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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=426",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=424",
"results": [
{
"created": "2024-07-14T13:44:59.458737+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fdxr has been classified as Green List (High Evidence).",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2024-07-14T13:44:24.197669+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FDXR: Added comment: Multiple reports of individuals with extra-ocular features, including ID and regression.; Changed rating: GREEN; Changed publications: 30250212, 29040572, 33348459, 37046037, 37481223; Changed phenotypes: Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887, Auditory neuropathy and optic atrophy, MIM# 617717",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2024-07-12T17:17:05.468334+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731, MONDO:0009745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2024-07-12T17:13:58.492699+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: CD40: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency with hyper-IgM, type 3, MIM# 606843; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD40",
"entity_type": "gene"
},
{
"created": "2024-07-12T17:12:49.906020+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: CD3D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 19, severe combined MIM# 615617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2024-07-12T17:09:16.092557+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 12, MIM# 615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2024-07-12T17:07:00.450417+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20177705, 15637713; Phenotypes: Bardet-Biedl syndrome 1, MIM# 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2024-07-12T17:02:54.096747+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2024-07-12T16:59:36.387422+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: ARL6: Rating: ; Mode of pathogenicity: None; Publications: 15258860, 32361989, 31888296, 25402481, 31736247, 19858128; Phenotypes: Bardet-Biedl syndrome 3, MIM# 600151; Mode of inheritance: None",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2024-07-12T16:54:44.961119+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: ANTXR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12973667, 14508707; Phenotypes: Hyaline fibromatosis syndrome, MIM# 228600, MONDO:0009229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANTXR2",
"entity_type": "gene"
},
{
"created": "2024-07-12T16:52:18.554196+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: ALOX12B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116617, 11773004; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALOX12B",
"entity_type": "gene"
},
{
"created": "2024-07-12T16:49:04.014925+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30100084, 30401461, 35664652; Phenotypes: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2024-07-12T16:46:44.817925+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alstrom syndrome, MIM# 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2024-07-12T16:35:10.856566+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 29255950; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM#231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2024-07-12T15:24:29.011601+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:30025539, 26475292; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20 (MIM#611126); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2024-07-12T14:01:32.465378+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: ABCA12: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31168818, 19664001, 31489029; Phenotypes: Ichthyosis, congenital, autosomal recessive 4A (MIM#601277), Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2024-07-11T14:35:14.484442+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SLC25A32 as ready",
"entity_name": "SLC25A32",
"entity_type": "gene"
},
{
"created": "2024-07-11T14:35:14.467462+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc25a32 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A32",
"entity_type": "gene"
},
{
"created": "2024-07-11T14:34:11.527596+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC25A32 as Green List (high evidence)",
"entity_name": "SLC25A32",
"entity_type": "gene"
},
{
"created": "2024-07-11T14:34:11.508708+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc25a32 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A32",
"entity_type": "gene"
},
{
"created": "2024-07-11T14:32:50.159595+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC25A32 was added\ngene: SLC25A32 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Literature\nMode of inheritance for gene: SLC25A32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A32 were set to 26933868; 35727412; 34764427; 28443623\nPhenotypes for gene: SLC25A32 were set to Exercise intolerance, riboflavin-responsive MONDO:0014795\nReview for gene: SLC25A32 was set to GREEN\nAdded comment: 5 cases with MADD from 4 unrelated families (4 homozygotes & 1 chet) and a supporting mouse model. At least 2 cases and the mouse model had exercise intolerance. \nSources: Literature",
