classified as Green List (High Evidence).",
"entity_name": "OGDH",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:34:46.652007+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OGDH as Green List (high evidence)",
"entity_name": "OGDH",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:34:46.638119+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ogdh has been classified as Green List (High Evidence).",
"entity_name": "OGDH",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:34:23.438922+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.632",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "gene: CAMLG was added\ngene: CAMLG was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CAMLG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAMLG were set to PMID: 35262690\nPhenotypes for gene: CAMLG were set to Congenital disorder of glycosylation type IIz, 620201\nPenetrance for gene: CAMLG were set to unknown\nReview for gene: CAMLG was set to RED\nAdded comment: PMID: 35262690 (2022)\r\nReport one patient with hom splice variant. No other reported patients. \r\nGDD, seizures, contractures, hypotonia and brain malformations. \nSources: Literature",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:33:43.677459+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OGDH were set to 32383294",
"entity_name": "OGDH",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:33:17.414527+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OGDH as Green List (high evidence)",
"entity_name": "OGDH",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:33:17.403586+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ogdh has been classified as Green List (High Evidence).",
"entity_name": "OGDH",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:32:08.615775+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.3",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: TTI1: Rating: GREEN; Mode of pathogenicity: None; Publications: DOI:https://doi.org/10.1016/j.ajhg.2023.01.006; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, TTI1-related to; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:31:26.919152+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HTR2C as ready",
"entity_name": "HTR2C",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:31:26.905371+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: htr2c has been classified as Green List (High Evidence).",
"entity_name": "HTR2C",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:31:26.847226+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.630",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: TRU-TCA1-1 was added\ngene: TRU-TCA1-1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TRU-TCA1-1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRU-TCA1-1 were set to 26854926; 34956927\nPhenotypes for gene: TRU-TCA1-1 were set to Hyperthyroidism MONDO:0004425\nReview for gene: TRU-TCA1-1 was set to AMBER\ngene: TRU-TCA1-1 was marked as current diagnostic\nAdded comment: PMID 26854926: male 8 year old proband investigated for abdominal pain, fatigue, muscle weakness, and thyroid dysfunction (raised T4, normal T3, raised reverse T3) suggestive of impaired deiodinase activity in combination with low plasma selenium levels. Homozygosity mapping led to identification of a a single nucleotide change, C65G, in TRU-TCA1-1, a tRNA in the selenocysteine incorporation pathway. This mutation resulted in reduction in expression of stress-related selenoproteins. A methylribosylation defect at uridine 34 of mutant tRNA observed in patient cells was restored by cellular complementation with normal tRNA.\r\n\r\nPMID 34956927: a 10 year old originally investigated for Hashimoto's disease was found to be homozygous for the same C65G variant identified in the previous paper, inherited from the father in what was concluded to be paternal isodisomy. \nSources: Literature",
"entity_name": "TRU-TCA1-1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:31:11.927047+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HTR2C as Green List (high evidence)",
"entity_name": "HTR2C",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:31:11.901767+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: htr2c has been classified as Green List (High Evidence).",
"entity_name": "HTR2C",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:30:47.608343+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HTR2C was added\ngene: HTR2C was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HTR2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HTR2C were set to 36536256\nPhenotypes for gene: HTR2C were set to Obesity disorder, MONDO:0011122, HTR2C-related\nReview for gene: HTR2C was set to GREEN\nAdded comment: Exome sequencing of 2,548 people with severe obesity and 1,117 control individuals without obesity identified 13 rare variants in the gene encoding 5-HT2CR (HTR2C) in 19 unrelated people (3 males and 16 females). Eleven variants caused a loss of function in HEK293 cells. All people who carried variants had hyperphagia and some degree of maladaptive behavior. Obesity was severe, childhood-onset. Knock-in male mice harboring a human loss-of-function HTR2C variant developed obesity and reduced social exploratory behavior; female mice heterozygous for the same variant showed similar deficits with reduced severity. \nSources: Literature",
