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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=394",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=392",
"results": [
{
"created": "2024-09-11T17:37:09.447758+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu2-2p has been classified as Green List (High Evidence).",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2024-09-11T17:35:24.145961+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU2-2P was added\ngene: RNU2-2P was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RNU2-2P was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RNU2-2P were set to https://www.medrxiv.org/content/10.1101/2024.09.03.24312863v1\nPhenotypes for gene: RNU2-2P were set to Neurodevelopmental disorder, MONDO:0700092, RNU2-2P-related\nReview for gene: RNU2-2P was set to GREEN\nAdded comment: 15 individuals reported with de novo, recurrent variants in this gene at nucleotide positions 4 and 35. The disorder is characterized by intellectual disability, neurodevelopmental delay, autistic behavior, microcephaly, hypotonia, epilepsy and hyperventilation. All cases display a severe and complex seizure phenotype. \nSources: Literature",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2024-09-11T17:35:21.345452+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU2-2P as Green List (high evidence)",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2024-09-11T17:35:21.330482+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu2-2p has been classified as Green List (High Evidence).",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2024-09-11T17:34:35.408651+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU2-2P as Green List (high evidence)",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2024-09-11T17:34:35.376571+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu2-2p has been classified as Green List (High Evidence).",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2024-09-11T17:33:37.815006+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU2-2P was added\ngene: RNU2-2P was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: RNU2-2P was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RNU2-2P were set to https://www.medrxiv.org/content/10.1101/2024.09.03.24312863v1\nPhenotypes for gene: RNU2-2P were set to Neurodevelopmental disorder, MONDO:0700092, RNU2-2P-related\nReview for gene: RNU2-2P was set to GREEN\nAdded comment: 15 individuals reported with de novo, recurrent variants in this gene at nucleotide positions 4 and 35. The disorder is characterized by intellectual disability, neurodevelopmental delay, autistic behavior, microcephaly, hypotonia, epilepsy and hyperventilation. All cases display a severe and complex seizure phenotype. \nSources: Literature",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2024-09-11T17:33:05.394329+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU2-2P as ready",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2024-09-11T17:33:05.357328+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu2-2p has been classified as Green List (High Evidence).",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2024-09-11T17:32:50.840227+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU2-2P as Green List (high evidence)",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2024-09-11T17:32:50.826035+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu2-2p has been classified as Green List (High Evidence).",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2024-09-11T17:31:50.194723+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU2-2P was added\ngene: RNU2-2P was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RNU2-2P was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RNU2-2P were set to https://www.medrxiv.org/content/10.1101/2024.09.03.24312863v1\nPhenotypes for gene: RNU2-2P were set to Neurodevelopmental disorder, MONDO:0700092, RNU2-2P-related\nReview for gene: RNU2-2P was set to GREEN\nAdded comment: 15 individuals reported with de novo, recurrent variants in this gene at nucleotide positions 4 and 35. The disorder is characterized by intellectual disability, neurodevelopmental delay, autistic behavior, microcephaly, hypotonia, epilepsy and hyperventilation. All cases display a severe and complex seizure phenotype. \nSources: Literature",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2024-09-11T15:17:21.193721+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.287",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062471 11062472 16670814 23714322 34064005 34165036 12506099 11062471 17004930; Phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked MIM310500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NYX",
"entity_type": "gene"
},
{
"created": "2024-09-11T14:52:58.863132+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.287",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: NPHS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32467597 30260545 24509478 10742096 23242530 24509478 12464671; Phenotypes: Nephrotic syndrome, type 2 MIM#600995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHS2",
"entity_type": "gene"
},
{
"created": "2024-09-11T14:41:26.152338+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2009",
"user_name": "Shakira Heerah",
"item_type": "entity",
"text": "reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31436889, 31707899, 20118933, 23224214, 29243230, 2578773, 27066567; Phenotypes: Ataxia-oculomotor apraxia 4, Microcephaly, seizures, and developmental delay, Charcot-Marie-Tooth disease, type 2B2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2024-09-11T14:39:09.302631+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.287",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 15317751 17557927 10712205; Phenotypes: Ichthyosis, congenital, autosomal recessive 6 MIM#612281; Mode of inheritance: None",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2024-09-11T14:29:26.480073+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.287",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: MPLKIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 15645389 16977596; Phenotypes: Trichothiodystrophy 4, nonphotosensitive MIM#234050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2024-09-11T14:19:18.288399+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.287",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8808595 11228641 22105986 33044030 31420886; Phenotypes: Congenital disorder of glycosylation, type IIa MIM#212066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2024-09-11T14:17:24.171767+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.287",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: CTSF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2024-09-11T14:09:07.376750+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.287",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: MCFD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12717434 17610559 18391077 15886209; Phenotypes: Factor V and factor VIII, combined deficiency of MIM#613625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2024-09-11T14:05:48.558079+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NFU1 were changed from Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711 to Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711; Spastic paraplegia 93, autosomal recessive, MIM# 620938",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2024-09-11T14:05:26.807479+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NFU1: Changed phenotypes: Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711, Spastic paraplegia 93, autosomal recessive, MIM# 620938",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2024-09-11T14:04:46.133911+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NFU1 were changed from Multiple mitochondrial dysfunctions syndrome 1 (MIM#605711) to Multiple mitochondrial dysfunctions syndrome 1 (MIM#605711); Spastic paraplegia 93, autosomal recessive, MIM# 620938",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2024-09-11T14:04:06.856630+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 93, autosomal recessive, MIM# 620938; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2024-09-11T13:52:20.915892+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.287",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9056564 9831343 11719191 15346351 18602879; Phenotypes: Exudative vitreoretinopathy 4 MIM#601813, Osteoporosis-pseudoglioma syndrome MIM#259770; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:45:19.334767+10:00",
"panel_name": "Amyloidosis",