"entity_name": "SLC25A32",
"entity_type": "gene"
},
{
"created": "2024-07-10T17:23:49.793778+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4-2 were changed from Neurodevelopmental disorder, MONDO:0700092, RNU4-2 related to Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2024-07-10T17:23:10.268953+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU4-2: Changed phenotypes: Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2024-07-10T17:22:48.172390+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4-2 were changed from Neurodevelopmental disorder, MONDO:0700092, RNU4-2 related to Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2024-07-10T17:22:20.702553+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU4-2: Changed phenotypes: Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2024-07-10T17:06:04.478162+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-07-09T16:44:23.636185+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: SLC1A3 was added\ngene: SLC1A3 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC1A3 were set to 27829685, 16116111, 29062094, 19139306, 29208948, 29066757, 32754645, 25497598\nPhenotypes for gene: SLC1A3 were set to episodic ataxia type 6 MONDO:0012982\nMode of pathogenicity for gene: SLC1A3 was set to Other\nReview for gene: SLC1A3 was set to GREEN\nAdded comment: Variants reported in 8 unrelated probands with reported errors in glutamate metabolism. Mechanism of disease varies depending on the mutation. The most severe variants (p.M128R, p.P290R, and p.T318A) appear to have gain of function mechanism. \r\n\r\nClassified as Definitive by ClinGen Aminoacidopathy GCEP on 09/10/2020\r\nhttps://search.clinicalgenome.org/CCID:006154 \nSources: ClinGen",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2024-07-09T16:30:26.076534+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: SLC1A2 was added\ngene: SLC1A2 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC1A2 were set to 23934111; 27476654; 28777935; 30937933\nPhenotypes for gene: SLC1A2 were set to developmental and epileptic encephalopathy, 41 MONDO:0014916\nReview for gene: SLC1A2 was set to GREEN\nAdded comment: Reported variants in 6 unrelated probands. The mechanism of disease is heterozygous dominant negative. \r\n\r\nClassified as Definitive by ClinGen Aminoacidopathy GCEP on 29/10/2020\r\nhttps://search.clinicalgenome.org/CCID:006153 \nSources: ClinGen",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2024-07-09T16:16:13.682603+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: SLC1A1 was added\ngene: SLC1A1 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: SLC1A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC1A1 were set to 21123949\nPhenotypes for gene: SLC1A1 were set to dicarboxylic aminoaciduria MONDO:0009110\nReview for gene: SLC1A1 was set to AMBER\nAdded comment: Reported in 2 unrelated probands along with a mouse knockout model recapitulating human phenotype.\r\n\r\nClassified as Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022\r\nhttps://search.clinicalgenome.org/CCID:006152 \nSources: ClinGen",
"entity_name": "SLC1A1",
"entity_type": "gene"
},
{
"created": "2024-07-09T15:59:46.719183+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: SHMT2 was added\ngene: SHMT2 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SHMT2 were set to 33015733; 35398349; 29323231\nPhenotypes for gene: SHMT2 were set to neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MONDO:0030866\nReview for gene: SHMT2 was set to GREEN\nAdded comment: Reported in 5 unrelated probands with abnormal biochemical function. \r\n\r\nClassified as Moderate by ClinGen Aminoacidopathy GCEP on 11/11/2022\r\nhttps://search.clinicalgenome.org/CCID:006136 \nSources: ClinGen",
"entity_name": "SHMT2",
"entity_type": "gene"
},
{
"created": "2024-07-09T15:48:58.110262+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1876",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: SELENBP1 was added\ngene: SELENBP1 was added to Mendeliome. Sources: ClinGen\nMode of inheritance for gene: SELENBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SELENBP1 were set to 29255262\nPhenotypes for gene: SELENBP1 were set to extraoral halitosis due to methanethiol oxidase deficiency MONDO:0029144\nReview for gene: SELENBP1 was set to GREEN\nAdded comment: 3 unrelated probands in one publication. All reported individuals had a “cabbage-like” breath odour due to the elevated levels of methanethiol and dimethylsulfide in their breath. \r\nKnockout mouse model recapitulating the human phenotype including the biochemical characteristics. \r\n\r\nClassified as Moderate by ClinGen Aminoacidopathy GCEP on 11/11/2022\r\nhttps://search.clinicalgenome.org/CCID:006103 \nSources: ClinGen",
"entity_name": "SELENBP1",
"entity_type": "gene"
},
{