"entity_name": "HTR2C",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:28:58.318568+11:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.21",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: TRU-TCA1-1 was added\ngene: TRU-TCA1-1 was added to Hyperthyroidism. Sources: Literature\nMode of inheritance for gene: TRU-TCA1-1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRU-TCA1-1 were set to 26854926; 34956927\nPhenotypes for gene: TRU-TCA1-1 were set to Hyperthyroidism MONDO:0004425\nReview for gene: TRU-TCA1-1 was set to AMBER\ngene: TRU-TCA1-1 was marked as current diagnostic\nAdded comment: PMID 26854926: male 8 year old proband investigated for abdominal pain, fatigue, muscle weakness, and thyroid dysfunction (raised T4, normal T3, raised reverse T3) suggestive of impaired deiodinase activity in combination with low plasma selenium levels. Homozygosity mapping led to identification of a a single nucleotide change, C65G, in TRU-TCA1-1, a tRNA in the selenocysteine incorporation pathway. This mutation resulted in reduction in expression of stress-related selenoproteins. A methylribosylation defect at uridine 34 of mutant tRNA observed in patient cells was restored by cellular complementation with normal tRNA.\r\n\r\nPMID 34956927: a 10 year old originally investigated for Hashimoto's disease was found to be homozygous for the same C65G variant identified in the previous paper, inherited from the father in what was concluded to be paternal isodisomy. \nSources: Literature",
"entity_name": "TRU-TCA1-1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:28:56.873403+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.628",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: TTI1: Rating: GREEN; Mode of pathogenicity: None; Publications: DOI:https://doi.org/10.1016/j.ajhg.2023.01.006; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, TTI1-related to; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:28:44.281416+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HTR2C as ready",
"entity_name": "HTR2C",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:28:44.270331+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: htr2c has been classified as Green List (High Evidence).",
"entity_name": "HTR2C",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:28:28.561194+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HTR2C as Green List (high evidence)",
"entity_name": "HTR2C",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:28:28.554416+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: htr2c has been classified as Green List (High Evidence).",
"entity_name": "HTR2C",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:28:20.202131+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HTR2C was added\ngene: HTR2C was added to Severe early-onset obesity. Sources: Literature\nMode of inheritance for gene: HTR2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HTR2C were set to 36536256\nPhenotypes for gene: HTR2C were set to Obesity disorder, MONDO:0011122, HTR2C-related\nReview for gene: HTR2C was set to GREEN\nAdded comment: Exome sequencing of 2,548 people with severe obesity and 1,117 control individuals without obesity identified 13 rare variants in the gene encoding 5-HT2CR (HTR2C) in 19 unrelated people (3 males and 16 females). Eleven variants caused a loss of function in HEK293 cells. All people who carried variants had hyperphagia and some degree of maladaptive behavior. Obesity was severe, childhood-onset.\r\nKnock-in male mice harboring a human loss-of-function HTR2C variant developed obesity and reduced social exploratory behavior; female mice heterozygous for the same variant showed similar deficits with reduced severity. \nSources: Literature",
"entity_name": "HTR2C",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:28:05.570876+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.628",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: CCDC84 was added\ngene: CCDC84 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CCDC84 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC84 were set to 34009673\nPhenotypes for gene: CCDC84 were set to Mosaic variegated aneuploidy syndrome 4 (MIM#620153)\nReview for gene: CCDC84 was set to AMBER\nAdded comment: PMID: 34009673- patients with constitutional mosaic aneuploidy were found to have biallelic mutations in CENATAC(CCDC84). 2 adult siblings with mosaic aneuploidies, microcephaly, dev delay, and maculopathy. Both chet for a missense and a splice site deletion- but the paper days these both result in the creation of a novel splice site that leads to frameshifts and loss of the c-terminal 64 amino acids.\r\n\r\nGene is shown to be part of a spliceosome. CENATAC depletion or expression of disease mutants resulted in retention of introns in ~100 genes enriched for nucleocytoplasmic transport and cell cycle regulation, and caused chromosome segregation errors. \r\n\r\nFunctional analysis in CENATAC-depleted HeLa cells demonstrated chromosome congression defects and subsequent mitotic arrest, which could be fully rescued by wildtype but not mutant CENATAC. Expression of the MVA-associated mutants exacerbated the phenotype, suggesting that the mutant proteins dominantly repress the function of any residual wildtype protein. \nSources: Literature",
