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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=454",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=452",
"results": [
{
"created": "2024-05-20T10:59:21.249391+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CAD was added\ngene: CAD was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAD were set to 25678555; 29884839; 28007989\nPhenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50, MIM# 616457",
"entity_name": "CAD",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:21.224061+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Nucleotide metabolism disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-05-20T10:55:29.884655+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: DISPUTED classification by ClinGen ID and Autism GCEP on 06/01/2021 due to variants association with ASD having high frequencies in gnomAD - https://search.clinicalgenome.org/CCID:006198; to: DISPUTED classification by ClinGen ID and Autism GCEP on 06/01/2021. Variants in this gene associated with ASD having high frequencies in gnomAD - https://search.clinicalgenome.org/CCID:006198",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:54:24.874609+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SLC6A4: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006198; Phenotypes: autism spectrum disorder MONDO:0005258; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:53:04.821145+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Rajkumar Krishnaswamy",
"item_type": "entity",
"text": "changed review comment from: Rare genetic disorder representing a heterogeneous disease with high clinical variability. Pyramidal dysfunction, developmental, cognitive and behavioural abnormalities have been reported. ID/mental retardation ranging from mild, moderate to severe have been reported in several cases usually manifesting in the childhood or as adult onset.; to: Rare genetic disorder representing a heterogeneous disease with high clinical variability. Lethargy, feeding difficulties, seizures, pyramidal dysfunction, developmental, cognitive and behavioural abnormalities have been reported with various features exhibited at various stages of life e.g. neonates, infantile/childhood and adults.\r\nID/mental retardation ranging from mild, moderate to severe have been reported in several cases usually manifesting in childhood or adults.",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:41:02.010050+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SHROOM4: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006141; Phenotypes: X-linked complex neurodevelopmental disorder MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:38:47.288453+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28346496, 21037274; Phenotypes: Schinzel-Giedion syndrome MONDO:0010010, complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:38:41.458271+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Rajkumar Krishnaswamy",
"item_type": "entity",
"text": "reviewed gene: SLC25A15: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18978333, 25874378; Phenotypes: Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970, hyperammonemia, lethargy, somnolence, refusal to feed, vomiting, tachypnea with respiratory alkalosis, seizures, protein intolerance, developmental delay, spasticity, intellectual disability / mental retardation, dysarthria, learning disabilities, spasticity, liver dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:38:05.246193+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:37:37.481067+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "commented on gene: SETBP1: Classified DEFINITIVE for both conditions by ClinGen ID and Autism GCEP. \r\n\r\nSGS classified on 16/02/2021 - https://search.clinicalgenome.org/CCID:006117\r\nComplex neurodevelopmental disorders on 20/10/2020 - https://search.clinicalgenome.org/CCID:006116\r\n\r\nLoF is associated with complex neurodevelopmental disorder. There have been 20 LoF variants reported in individuals so far (nonsense, frameshift, large deletions)\r\n\r\nGoF is proposed to be the mechanism of disease for Schinzel-Giedion syndrome (SGS) due to an increase in SETBP1 protein production. Missense variants (especially affecting p.868-871) are known to be disease causing.",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:36:32.279886+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "commented on gene: SETBP1: Classified DEFINITIVE for both conditions by ClinGen ID and Autism GCEP. \r\n\r\nSGS classified on 16/02/2021 - https://search.clinicalgenome.org/CCID:006117\r\nComplex neurodevelopmental disorders on 20/10/2020 - https://search.clinicalgenome.org/CCID:006116\r\n\r\nLoF is associated with complex neurodevelopmental disorder. There have been 20 LoF variants reported in individuals so far (nonsense, frameshift, large deletions)\r\n\r\nGoF is proposed to be the mechanism of disease for Schinzel-Giedion syndrome (SGS) due to an increase in SETBP1 protein production. Missense variants (especially affecting p.868-871) are known to be disease causing.",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:35:52.275032+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28346496, 21037274; Phenotypes: Schinzel-Giedion syndrome MONDO:0010010, complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:13:24.173257+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Inherited vitamin B12 or cobalamin deficiency to Vitamin metabolism disorders\nHPO terms changed from Abnormality of vitamin B12 metabolism, HP:0004341 to Abnormality of vitamin metabolism, HP:0100508\nList of related panels changed from Abnormality of vitamin B12 metabolism; HP:0004341 to Abnormality of vitamin metabolism; HP:0100508",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-05-20T10:09:30.380641+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Disorders of branched chain amino acid metabolism to Aminoacidopathy",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-05-20T09:49:26.596474+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Iron metabolism disorders to Metal Metabolism Disorders\nHPO terms changed from Abnormality of iron homeostasis, HP:0011031 to Abnormality of iron homeostasis, HP:0011031;Abnormal blood transition element cation concentration, HP:0011030\nList of related panels changed from Abnormality of iron homeostasis; HP:0011031 to Abnormality of iron homeostasis; HP:0011031;Abnormal blood transition element cation concentration; HP:0011030",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-05-20T09:41:58.124358+10:00",
"panel_name": "Haem degradation and bilirubin metabolism defects",
"panel_id": 3077,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Porphyria to Haem degradation and bilirubin metabolism defects\nHPO terms changed from Porphyria, MONDO:0037939;Abnormal circulating porphyrin concentration, HP:0010472 to Porphyria, MONDO:0037939;Abnormal circulating porphyrin concentration, HP:0010472;Hyperbilirubinemia, HP:0002904\nList of related panels changed from Porphyria; MONDO:0037939;Abnormal circulating porphyrin concentration; HP:0010472 to Porphyria; MONDO:0037939;Abnormal circulating porphyrin concentration; HP:0010472;Hyperbilirubinemia; HP:0002904",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-05-20T09:38:42.135434+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PTCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005921; Phenotypes: non-syndromic X-linked intellectual disability MONDO:0019181; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PTCHD1",
"entity_type": "gene"
},
{
"created": "2024-05-20T08:47:56.424313+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301712; Phenotypes: focal dermal hypoplasia MONDO:0010592; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2024-05-20T08:37:36.751774+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: https://search.clinicalgenome.org/CCID:005834; Phenotypes: Pelizeaus-Merzbacher spectrum disorder MONDO:0010714; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2024-05-17T16:06:42.134871+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24884629; Phenotypes: ciliopathy MONDO:0005308; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2024-05-17T15:55:20.495186+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005696; Phenotypes: oculocerebrorenal syndrome MONDO:0010645; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2024-05-17T13:13:25.599397+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1789",