"created": "2024-07-09T15:48:52.849952+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: SELENBP1 was added\ngene: SELENBP1 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: SELENBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SELENBP1 were set to 29255262\nPhenotypes for gene: SELENBP1 were set to extraoral halitosis due to methanethiol oxidase deficiency MONDO:0029144\nReview for gene: SELENBP1 was set to GREEN\nAdded comment: 3 unrelated probands in one publication. All reported individuals had a “cabbage-like” breath odour due to the elevated levels of methanethiol and dimethylsulfide in their breath. \r\nKnockout mouse model recapitulating the human phenotype including the biochemical characteristics. \r\n\r\nClassified as Moderate by ClinGen Aminoacidopathy GCEP on 11/11/2022\r\nhttps://search.clinicalgenome.org/CCID:006103 \nSources: ClinGen",
"entity_name": "SELENBP1",
"entity_type": "gene"
},
{
"created": "2024-07-09T15:25:01.429582+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: SARDH was added\ngene: SARDH was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: SARDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SARDH were set to 22825317\nPhenotypes for gene: SARDH were set to sarcosinemia MONDO:0010008\nReview for gene: SARDH was set to RED\nAdded comment: The clinical phenotypes vary and sarcosinemia is considered a benign condition. \r\n\r\nClassified as Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022\r\nhttps://search.clinicalgenome.org/CCID:006052 \nSources: ClinGen",
"entity_name": "SARDH",
"entity_type": "gene"
},
{
"created": "2024-07-09T15:09:26.456588+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: QDPR was added\ngene: QDPR was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: QDPR were set to 14114862; 3033643; 11153907; 9341885; 19099731\nPhenotypes for gene: QDPR were set to dihydropteridine reductase deficiency MONDO:0009862\nReview for gene: QDPR was set to GREEN\nAdded comment: Well established gene disease association. LoF is a mechanism of disease. \r\n\r\nClassified as Definitive by ClinGen Aminoacidopathy GCEP on 18/06/2018\r\nhttps://search.clinicalgenome.org/CCID:005939 \nSources: ClinGen",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2024-07-09T13:51:59.158255+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: PYCR1 was added\ngene: PYCR1 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PYCR1 were set to 19576563; 19648921\nPhenotypes for gene: PYCR1 were set to autosomal recessive cutis laxa type 2B MONDO:0013051\nReview for gene: PYCR1 was set to GREEN\nAdded comment: Established gene disease association with reported individuals having an inborn error of proline metabolism.\r\n\r\nClassified as Definitive by ClinGen Aminoacidopathy GCEP on 21/05/2020\r\nhttps://search.clinicalgenome.org/CCID:005936 \nSources: ClinGen",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2024-07-09T13:29:58.194132+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: PTS was added\ngene: PTS was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTS were set to 22729819; 21542064; 20059486\nPhenotypes for gene: PTS were set to BH4-deficient hyperphenylalaninemia A MONDO:0009863\nReview for gene: PTS was set to GREEN\nAdded comment: Well established gene-disease association. >5 unrelated individuals reported with a biochemical phenotype. LoF is the mechanism of disease. \r\n\r\nClassified as Definitive by ClinGen Aminoacidopathy GCEP on 22/12/2017\r\nhttps://search.clinicalgenome.org/CCID:005931 \nSources: ClinGen",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2024-07-09T13:12:39.153319+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: PSPH was added\ngene: PSPH was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSPH were set to 26589312, 25080166, 14673469; 27604308; 26888760; 25152457\nPhenotypes for gene: PSPH were set to neurometabolic disorder due to serine deficiency MONDO:0018162\nReview for gene: PSPH was set to GREEN\nAdded comment: Established gene disease assocation. Reported in >5 unrelated individuals with biochemical phenotypes. \r\nClassified as Moderate by ClinGen Aminoacidopathy GCEP on 12/12/2022\r\nhttps://search.clinicalgenome.org/CCID:005917 \nSources: ClinGen",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2024-07-09T12:55:51.632885+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: PSAT1 was added\ngene: PSAT1 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSAT1 were set to 26610677; 12633500; 27626380; 32077105\nPhenotypes for gene: PSAT1 were set to neurometabolic disorder due to serine deficiency MONDO:0018162\nReview for gene: PSAT1 was set to GREEN\nAdded comment: Well established gene disease association with reported individuals having errors in serine deficiency. Severity of the condition depends on the residual enzyme activity. \r\n\r\nClassified as Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020\r\nhttps://search.clinicalgenome.org/CCID:005912 \nSources: ClinGen",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2024-07-09T12:43:31.306465+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1876",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: PRODH2 was added\ngene: PRODH2 was added to Mendeliome. Sources: ClinGen\nMode of inheritance for gene: PRODH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRODH2 were set to 27139199\nPhenotypes for gene: PRODH2 were set to hydroxyprolinemia MONDO:0009374\nReview for gene: PRODH2 was set to RED\nAdded comment: PMID: 27139199\r\nVariants reported in 6 individuals however only 2 cases presented with intermittant biochemical phenotype however the cause remains unclear. The rest of the individuals were asymptomatic suggesting that hydroxyprolinemia is a benign condition. \r\n\r\nClassified as Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022\r\nhttps://search.clinicalgenome.org/CCID:005893 \nSources: ClinGen",
"entity_name": "PRODH2",
"entity_type": "gene"
},
{
"created": "2024-07-09T12:42:11.317614+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: PRODH2 was added\ngene: PRODH2 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: PRODH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRODH2 were set to 27139199\nPhenotypes for gene: PRODH2 were set to hydroxyprolinemia MONDO:0009374\nReview for gene: PRODH2 was set to RED\nAdded comment: PMID: 27139199\r\nVariants reported in 6 individuals however only 2 cases presented with intermittant biochemical phenotype however the cause remains unclear. The rest of the individuals were asymptomatic suggesting that hydroxyprolinemia is a benign condition. \r\n\r\nClassified as Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022\r\nhttps://search.clinicalgenome.org/CCID:005893 \nSources: ClinGen",
"entity_name": "PRODH2",
"entity_type": "gene"
},
{
"created": "2024-07-09T12:23:24.691284+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: PRODH was added\ngene: PRODH was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: PRODH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRODH were set to 12217952\nPhenotypes for gene: PRODH were set to hyperprolinemia type 1 MONDO:0009400\nReview for gene: PRODH was set to GREEN\nAdded comment: Well established gene disease association with reported individuals having an inborn error of proline metabolism.\r\nReported affected individuals have reported 2-10 times the normal plasma proline level. \r\n\r\nClassified as Moderate by ClinGen Aminoacidopathy GCEP on 27/04/2021\r\nhttps://search.clinicalgenome.org/CCID:005892 \nSources: ClinGen",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2024-07-09T12:04:17.917931+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: PHYKPL was added\ngene: PHYKPL was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: PHYKPL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PHYKPL were set to 23242558\nPhenotypes for gene: PHYKPL were set to phosphohydroxylysinuria MONDO:0014008\nReview for gene: PHYKPL was set to RED\nAdded comment: Chet individual reported with variants in this gene and a phenotype similar to EDS. This individual was not reported to any metabolic phenotype. No other reports published at this stage to support gene-disease association. \r\n\r\nClassified as Limitied by ClinGen Aminoacidopathy GCEP on 17/11/2023\r\nhttps://search.clinicalgenome.org/CCID:005792 \nSources: ClinGen",
"entity_name": "PHYKPL",
"entity_type": "gene"
},
{
"created": "2024-07-09T11:35:17.970136+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: PHGDH was added\ngene: PHGDH was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PHGDH were set to 37347880; 19235232; 24836451; 28440900; 22393170; 25913727\nPhenotypes for gene: PHGDH were set to neurometabolic disorder due to serine deficiency MONDO:0018162\nReview for gene: PHGDH was set to GREEN\nAdded comment: Established gene-disease association. >10 unrelated probands reported with an inborn error of serine deficiency. LoF is the mechanism of disease (PMID: 37347880).\r\n\r\nClassified as Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020\r\nhttps://search.clinicalgenome.org/CCID:005786 \nSources: ClinGen",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2024-07-09T11:23:03.733690+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: PCBD1 was added\ngene: PCBD1 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCBD1 were set to 19234759\nPhenotypes for gene: PCBD1 were set to pterin-4 alpha-carbinolamine dehydratase 1 deficiency MONDO:0009908\nReview for gene: PCBD1 was set to GREEN\nAdded comment: Well established gene disease association with affected individuals having a transient hyperphenylalaninemia phenotype. \r\n\r\nMechanism of disease appears to be a defect in BH4 regeneration leading to an excess build up of phenylalanine and primapterim levels in blood, urine and tissues (PMID: 19234759)\r\n\r\nClassified as Definitive by ClinGen Aminoacidopathy GCEP on 27/07/2021\r\nhttps://search.clinicalgenome.org/CCID:005739 \nSources: ClinGen",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2024-07-09T11:10:59.715123+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: PAH was added\ngene: PAH was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PAH were set to 1301187, 13138177\nPhenotypes for gene: PAH were set to phenylketonuria MONDO:0009861\nReview for gene: PAH was set to GREEN\nAdded comment: Well-established gene-disease association. Affected individuals reported to have an inborn error of phenylalanine metabolism. LoF is the established mechanism of disease (PMID:1301187).\r\n\r\nClassified as Definitive by ClinGen Aminoacidopathy GCEP on 24/04/2020\r\nhttps://search.clinicalgenome.org/CCID:005722 \nSources: ClinGen",