"panel_id": 191,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Renal Amyloidosis to Amyloidosis\nHPO terms changed from Renal amyloidosis, HP:0001917 to Renal amyloidosis, HP:0001917; Amyloidosis, HP:0011034\nList of related panels changed from Renal amyloidosis; HP:0001917 to Renal amyloidosis; HP:0001917; Amyloidosis; HP:0011034\nPanel types changed to Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-11T12:22:36.654494+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SGMS1 as ready",
"entity_name": "SGMS1",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:22:36.633590+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sgms1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SGMS1",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:22:21.999656+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SGMS1 as Amber List (moderate evidence)",
"entity_name": "SGMS1",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:22:21.979247+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sgms1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SGMS1",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:20:55.439047+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SGMS1 as Amber List (moderate evidence)",
"entity_name": "SGMS1",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:20:55.422648+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sgms1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SGMS1",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:17:12.281896+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2008",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SGMS1 as ready",
"entity_name": "SGMS1",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:17:12.263789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2008",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sgms1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SGMS1",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:16:42.922346+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2008",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SGMS1 as Amber List (moderate evidence)",
"entity_name": "SGMS1",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:16:42.905330+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2008",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sgms1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SGMS1",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:14:46.261095+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6204",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: REPS2 as ready",
"entity_name": "REPS2",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:14:46.236371+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6204",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: reps2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "REPS2",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:14:30.805296+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6204",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: REPS2 as Amber List (moderate evidence)",
"entity_name": "REPS2",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:14:30.777528+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6204",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: reps2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "REPS2",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:08:33.849503+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.368",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: REPS2 as ready",
"entity_name": "REPS2",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:08:33.832329+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.368",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: reps2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "REPS2",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:08:19.255443+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.368",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: REPS2 as Amber List (moderate evidence)",
"entity_name": "REPS2",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:08:19.238982+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.368",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: reps2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "REPS2",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:07:57.038997+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6203",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TTL as ready",
"entity_name": "TTL",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:07:57.020680+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6203",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ttl has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTL",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:07:51.052845+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.368",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: REPS2 as Amber List (moderate evidence)",
"entity_name": "REPS2",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:07:51.030488+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.368",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: reps2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "REPS2",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:07:19.227434+10:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TTL as ready",
"entity_name": "TTL",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:07:19.212940+10:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ttl has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTL",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:06:46.195803+10:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TTL as Amber List (moderate evidence)",
"entity_name": "TTL",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:06:46.151135+10:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ttl has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTL",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:06:33.470725+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6203",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TTL as Amber List (moderate evidence)",
"entity_name": "TTL",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:06:33.456622+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6203",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ttl has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTL",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:06:07.010934+10:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TTL as Amber List (moderate evidence)",
"entity_name": "TTL",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:06:06.942773+10:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ttl has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTL",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:05:34.316353+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2007",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: REPS2 as ready",
"entity_name": "REPS2",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:05:34.283019+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2007",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: reps2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "REPS2",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:04:37.285083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2007",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TTL as ready",
"entity_name": "TTL",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:04:37.264996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2007",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ttl has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTL",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:04:34.495957+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2007",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: REPS2 as Amber List (moderate evidence)",
"entity_name": "REPS2",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:04:34.476739+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2007",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: reps2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "REPS2",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:04:00.323508+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2006",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TTL as Amber List (moderate evidence)",
"entity_name": "TTL",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:04:00.292019+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2006",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ttl has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTL",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:03:31.625363+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.930",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MRPL42 as ready",