"entity_name": "CCDC84",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:26:20.335197+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.188",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: CCDC84 was added\ngene: CCDC84 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CCDC84 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC84 were set to 34009673\nPhenotypes for gene: CCDC84 were set to Mosaic variegated aneuploidy syndrome 4 (MIM#620153)\nReview for gene: CCDC84 was set to AMBER\nAdded comment: PMID: 34009673- patients with constitutional mosaic aneuploidy were found to have biallelic mutations in CENATAC(CCDC84). 2 adult siblings with mosaic aneuploidies, microcephaly, dev delay, and maculopathy. Both chet for a missense and a splice site deletion- but the paper days these both result in the creation of a novel splice site that leads to frameshifts and loss of the c-terminal 64 amino acids.\r\n\r\nGene is shown to be part of a spliceosome. CENATAC depletion or expression of disease mutants resulted in retention of introns in ~100 genes enriched for nucleocytoplasmic transport and cell cycle regulation, and caused chromosome segregation errors. \r\n\r\nFunctional analysis in CENATAC-depleted HeLa cells demonstrated chromosome congression defects and subsequent mitotic arrest, which could be fully rescued by wildtype but not mutant CENATAC. Expression of the MVA-associated mutants exacerbated the phenotype, suggesting that the mutant proteins dominantly repress the function of any residual wildtype protein. \nSources: Literature",
"entity_name": "CCDC84",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:25:29.148916+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.188",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: TTI1 was added\ngene: TTI1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: TTI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTI1 were set to DOI:https://doi.org/10.1016/j.ajhg.2023.01.006\nPhenotypes for gene: TTI1 were set to Neurodevelopmental disorder, MONDO:0700092, TTI1-related to\nReview for gene: TTI1 was set to GREEN\ngene: TTI1 was marked as current diagnostic\nAdded comment: - Eleven individuals from nine unrelated families with biallelic variants in TTI1 (10x missense, 2x canonical splice, 2x nonsense and 1x frameshift)\r\n- All present with ID, and most with microcephaly, short stature, and a movement disorder\r\n- Missense mutant constructs transfected into HEK293T cells demonstrated impairment of the TTT complex and of mTOR pathway activity which is improved by treatment with Rapamycin \nSources: Literature",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:24:57.393192+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5158",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: CCDC84 was added\ngene: CCDC84 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CCDC84 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC84 were set to 34009673\nPhenotypes for gene: CCDC84 were set to Mosaic variegated aneuploidy syndrome 4 (MIM#620153)\nReview for gene: CCDC84 was set to AMBER\nAdded comment: PMID: 34009673- patients with constitutional mosaic aneuploidy were found to have biallelic mutations in CENATAC(CCDC84). 2 adult siblings with mosaic aneuploidies, microcephaly, dev delay, and maculopathy. Both chet for a missense and a splice site deletion- but the paper days these both result in the creation of a novel splice site that leads to frameshifts and loss of the c-terminal 64 amino acids.\r\n\r\nGene is shown to be part of a spliceosome. CENATAC depletion or expression of disease mutants resulted in retention of introns in ~100 genes enriched for nucleocytoplasmic transport and cell cycle regulation, and caused chromosome segregation errors. \r\n\r\nFunctional analysis in CENATAC-depleted HeLa cells demonstrated chromosome congression defects and subsequent mitotic arrest, which could be fully rescued by wildtype but not mutant CENATAC. Expression of the MVA-associated mutants exacerbated the phenotype, suggesting that the mutant proteins dominantly repress the function of any residual wildtype protein. \nSources: Literature",
"entity_name": "CCDC84",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:23:32.452399+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THBS1 as ready",
"entity_name": "THBS1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:23:32.435219+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thbs1 has been classified as Green List (High Evidence).",
"entity_name": "THBS1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:23:23.191525+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5158",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: TTI1: Rating: GREEN; Mode of pathogenicity: None; Publications: DOI:https://doi.org/10.1016/j.ajhg.2023.01.006; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, TTI1-related to; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:23:04.342027+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THBS1 as Green List (high evidence)",
"entity_name": "THBS1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:23:04.334857+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thbs1 has been classified as Green List (High Evidence).",