"entity_name": "PAH",
"entity_type": "gene"
},
{
"created": "2024-07-09T10:54:24.055384+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: OTC was added\ngene: OTC was added to Aminoacidopathy. Sources: Other\nMode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: OTC were set to 26059767\nPhenotypes for gene: OTC were set to ornithine carbamoyltransferase deficiency MONDO:0010703\nReview for gene: OTC was set to GREEN\nAdded comment: Well established gene-disease association where affected individuals have a deficiency in carbamoyltransferase which affects the urea cycle.\r\n\r\nClassified as Definitive by ClinGen Aminoacidopathy GCEP on 29/10/2019 \r\nhttps://search.clinicalgenome.org/CCID:005712 \nSources: Other",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2024-07-07T19:02:35.267771+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COPA as ready",
"entity_name": "COPA",
"entity_type": "gene"
},
{
"created": "2024-07-07T19:02:35.254497+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copa has been classified as Green List (High Evidence).",
"entity_name": "COPA",
"entity_type": "gene"
},
{
"created": "2024-07-07T19:02:31.107079+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COPA were changed from COPA syndrome - autoimmune disorder associated with childhood interstitial lung disease and pulmonary haemorrhage, arthritis, and kidney disease to Autoimmune interstitial lung, joint, and kidney disease, MIM# 616414",
"entity_name": "COPA",
"entity_type": "gene"
},
{
"created": "2024-07-07T09:31:09.667858+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAS2 as ready",
"entity_name": "GAS2",
"entity_type": "gene"
},
{
"created": "2024-07-07T09:31:09.649937+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gas2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GAS2",
"entity_type": "gene"
},
{
"created": "2024-07-07T09:30:31.628941+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GAS2 as Amber List (moderate evidence)",
"entity_name": "GAS2",
"entity_type": "gene"
},
{
"created": "2024-07-07T09:30:31.613912+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gas2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GAS2",
"entity_type": "gene"
},
{
"created": "2024-07-07T09:30:11.216512+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GAS2 was added\ngene: GAS2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GAS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GAS2 were set to 33964205\nPhenotypes for gene: GAS2 were set to Deafness, autosomal recessive 125, MIM#620877\nReview for gene: GAS2 was set to AMBER\nAdded comment: Single family reported with four affected brothers and a splicing variant. Supportive mouse model. \nSources: Literature",
"entity_name": "GAS2",
"entity_type": "gene"
},
{
"created": "2024-07-07T09:28:11.065837+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAS2 as ready",
"entity_name": "GAS2",
"entity_type": "gene"
},
{
"created": "2024-07-07T09:28:11.055153+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gas2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GAS2",
"entity_type": "gene"
},
{
"created": "2024-07-07T09:28:06.352915+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GAS2 as Amber List (moderate evidence)",
"entity_name": "GAS2",
"entity_type": "gene"
},
{
"created": "2024-07-07T09:28:06.334946+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gas2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GAS2",
"entity_type": "gene"
},
{
"created": "2024-07-07T09:27:32.075978+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GAS2 was added\ngene: GAS2 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: GAS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GAS2 were set to 33964205\nPhenotypes for gene: GAS2 were set to Deafness, autosomal recessive 125, MIM#620877\nReview for gene: GAS2 was set to AMBER\nAdded comment: Single family reported with four affected brothers and a splicing variant. Supportive mouse model. \nSources: Literature",
"entity_name": "GAS2",
"entity_type": "gene"
},
{