"user_name": "James The",
"item_type": "entity",
"text": "reviewed gene: RBBP8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:30561437, 34270086, 32379725; Phenotypes: Jawad syndrome, Pancreatic carcinoma, somatic, Seckel syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2024-05-17T11:39:46.577147+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005680; Phenotypes: Sotos syndrome MONDO:0019349; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2024-05-17T11:23:33.527270+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: NDP: Changed rating: GREEN",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2024-05-17T11:23:02.202126+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NDP: Rating: AMBER; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005574; Phenotypes: Norrie disease MONDO:0010691; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2024-05-17T11:10:21.224601+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005386; Phenotypes: X-linked Opitz G/BBB syndrome MONDO:0010222; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2024-05-17T10:56:55.192324+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MED23: Rating: GREEN; Mode of pathogenicity: None; Publications: 21868677, 25845469, 27311965, 27457812, 30847200, 31164858; Phenotypes: syndromic intellectual disability MONDO:0000508; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED23",
"entity_type": "gene"
},
{
"created": "2024-05-17T10:14:38.791420+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MED13L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28645799, 29511999; Phenotypes: syndromic intellectual disability MONDO:0000508; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2024-05-17T09:55:10.059994+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005361; Phenotypes: MED12-related intellectual disability syndrome MONDO:0100000; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2024-05-17T09:52:52.192551+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MBTPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005345; Phenotypes: IFAP syndrome 1, with or without BRESHECK syndrome MONDO:0100213; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:58:33.865477+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MAN1B1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: MAN1B1-congenital disorder of glycosylation MONDO:0018349; Mode of inheritance: None",
"entity_name": "MAN1B1",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:24:36.778393+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MAGT1: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005319; Phenotypes: X-linked intellectual disability MONDO:0100284; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:21:41.601348+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: LAMC3: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005265; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:19:42.133950+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYN1 were set to 14985377; 21441247; 28973667; 21441247; 34243774",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:19:09.760197+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYN1 were set to ",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:18:29.609651+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SYN1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:18:23.112644+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005260; Phenotypes: L1 syndrome MONDO:0017140; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:17:19.994509+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SURF1 as ready",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:17:19.980392+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: surf1 has been classified as Green List (High Evidence).",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:17:16.827436+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SURF1 were changed from to Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:16:29.144877+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SURF1 were set to ",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:14:07.555765+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SURF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:13:26.155585+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association with mitochondrial disease.; to: Well established gene-disease association with mitochondrial disease. Seizures are part of the phenotype.",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:12:50.063250+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUOX as ready",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:12:50.050804+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suox has been classified as Green List (High Evidence).",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:12:43.608747+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUOX were changed from to Sulfite oxidase deficiency, MIM# 272300",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:12:03.309736+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUOX were set to ",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:11:33.878791+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: KIRREL3: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005235; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIRREL3",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:11:17.470903+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUOX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:10:25.361803+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 5 unrelated families reported.; to: More than 5 unrelated families reported. Seizures are part of the phenotype.",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:09:29.700582+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUCLA2 as ready",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:09:29.689624+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sucla2 has been classified as Green List (High Evidence).",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:09:24.608796+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:07:50.139415+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUCLA2 were set to ",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:07:05.870118+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUCLA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:05:42.438903+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STRADA as ready",
"entity_name": "STRADA",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:05:42.410403+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: strada has been classified as Green List (High Evidence).",
"entity_name": "STRADA",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:05:16.281276+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STRADA were changed from to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087; Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611",
"entity_name": "STRADA",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:04:32.904887+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STRADA were set to ",