"entity_name": "THBS1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:22:57.341777+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.852",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "reviewed gene: OGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36520152; Phenotypes: Oxoglutarate dehydrogenase deficiency, MIM# 203740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OGDH",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:22:55.241226+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.627",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "reviewed gene: OGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36520152; Phenotypes: Oxoglutarate dehydrogenase deficiency, MIM# 203740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OGDH",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:22:32.121338+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.627",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: NPTX1 as ready",
"entity_name": "NPTX1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:22:32.107775+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.627",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: nptx1 has been classified as Green List (High Evidence).",
"entity_name": "NPTX1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:22:19.379910+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.627",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: NPTX1 as Green List (high evidence)",
"entity_name": "NPTX1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:22:19.367643+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.627",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: nptx1 has been classified as Green List (High Evidence).",
"entity_name": "NPTX1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:21:33.291271+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THBS1 was added\ngene: THBS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: THBS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: THBS1 were set to 36453543\nPhenotypes for gene: THBS1 were set to Congenital glaucoma MONDO:0020366, THBS1-related\nReview for gene: THBS1 was set to GREEN\nAdded comment: Missense alleles altering p.Arg1034, a highly evolutionarily conserved amino acid, in 3 unrelated and ethnically diverse families affected by congenital glaucoma.\r\n\r\nThbs1R1034C-mutant mice had elevated intraocular pressure (IOP), reduced ocular fluid outflow, and retinal ganglion cell loss. Histology revealed an abundant, abnormal extracellular accumulation of THBS1 with abnormal morphology of juxtacanalicular trabecular meshwork (TM), an ocular tissue critical for aqueous fluid outflow. Functional characterization showed that the THBS1 missense alleles found in affected individuals destabilized the THBS1 C-terminus, causing protein misfolding and extracellular aggregation. Analysis using a range of amino acid substitutions at position R1034 showed that the extent of aggregation was correlated with the change in protein-folding free energy caused by variations in amino acid structure. \nSources: Literature",
"entity_name": "THBS1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:20:43.440382+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.625",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: NPTX1 was added\ngene: NPTX1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NPTX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NPTX1 were set to 34788392; 35288776; 35285082; 35560436\nPhenotypes for gene: NPTX1 were set to cerebellar ataxia MONDO#0000437, NPTX1-related\nReview for gene: NPTX1 was set to GREEN\ngene: NPTX1 was marked as current diagnostic\nAdded comment: PMID:34788392\r\n5 families with multigenerational segregations - late onset ataxia\r\n4 families with p.(Gly389Arg) + 1x p.(Glu327Gly)\r\nfunctional studies done\r\n\r\nNote: case report of a family member published elsewhere (PMID:35288776)\r\n\r\nPMID:35285082\r\n1x de novo in a male with late-onset, slowly progressive cerebellar ataxia, oculomotor apraxia, choreiform dyskinesias, and cerebellar cognitive affective syndrome\r\np.(Arg143Leu)\r\n\r\nPMID:35560436\r\n1x de novo in a female with early-onset ataxia and cerebellar atrophy since infancy\r\np.(Gln370Arg) \nSources: Literature",
"entity_name": "NPTX1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:18:41.887154+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THBS1 as ready",
"entity_name": "THBS1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:18:41.875210+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thbs1 has been classified as Green List (High Evidence).",
"entity_name": "THBS1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:18:34.410092+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THBS1 as Green List (high evidence)",
"entity_name": "THBS1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:18:34.399604+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thbs1 has been classified as Green List (High Evidence).",