"entity_name": "MRPL42",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:03:31.587923+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.930",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mrpl42 has been classified as Red List (Low Evidence).",
"entity_name": "MRPL42",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:01:31.781634+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.930",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MRPL42 as Red List (low evidence)",
"entity_name": "MRPL42",
"entity_type": "gene"
},
{
"created": "2024-09-11T12:01:31.765620+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.930",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mrpl42 has been classified as Red List (Low Evidence).",
"entity_name": "MRPL42",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:59:57.508996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2005",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MRPL42 as ready",
"entity_name": "MRPL42",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:59:57.482463+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2005",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mrpl42 has been classified as Red List (Low Evidence).",
"entity_name": "MRPL42",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:59:48.545969+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2005",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MRPL42 as Red List (low evidence)",
"entity_name": "MRPL42",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:59:48.513545+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2005",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mrpl42 has been classified as Red List (Low Evidence).",
"entity_name": "MRPL42",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:58:51.016787+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2004",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MED16 as ready",
"entity_name": "MED16",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:58:50.988410+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2004",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: med16 has been classified as Green List (High Evidence).",
"entity_name": "MED16",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:57:40.233908+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2004",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MED16 as Green List (high evidence)",
"entity_name": "MED16",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:57:40.220569+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2004",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: med16 has been classified as Green List (High Evidence).",
"entity_name": "MED16",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:53:09.817557+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6202",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GPN2 as ready",
"entity_name": "GPN2",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:53:09.799653+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6202",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gpn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GPN2",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:51:23.135476+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6202",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GPN2 as Amber List (moderate evidence)",
"entity_name": "GPN2",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:51:23.125112+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6202",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gpn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GPN2",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:50:49.177824+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2003",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GPN2 as ready",
"entity_name": "GPN2",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:50:49.153061+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2003",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gpn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GPN2",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:50:31.676925+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2003",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GPN2 as Amber List (moderate evidence)",
"entity_name": "GPN2",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:50:31.640247+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2003",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gpn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GPN2",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:48:51.040060+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6201",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FKBP4 as ready",
"entity_name": "FKBP4",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:48:51.023097+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6201",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fkbp4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FKBP4",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:48:46.228743+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6201",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FKBP4 as Amber List (moderate evidence)",
"entity_name": "FKBP4",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:48:46.215965+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6201",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fkbp4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FKBP4",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:48:08.364377+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.294",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FKBP4 as ready",
"entity_name": "FKBP4",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:48:08.337740+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.294",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fkbp4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FKBP4",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:48:04.882899+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.294",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FKBP4 as Amber List (moderate evidence)",
"entity_name": "FKBP4",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:48:04.860718+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.294",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fkbp4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FKBP4",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:47:16.705779+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2002",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FKBP4 as ready",
"entity_name": "FKBP4",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:47:16.688263+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2002",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fkbp4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FKBP4",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:47:01.840688+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2002",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FKBP4 as Amber List (moderate evidence)",
"entity_name": "FKBP4",
"entity_type": "gene"
},
{
"created": "2024-09-11T11:47:01.640816+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2002",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fkbp4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FKBP4",
"entity_type": "gene"
},
{
"created": "2024-09-11T10:57:04.703272+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6200",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EIF3I as ready",
"entity_name": "EIF3I",
"entity_type": "gene"
},
{
"created": "2024-09-11T10:57:04.669941+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6200",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif3i has been classified as Amber List (Moderate Evidence).",
"entity_name": "EIF3I",
"entity_type": "gene"
},
{
"created": "2024-09-11T10:55:37.222719+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6200",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EIF3I as Amber List (moderate evidence)",
"entity_name": "EIF3I",
"entity_type": "gene"
},
{
"created": "2024-09-11T10:55:37.197361+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6200",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif3i has been classified as Amber List (Moderate Evidence).",
"entity_name": "EIF3I",
"entity_type": "gene"
}
]
}