"entity_name": "STRADA",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:03:50.949932+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STRADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STRADA",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:02:48.090014+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAG1 as ready",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:02:48.072485+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stag1 has been classified as Green List (High Evidence).",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:02:44.509662+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STAG1 were changed from to Intellectual disability, autosomal dominant 47, MIM# 617635",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:01:57.217502+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STAG1 were set to ",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2024-05-16T16:00:15.322488+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:59:32.722791+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Twelve unrelated individuals reported in the original paper.; to: Twelve unrelated individuals reported in the original paper. Seizures are part of the phenotype.",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:59:17.712911+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STAG1: Changed phenotypes: Intellectual disability, autosomal dominant 47, MIM# 617635",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:58:49.617115+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPR as ready",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:58:49.604298+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spr has been classified as Green List (High Evidence).",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:58:41.881291+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPR were changed from to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:57:59.270449+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPR were set to ",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:57:11.833258+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:56:28.960922+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Complex movement disorder, dystonia predominant, but ataxia described in some individuals. Most individuals have had bi-allelic variants identified, uncertain whether there is an association with mono-allelic variants.\r\n\r\nIncluded due to phenotypic overlap.; to: Complex movement disorder, dystonia predominant, but ataxia described in some individuals. Most individuals have had bi-allelic variants identified, uncertain whether there is an association with mono-allelic variants.\r\n\r\nSeizures reported.",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:56:05.512151+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Complex movement disorder, dystonia predominant, but ataxia described in some individuals. Most individuals have had bi-allelic variants identified, uncertain whether there is an association with mono-allelic variants.; to: Complex movement disorder, dystonia predominant, but ataxia described in some individuals. Most individuals have had bi-allelic variants identified, uncertain whether there is an association with mono-allelic variants.\r\n\r\nIncluded due to phenotypic overlap.",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:55:28.565002+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNAP25 as ready",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:55:28.550648+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snap25 has been classified as Green List (High Evidence).",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:55:24.364689+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNAP25 were changed from to Neurodevelopmental disorder, MONDO:0700092, SNAP25-related",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:53:04.620488+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNAP25 were set to ",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:52:08.412981+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SNAP25 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:51:29.084579+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 5 unrelated individuals reported with a neurodevelopmental disorder.\r\n\r\nLimited evidence for this being congenital myasthenic syndrome,; to: More than 5 unrelated individuals reported with a neurodevelopmental disorder, including seizures.\r\n\r\nLimited evidence for this being congenital myasthenic syndrome,",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:50:47.892370+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A8 as ready",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:50:47.876733+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a8 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:50:36.949102+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A8 were changed from Cerebral creatine deficiency syndrome 1, MIM# 300352 to Cerebral creatine deficiency syndrome 1, MIM# 300352",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:50:02.540710+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A8 were changed from to Cerebral creatine deficiency syndrome 1, MIM# 300352",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:49:08.426213+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC6A8 were set to ",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:48:31.074912+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:47:48.673211+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association. \nSources: Expert list; to: Well established gene-disease association. Seizures are part of the phenotype.\r\nSources: Expert list",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:47:11.888962+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A19 as ready",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:47:11.871124+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a19 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:47:08.004021+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A19 were changed from to Hartnup disorder, MIM# 234500",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:46:21.225668+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:45:40.555413+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic variants associated with Hartnup disorder, which is characterised by impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa. Symptoms include transient manifestations of pellagra, cerebellar ataxia, and psychosis.\r\n\r\nHyperglycinuria/iminoglycinuria: The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria is a benign inborn error of amino acid transport, and is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG) \nSources: Expert list; to: Bi-allelic variants associated with Hartnup disorder, which is characterised by impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa. Symptoms include transient manifestations of pellagra, cerebellar ataxia, and psychosis. Seizures are part of the phenotype.\r\n\r\nHyperglycinuria/iminoglycinuria: The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria is a benign inborn error of amino acid transport, and is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG) \r\nSources: Expert list",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:45:19.463512+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC6A19: Changed phenotypes: Hartnup disorder, MIM# 234500; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:41:59.751795+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC35A2 as ready",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:41:59.738120+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:41:55.128583+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35A2 were changed from Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854; Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) to Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854; Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:41:18.143158+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35A2 were changed from to Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854; Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:40:26.784536+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC35A2 were set to ",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:39:36.739579+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC35A2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2024-05-16T15:39:04.043871+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC35A2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "SLC35A2",
"entity_type": "gene"
}
]
}