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{
"count": 221303,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=674",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=672",
"results": [
{
"created": "2022-12-08T07:47:30.488585+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ITGA3 as Red List (low evidence)",
"entity_name": "ITGA3",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:47:30.476861+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itga3 has been classified as Red List (Low Evidence).",
"entity_name": "ITGA3",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:47:09.626915+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITGA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITGA3",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:43:18.520775+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGB2 as ready",
"entity_name": "ITGB2",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:43:18.507948+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itgb2 has been classified as Green List (High Evidence).",
"entity_name": "ITGB2",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:43:11.116678+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ITGB2.\nTag immunological tag was added to gene: ITGB2.",
"entity_name": "ITGB2",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:42:54.771325+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITGB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukocyte adhesion deficiency, MIM# 116920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITGB2",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:41:06.357279+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGB4 as ready",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:41:06.343242+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itgb4 has been classified as Red List (Low Evidence).",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:40:54.602068+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITGB4 were changed from Epidermolysis bullosa, junctional, with pyloric atresia to Epidermolysis bullosa of hands and feet, MIM# 131800; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:40:42.239457+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITGB4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:40:30.255851+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ITGB4 as Red List (low evidence)",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:40:30.242510+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itgb4 has been classified as Red List (Low Evidence).",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:40:18.502935+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITGB4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa of hands and feet, MIM# 131800, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650, Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:38:43.141097+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IYD as ready",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:38:43.126275+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iyd has been classified as Green List (High Evidence).",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:38:36.347602+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: IYD.\nTag endocrine tag was added to gene: IYD.",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2022-12-08T07:38:20.999921+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IYD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 4, MIM# 274800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:31:24.508374+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HK1 as ready",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:31:24.496472+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hk1 has been classified as Green List (High Evidence).",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:31:19.961129+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HK1 were changed from Hemolytic anemia due to hexokinase deficiency; Haemolytic anaemia due to hexokinase deficiency\t, MIM#235700 to Hyperinsulinism MONDO:0002177, HK1-related",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:30:56.311590+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HK1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:30:38.807052+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HK1 as Green List (high evidence)",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:30:38.795021+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hk1 has been classified as Green List (High Evidence).",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:30:14.874390+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinism MONDO:0002177, HK1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:24:11.030250+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS6KB1 as ready",
"entity_name": "RPS6KB1",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:24:11.017802+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps6kb1 has been classified as Green List (High Evidence).",
"entity_name": "RPS6KB1",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:24:05.392605+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPS6KB1 as Green List (high evidence)",
"entity_name": "RPS6KB1",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:24:05.378852+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps6kb1 has been classified as Green List (High Evidence).",
"entity_name": "RPS6KB1",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:23:20.387837+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS6KB1 was added\ngene: RPS6KB1 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature\nMode of inheritance for gene: RPS6KB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPS6KB1 were set to 34916228\nPhenotypes for gene: RPS6KB1 were set to Hypertrophic cardiomyopathy, MONDO:0005045, RPS6KB1-related\nReview for gene: RPS6KB1 was set to GREEN\nAdded comment: Jain et al. 2022 (PMID: 34916228) reported on two unrelated HCM families with the same heterozygous missense RPS6KB1 variant (p.G47W), and subsequently three further unrelated probands with HCM harbouring distinct heterozygous variants (p.Q49K, p.Y62H, respectively). Variants segregated with disease, were predicted pathogenic by silico analyses and were ultrarare or absent in population databases. Functional studies in the HL-1 (mouse cardiomyocytes) cells showed that the patient-specific RPS6KB1 mutant significantly increased cell size and activated rpS6 and ERK1/2 signalling cascades. The relationship between RPS6KB1 and cardiac hypertrophy has also been explored in feline and mice models (PMID: 15226426; 17976640) \nSources: Literature",
"entity_name": "RPS6KB1",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:22:43.535698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS6KB1 as ready",
"entity_name": "RPS6KB1",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:22:43.522176+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps6kb1 has been classified as Green List (High Evidence).",
"entity_name": "RPS6KB1",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:22:11.446275+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS6KB1 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045, RPS6KB1-related",
"entity_name": "RPS6KB1",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:21:14.941546+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPS6KB1 as Green List (high evidence)",
"entity_name": "RPS6KB1",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:21:14.926045+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps6kb1 has been classified as Green List (High Evidence).",