"entity_name": "THBS1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:17:59.038331+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THBS1 was added\ngene: THBS1 was added to Glaucoma congenital. Sources: Literature\nMode of inheritance for gene: THBS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: THBS1 were set to 36453543\nPhenotypes for gene: THBS1 were set to Congenital glaucoma MONDO:0020366, THBS1-related\nReview for gene: THBS1 was set to GREEN\nAdded comment: Missense alleles altering p.Arg1034, a highly evolutionarily conserved amino acid, in 3 unrelated and ethnically diverse families affected by congenital glaucoma.\r\n\r\nThbs1R1034C-mutant mice had elevated intraocular pressure (IOP), reduced ocular fluid outflow, and retinal ganglion cell loss. Histology revealed an abundant, abnormal extracellular accumulation of THBS1 with abnormal morphology of juxtacanalicular trabecular meshwork (TM), an ocular tissue critical for aqueous fluid outflow. Functional characterization showed that the THBS1 missense alleles found in affected individuals destabilized the THBS1 C-terminus, causing protein misfolding and extracellular aggregation. Analysis using a range of amino acid substitutions at position R1034 showed that the extent of aggregation was correlated with the change in protein-folding free energy caused by variations in amino acid structure. \nSources: Literature",
"entity_name": "THBS1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:14:06.300654+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.624",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: GET4 as ready",
"entity_name": "GET4",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:14:06.288472+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.624",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: get4 has been classified as Red List (Low Evidence).",
"entity_name": "GET4",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:13:49.530602+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.624",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: GET4 was added\ngene: GET4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GET4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GET4 were set to 32395830\nPhenotypes for gene: GET4 were set to ?Congenital disorder of glycosylation,, type IIy MIM#620200\nReview for gene: GET4 was set to RED\nAdded comment: PMID: 32395830 \r\n- chet patient (missense x2), functionally shown to result in downregulation of three TRC proteins in patient cell lines. \r\n- patient phenotype included ID, DD, seizures, dysmorphism and delayed bone age. \r\n- functional studies on missense themselves not performed \nSources: Literature",
"entity_name": "GET4",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:12:41.381142+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.31",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: GET4 as ready",
"entity_name": "GET4",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:12:41.373605+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.31",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: get4 has been classified as Red List (Low Evidence).",
"entity_name": "GET4",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:12:03.000068+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.31",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: GET4 was added\ngene: GET4 was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: GET4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GET4 were set to 32395830\nPhenotypes for gene: GET4 were set to ?Congenital disorder of glycosylation,, type IIy MIM#620200\nReview for gene: GET4 was set to RED\nAdded comment: PMID: 32395830 \r\n- chet patient (missense x2), functionally shown to result in downregulation of three TRC proteins in patient cell lines.\r\n- patient phenotype included ID, DD, seizures, dysmorphism and delayed bone age.\r\n- functional studies on missense themselves not performed \nSources: Literature",
"entity_name": "GET4",
"entity_type": "gene"
},
{
"created": "2023-02-02T13:27:28.428155+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARCN1 as ready",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2023-02-02T13:27:28.421321+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arcn1 has been classified as Green List (High Evidence).",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2023-02-02T13:27:19.934518+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARCN1 as Green List (high evidence)",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2023-02-02T13:27:19.926158+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arcn1 has been classified as Green List (High Evidence).",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2023-02-02T13:26:52.136514+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARCN1 was added\ngene: ARCN1 was added to Pierre Robin Sequence. Sources: Expert Review\nMode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARCN1 were set to 35300924\nPhenotypes for gene: ARCN1 were set to Short stature-micrognathia syndrome, MIM# 617164\nReview for gene: ARCN1 was set to GREEN\nAdded comment: Significant PRS requiring surgical management is a feature. \nSources: Expert Review",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2023-02-02T13:25:29.433090+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35300924; Phenotypes: Short stature-micrognathia syndrome, MIM# 617164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2023-02-02T13:13:08.196452+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USP48 were changed from Nonsyndromic genetic deafness, MONDO:0019497 to Deafness, autosomal dominant 85, MIM# 620227",
"entity_name": "USP48",