"created": "2024-07-07T09:21:01.008221+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF1A were changed from Neuropathy, hereditary sensory, type IIC, MIM# 614213; NESCAV syndrome, MIM# 614255; Spastic paraplegia 30, MIM# 610357 to Neuropathy, hereditary sensory, type IIC, MIM# 614213; NESCAV syndrome, MIM# 614255; Spastic paraplegia 30, autosomal dominant MIM# 610357; Spastic paraplegia 30, autosomal recessive 620607",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2024-07-07T09:20:29.732541+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF1A: Changed phenotypes: Neuropathy, hereditary sensory, type IIC, MIM# 614213, NESCAV syndrome, MIM# 614255, Spastic paraplegia 30, autosomal dominant MIM# 610357, Spastic paraplegia 30, autosomal recessive 620607",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2024-07-07T09:19:16.782010+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, MIM#\t610357 to Spastic paraplegia 30, autosomal dominant MIM# 610357; Spastic paraplegia 30, autosomal recessive 620607",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2024-07-07T09:18:50.692399+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF1A: Changed phenotypes: Spastic paraplegia 30, autosomal dominant MIM# 610357, Spastic paraplegia 30, autosomal recessive 620607",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2024-07-04T13:33:09.523228+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.56",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: COPA as Green List (high evidence)",
"entity_name": "COPA",
"entity_type": "gene"
},
{
"created": "2024-07-04T13:33:09.508666+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.56",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: copa has been classified as Green List (High Evidence).",
"entity_name": "COPA",
"entity_type": "gene"
},
{
"created": "2024-07-04T13:31:50.451533+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.55",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: COPA was added\ngene: COPA was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list\nMode of inheritance for gene: COPA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COPA were set to PMID: 27048656, 30385646, 30804679, 29977900\nPhenotypes for gene: COPA were set to COPA syndrome - autoimmune disorder associated with childhood interstitial lung disease and pulmonary haemorrhage, arthritis, and kidney disease\nReview for gene: COPA was set to GREEN\ngene: COPA was marked as current diagnostic\nAdded comment: Over 10 unrelated families reported.\r\nWell-established gene-disease association. \nSources: Expert list",
"entity_name": "COPA",
"entity_type": "gene"
},
{
"created": "2024-07-04T12:45:02.118706+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SREBF2 as ready",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2024-07-04T12:45:02.022821+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srebf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2024-07-04T12:44:56.159005+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SREBF2 as Amber List (moderate evidence)",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2024-07-04T12:44:56.149801+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srebf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2024-07-04T12:44:15.787268+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SREBF2 was added\ngene: SREBF2 was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: SREBF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SREBF2 were set to 38847193\nPhenotypes for gene: SREBF2 were set to Neurocutaneous syndrome, MONDO:0042983, SREBF2-related\nReview for gene: SREBF2 was set to AMBER\nAdded comment: Two individuals with de novo missense variants, presenting with neurological, cutaneous and skeletal features; supportive functional data. \nSources: Literature",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2024-07-04T12:43:51.352577+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SREBF2 as ready",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2024-07-04T12:43:51.317389+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srebf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2024-07-04T12:43:20.823988+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SREBF2 as Amber List (moderate evidence)",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2024-07-04T12:43:20.805139+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srebf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2024-07-04T10:00:42.217464+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SREBF2 was added\ngene: SREBF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SREBF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SREBF2 were set to 38847193\nPhenotypes for gene: SREBF2 were set to Neurocutaneous syndrome, MONDO:0042983, SREBF2-related\nReview for gene: SREBF2 was set to AMBER\nAdded comment: Two individuals with de novo missense variants, presenting with neurological, cutaneous and skeletal features; supportive functional data. \nSources: Literature",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:58:54.329584+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SREBF2 as ready",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:58:54.310771+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srebf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:53:12.100804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SREBF2 as Amber List (moderate