"entity_name": "RPS6KB1",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:16:27.845821+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNNC2 as ready",
"entity_name": "TNNC2",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:16:27.832942+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnnc2 has been classified as Green List (High Evidence).",
"entity_name": "TNNC2",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:16:15.424114+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNNC2 as Green List (high evidence)",
"entity_name": "TNNC2",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:16:15.412298+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnnc2 has been classified as Green List (High Evidence).",
"entity_name": "TNNC2",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:15:51.081239+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNNC2 was added\ngene: TNNC2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TNNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TNNC2 were set to 33755597\nPhenotypes for gene: TNNC2 were set to Congenital myopathy, MONDO:0019952, TNNC2-related\nReview for gene: TNNC2 was set to GREEN\nAdded comment: Two families reported: Family 1: 4 individuals, three generations; missense variant p.(Asp34Tyr) Family 2: de novo variant, missense p.(Met79Ile)\r\n\r\nPhysiological studies in myofibers isolated from patients’ biopsies revealed a markedly reduced force response of the sarcomeres to [Ca2+]. This pathomechanism was further confirmed in experiments in which contractile dysfunction was evoked by replacing TnC in myofibers from healthy control subjects with recombinant, mutant TnC. Conversely, the contractile dysfunction of myofibers from patients was repaired by replacing endogenous, mutant TnC with recombinant, wild-type TnC.\r\n\r\nBorderline Green: sufficient segregation in Fam 1 plus de novo status in Fam 2, plus functional data. \nSources: Literature",
"entity_name": "TNNC2",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:03:26.033110+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POGLUT1 as ready",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:03:26.020731+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poglut1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:03:17.665876+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POGLUT1 as Amber List (moderate evidence)",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:03:17.654554+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poglut1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2022-12-07T20:01:54.316144+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POGLUT1 was added\ngene: POGLUT1 was added to Muscular dystrophy_Paediatric. Sources: Literature\nMode of inheritance for gene: POGLUT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POGLUT1 were set to 33861953\nPhenotypes for gene: POGLUT1 were set to Muscular dystrophy, MONDO:0020121, POGLUT1-related\nReview for gene: POGLUT1 was set to AMBER\nAdded comment: in addition to adult-onset LGMD R21 (OMIM# 617232), biallelic variants in POGLUT1 gene have been reported in one patient with congenital muscular dystrophy and in two further patients with onset before 3 years of age. The presenting symptom were hypotonia with lower limb proximal weakness after gait acquisition, and further progression with mild weakness, wasting and contractures of the upper limbs, mild facial weakness, ptosis, and nasal voice. weakness was more severe and had faster progression compared to later onset patients. Muscle biopsies show evidence of α-dystroglycan hypoglycosylation. POGLUT1 activity is critical for the Notch signalling pathway, as JAG2. \nSources: Literature",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2022-12-07T19:58:29.805559+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASH1L as ready",
"entity_name": "ASH1L",
"entity_type": "gene"
},
{
"created": "2022-12-07T19:58:29.793944+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ash1l has been classified as Green List (High Evidence).",
"entity_name": "ASH1L",
"entity_type": "gene"
},
{
"created": "2022-12-07T19:58:19.889017+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASH1L as Green List (high evidence)",
"entity_name": "ASH1L",
"entity_type": "gene"
},
{
"created": "2022-12-07T19:58:19.877253+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ash1l has been classified as Green List (High Evidence).",
"entity_name": "ASH1L",
"entity_type": "gene"
},
{
"created": "2022-12-07T19:57:39.290148+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASH1L was added\ngene: ASH1L was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ASH1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ASH1L were set to 34373061; 25961944; 34782621; 32469098\nPhenotypes for gene: ASH1L were set to Mental retardation, autosomal dominant 52, MIM#617796\nReview for gene: ASH1L was set to GREEN\nAdded comment: Liu et al 2021 - twin sisters with mild intellectual disability and seizures. WES identified a de novo nonsense variant in exon 3.\r\nIn this paper they look at previously reported variants and others reported in patients presenting with a seizure phenotype -Table 2:\r\np.Glu2143* - autism spectrum disorder (seizure) - ref 7\r\np.Arg2391His - Intellectual disability (seizure) - ref 7\r\np.Arg2421* - intellectual disability/developmental delay (seizure) - ref 7\r\n(Ref 7 - Krumm et al, 2015, Nat Genet, 47:582-88).\r\n\r\nKrumm et al, 2015 - cohort of patients with myoclonic atonic seizures (MAE) - table 2 shows that 1 patient idenitifed in this cohort (de novo) and that two additional patients were identified in the Iossifov proband (family 13678 - nonsense - can't see anything re epilepsy phenotype) and de rubeis proband (no mention in this paper that they had epilepsy pheno - PMID 25363760) - all de novo (2 nonsense 1 fs)\r\n\r\nQin et al 2021 - The elevated PFC pyramidal neuronal excitability, increased E/I ratio, and excessive synchronised cortical network activity of Ash1L-deficient mice is linked to seizures, which recapitulates the phenotype of some autistic children carrying ASH1L variants.\r\n\r\nTang et al, 2020 - table 3 candidate variants - ASH1L - de novo variant p.Arg1342* - 7 year old male with seizure onset at 6 months refractory to treatment, also mod- severe ID, ASD and ADHD.\r\n\r\n3 definite families where de novo nonsense/fs variants have been reported in individuals with an epilepsy phenotype as well as ASD/ ID in the literature, patients reported in decipher with seizure phenotype and ASHIL variant (2 de novo nonsense, 1 de novo fs reported as pathogenic), and mouse studies support role for ASHIL in epeilepsy phenotype. \nSources: Literature",