"entity_type": "gene"
},
{
"created": "2023-02-02T13:12:37.703601+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: USP48: Changed phenotypes: Deafness, autosomal dominant 85, MIM# 620227",
"entity_name": "USP48",
"entity_type": "gene"
},
{
"created": "2023-02-02T13:12:15.454180+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USP48 were changed from non-syndromic hearing loss; nonsyndromic genetic deafness, MONDO:0019497 to Deafness, autosomal dominant 85, MIM# 620227",
"entity_name": "USP48",
"entity_type": "gene"
},
{
"created": "2023-02-02T13:11:49.454860+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: USP48: Changed rating: GREEN; Changed phenotypes: Deafness, autosomal dominant 85, MIM# 620227; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "USP48",
"entity_type": "gene"
},
{
"created": "2023-02-02T12:57:36.049552+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related to Spastic paraplegia 79A, autosomal dominant, MIM# 620221; Spastic paraplegia 79, autosomal recessive, 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2023-02-02T12:57:09.751260+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UCHL1: Changed phenotypes: Spastic paraplegia 79A, autosomal dominant, MIM# 620221, Spastic paraplegia 79, autosomal recessive, MIM#615491, Neurodegenerative disease, MONDO:0005559, UCHL1-related",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2023-02-02T12:56:43.738207+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related to Spastic paraplegia 79A, autosomal dominant, MIM# 620221; Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2023-02-02T12:32:12.251399+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UCHL1: Changed phenotypes: Spastic paraplegia 79A, autosomal dominant, MIM# 620221, Spastic paraplegia 79, autosomal recessive, MIM# 615491, MONDO:0014209, Neurodegenerative disease, MONDO:0005559, UCHL1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2023-02-02T12:30:00.774431+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAE1 were changed from Neurodevelopmental disorder, MONDO:0700092, NAE1-related to Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-02-02T12:29:28.348150+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NAE1: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-02-02T12:29:03.218933+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAE1 were changed from Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210 to Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-02-02T12:28:44.198141+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAE1 were changed from Neurodevelopmental disorder, MONDO:0700092, NAE1-related to Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-02-02T12:28:12.810786+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NAE1: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-02-02T12:27:52.712501+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAE1 were changed from Neurodevelopmental disorder, MONDO:0700092, NAE1-related to Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-02-02T12:27:26.288808+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NAE1: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-02-02T09:51:07.251293+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGR2 were changed from CF-like disorder to Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD), MIM#620233",
"entity_name": "AGR2",
"entity_type": "gene"
},
{
"created": "2023-02-02T09:50:30.299753+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AGR2: Changed phenotypes: Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD), MIM#620233",
"entity_name": "AGR2",
"entity_type": "gene"
},
{
"created": "2023-02-02T09:50:00.856915+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGR2 were changed from CF-like disorder to Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD), MIM#620233",
"entity_name": "AGR2",
"entity_type": "gene"
},
{
"created": "2023-02-02T09:49:14.470249+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AGR2: Changed phenotypes: Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD), MIM#620233",
"entity_name": "AGR2",
"entity_type": "gene"
},
{
"created": "2023-02-02T09:48:39.959388+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGR2 were changed from CF-like disorder to Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD), MIM#620233",
"entity_name": "AGR2",
"entity_type": "gene"
},
{
"created": "2023-02-02T09:48:13.827010+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AGR2: Changed phenotypes: Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD), MIM#620233",
"entity_name": "AGR2",
"entity_type": "gene"
},
{
"created": "2023-02-02T09:42:51.404873+11:00",
"panel_name": "Short QT syndrome",
"panel_id": 174,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC4A3 were changed from Short QT syndrome to Short QT syndrome 7, MIM#620231",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2023-02-02T09:42:05.383382+11:00",
"panel_name": "Short QT syndrome",
"panel_id": 174,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC4A3: Changed phenotypes: Short QT syndrome 7, MIM#620231",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2023-02-02T09:41:38.741199+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC4A3 were changed from Short QT syndrome to Short QT syndrome 7, MIM#620231",
"entity_name": "SLC4A3",
"entity_type": "gene"
}
]
}