evidence)",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:53:12.079643+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srebf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:52:54.019589+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SREBF2 was added\ngene: SREBF2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SREBF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SREBF2 were set to 38847193\nPhenotypes for gene: SREBF2 were set to Neurocutaneous syndrome, MONDO:0042983, SREBF2-related\nReview for gene: SREBF2 was set to AMBER\nAdded comment: Two individuals with de novo missense variants, presenting with neurological, cutaneous and skeletal features; supportive functional data. \nSources: Literature",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:44:06.404011+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: USP25 as Green List (high evidence)",
"entity_name": "USP25",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:44:06.381764+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp25 has been classified as Green List (High Evidence).",
"entity_name": "USP25",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:41:04.822983+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USP25 was added\ngene: USP25 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: USP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: USP25 were set to 38875478\nPhenotypes for gene: USP25 were set to Epilepsy, idiopathic generalized, MONDO:0005579, USP25-related\nReview for gene: USP25 was set to GREEN\nAdded comment: PMID: 38875478 5 heterozygous variants were identified in 8 individuals from 5 unrelated families all with clinical phenotypes associated with generalised epilepsy. Knock-out mouse model showed increased seizure susceptibility compared to the WT. Both loss of function and gain of function variants can be a mechanism of disease in individuals with USP25-related epilepsy. \nSources: Literature",
"entity_name": "USP25",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:40:21.751487+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP25 as ready",
"entity_name": "USP25",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:40:21.739915+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp25 has been classified as Green List (High Evidence).",
"entity_name": "USP25",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:39:28.551831+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: USP25 as Green List (high evidence)",
"entity_name": "USP25",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:39:28.541476+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp25 has been classified as Green List (High Evidence).",
"entity_name": "USP25",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:38:11.384283+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C10orf71 as ready",
"entity_name": "C10orf71",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:38:11.364024+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c10orf71 has been classified as Green List (High Evidence).",
"entity_name": "C10orf71",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:38:01.726967+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C10orf71 as Green List (high evidence)",
"entity_name": "C10orf71",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:38:01.687909+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c10orf71 has been classified as Green List (High Evidence).",
"entity_name": "C10orf71",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:37:37.713616+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C10orf71 as ready",
"entity_name": "C10orf71",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:37:37.702292+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c10orf71 has been classified as Green List (High Evidence).",
"entity_name": "C10orf71",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:37:33.990878+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C10orf71 as Green List (high evidence)",
"entity_name": "C10orf71",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:37:33.977146+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c10orf71 has been classified as Green List (High Evidence).",
"entity_name": "C10orf71",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:33:22.817325+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMC5 were changed from Developmental disorders to Neurodevelopmental disorder (MONDO#0700092), PSMC5-related",
"entity_name": "PSMC5",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:33:01.436412+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PSMC5 were set to 33057194",
"entity_name": "PSMC5",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:32:29.623800+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMC5 as Green List (high evidence)",
"entity_name": "PSMC5",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:32:29.611769+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmc5 has been classified as Green List (High Evidence).",
"entity_name": "PSMC5",
"entity_type": "gene"
}
]
}