"entity_name": "ASH1L",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:26:45.898630+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: JAK3.",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:26:06.599117+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: JAK3.",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:24:53.589245+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCTD7 as ready",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:24:53.576469+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kctd7 has been classified as Green List (High Evidence).",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:24:49.991686+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCTD7 were changed from to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726)",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:24:14.780784+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JAK3 as ready",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:24:14.761787+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jak3 has been classified as Green List (High Evidence).",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:24:06.178383+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: JAK3.\nTag immunological tag was added to gene: JAK3.",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:23:49.164119+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: JAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: SCID, autosomal recessive, T-negative/B-positive type MIM# 600802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:22:09.774633+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JAG1 as ready",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:22:09.762108+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jag1 has been classified as Red List (Low Evidence).",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:22:05.968247+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JAG1 were changed from Alagille syndrome to Alagille syndrome, MIM# 1 118450",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:21:53.550166+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JAG1 as Red List (low evidence)",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:21:53.538496+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jag1 has been classified as Red List (Low Evidence).",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:21:42.529297+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: JAG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome, MIM# 1 118450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:19:37.768196+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ1 as ready",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:19:37.751993+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj1 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:19:32.028020+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ1 were changed from Bartter syndrome to Bartter syndrome, type 2, 241200",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:19:12.256517+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 2, 241200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:17:17.422386+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNA1 as ready",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:17:17.409299+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcna1 has been classified as Red List (Low Evidence).",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:16:55.654977+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNA1 were changed from Episodic ataxia type 1 to Episodic ataxia/myokymia syndrome, MIM# 160120",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:16:43.844704+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNA1 as Red List (low evidence)",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:16:43.832270+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcna1 has been classified as Red List (Low Evidence).",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:16:31.884421+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Episodic ataxia/myokymia syndrome, MIM# 160120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:13:17.710686+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KARS as ready",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:13:17.696641+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kars has been classified as Green List (High Evidence).",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:13:08.750675+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KARS were changed from deafness with progressive leukodystrophy to Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Deafness, autosomal recessive 89, MIM# 613916; Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:12:53.070572+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: KARS.",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:12:43.168996+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with or without deafness (LEPID), MIM#619147, Deafness, autosomal recessive 89, MIM# 613916, Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:09:29.481866+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KANSL1 as ready",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:09:29.469687+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kansl1 has been classified as Red List (Low Evidence).",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:09:26.055983+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KANSL1 were changed from Koolen-De Vries syndrome to Koolen-De Vries syndrome, MIM# 610443",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:09:14.195913+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KANSL1 as Red List (low evidence)",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:09:14.182116+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kansl1 has been classified as Red List (Low Evidence).",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:09:02.657828+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KANSL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Koolen-De Vries syndrome, MIM# 610443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:08:01.095289+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ2 as ready",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:08:01.083625+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:07:44.470576+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ2 were changed from Andersen cardiodysrhythmic periodic paralysis to Andersen syndrome MIM#170390; Atrial fibrillation, familial, 9 MIM#613980; Short QT syndrome 3 MIM#609622",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:07:31.068116+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNJ2 as Amber List (moderate evidence)",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:07:31.056407+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:07:05.719208+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: KCNJ2.\nTag cardiac tag was added to gene: KCNJ2.",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:06:52.508817+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Andersen syndrome MIM#170390, Atrial fibrillation, familial, 9 MIM#613980, Short QT syndrome 3 MIM#609622; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:04:35.938468+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ4 as ready",
"entity_name": "KCNQ4",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:04:35.922682+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq4 has been classified as Red List (Low Evidence).",
"entity_name": "KCNQ4",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:04:32.111632+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ4 were changed from Deafness, autosomal dominant to Deafness, autosomal dominant 2A, MIM# 600101",
"entity_name": "KCNQ4",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:04:20.172692+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNQ4 as Red List (low evidence)",
"entity_name": "KCNQ4",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:04:20.160447+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq4 has been classified as Red List (Low Evidence).",
"entity_name": "KCNQ4",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:04:08.550718+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNQ4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 2A, MIM# 600101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ4",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:01:41.708605+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KBTBD13 as ready",
"entity_name": "KBTBD13",
"entity_type": "gene"
}
]
}