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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1579",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1577",
"results": [
{
"created": "2020-09-22T23:34:07.787074+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4542",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: TCF12: Rating: AMBER; Mode of pathogenicity: None; Publications: 32620954; Phenotypes: Kallmann syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-22T16:19:25.476911+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GCH1 as ready",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2020-09-22T16:19:25.466104+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gch1 has been classified as Green List (High Evidence).",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2020-09-22T16:19:23.156631+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GCH1 were changed from to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2020-09-22T16:18:58.494757+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GCH1 were set to ",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2020-09-22T16:18:09.350707+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GCH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2020-09-22T16:17:42.930342+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32170445, 32278297, 32746945, 30314816; Phenotypes: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2020-09-22T16:10:26.855171+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJC5 as ready",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2020-09-22T16:10:26.842840+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajc5 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2020-09-22T16:10:24.155118+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2020-09-22T16:10:02.361750+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAJC5 were set to ",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2020-09-22T16:09:39.702003+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAJC5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2020-09-22T16:09:12.017192+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22978711, 21820099, 22235333; Phenotypes: Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2020-09-22T15:47:19.388243+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 3 MIM#204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2020-09-22T15:34:44.445478+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VAMP1 as Amber List (moderate evidence)",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-22T15:34:44.436876+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vamp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-22T15:34:38.132995+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: VAMP1.",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-22T15:34:29.989117+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VAMP1: Added comment: Single variant reported in four Newfoundland families, founder effect.; Changed rating: AMBER; Changed phenotypes: Spastic ataxia 1, autosomal dominant, MIM# 108600",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:34:55.444985+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RP1L1 as ready",
"entity_name": "RP1L1",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:34:55.434446+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rp1l1 has been classified as Green List (High Evidence).",
"entity_name": "RP1L1",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:34:49.155051+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RP1L1 were changed from to Occult macular dystrophy (MIM#613587) AD; Retinitis pigmentosa 88 (MIM#618826) AR",
"entity_name": "RP1L1",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:34:32.450019+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RP1L1 were set to ",
"entity_name": "RP1L1",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:34:14.777954+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RP1L1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "RP1L1",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:33:06.724306+10:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP11B2 as ready",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:33:06.706529+10:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp11b2 has been classified as Green List (High Evidence).",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:33:03.393314+10:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYP11B2 were changed from to Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600)",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:32:39.790126+10:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYP11B2 were set to ",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:32:12.998447+10:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYP11B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:31:34.229603+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP11B2 as ready",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:31:34.219764+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp11b2 has been classified as Green List (High Evidence).",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:31:27.578891+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYP11B2 were changed from to Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600).",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:31:11.323023+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYP11B2 were set to ",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:30:41.531349+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYP11B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:29:50.909810+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPS5 as ready",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:29:50.895815+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hps5 has been classified as Green List (High Evidence).",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:29:48.407612+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPS5 were changed from to Hermansky-Pudlak syndrome 5 (MIM#614074)",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:29:27.610302+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPS5 were set to ",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:28:52.922269+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HPS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:28:20.277843+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28296950, 32725903; Phenotypes: Hermansky-Pudlak syndrome 5 (MIM#614074); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:27:22.648024+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPS5 as ready",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:27:22.638896+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hps5 has been classified as Green List (High Evidence).",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:27:16.128324+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPS5 were changed from to Hermansky-Pudlak syndrome 5 (MIM#614074)",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:26:51.027109+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPS5 were set to ",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:26:28.403212+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HPS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:26:11.173694+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28296950, 32725903; Phenotypes: Hermansky-Pudlak syndrome 5 (MIM#614074); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:24:49.437751+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPS5 as ready",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:24:49.425810+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hps5 has been classified as Green List (High Evidence).",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:24:46.559470+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPS5 were changed from to Hermansky-Pudlak syndrome 5 (MIM#614074)",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:24:12.025578+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPS5 were set to ",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:23:49.693984+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HPS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:22:35.764085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IBA57 were changed from Multiple mitochondrial dysfunctions syndrome 3, MIM#615330 to Multiple mitochondrial dysfunctions syndrome 3, MIM#615330; Spastic paraplegia 74, autosomal recessive MIM#616451",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:22:22.405038+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IBA57 were set to 23462291; 25971455; 27785568; 28671726; 28913435",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:21:54.826119+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 15 families reported with bi-allelic variants in this gene and a severe neurodegenerative disorder characterised by loss of previously acquired developmental milestones in the first months or years of life. Some affected individuals have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some individuals die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some individuals may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable.; to: MMDS3: More than 15 families reported with bi-allelic variants in this gene and a severe neurodegenerative disorder characterised by loss of previously acquired developmental milestones in the first months or years of life. Some affected individuals have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some individuals die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some individuals may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable.\r\n\r\nSPG74: Three families with spastic paraparesis as a feature of the condition. ",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:21:15.534415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IBA57: Changed phenotypes: Multiple mitochondrial dysfunctions syndrome 3, MIM#615330, Spastic paraplegia 74, autosomal recessive MIM#616451",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:20:59.914285+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IBA57: Changed publications: 23462291, 25971455, 27785568, 28671726, 28913435, 25609768 30258207",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:19:54.480750+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IBA57 as ready",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:19:54.471824+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iba57 has been classified as Green List (High Evidence).",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:19:51.427618+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IBA57 were changed from to Multiple mitochondrial dysfunctions syndrome 3, MIM# 615330",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:19:26.338115+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IBA57 were set to ",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:19:04.626715+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IBA57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:18:35.581271+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: 23462291, 25971455, 27785568, 28671726, 28913435; Phenotypes: Multiple mitochondrial dysfunctions syndrome 3, MIM# 615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:17:49.054271+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IBA57 as ready",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:17:49.045611+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iba57 has been classified as Green List (High Evidence).",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:17:42.085400+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IBA57 were changed from to Multiple mitochondrial dysfunctions syndrome 3, MIM#615330",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:17:25.018986+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IBA57 were set to ",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:17:07.403460+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IBA57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:16:49.428347+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: 23462291, 25971455, 27785568, 28671726, 28913435; Phenotypes: Multiple mitochondrial dysfunctions syndrome 3, MIM#615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:15:48.771775+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IBA57 as ready",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:15:48.757913+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iba57 has been classified as Green List (High Evidence).",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:15:42.927328+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IBA57 were changed from Multiple mitochondrial dysfunctions syndrome 3, 615330 to Multiple mitochondrial dysfunctions syndrome 3, MIM#615330",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:15:34.357368+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IBA57 were set to ",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T20:15:16.352223+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: 23462291, 25971455, 27785568, 28671726, 28913435; Phenotypes: Multiple mitochondrial dysfunctions syndrome 3, MIM# 615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T17:49:05.100944+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4528",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: RP1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23281133, 30025130, 32360662; Phenotypes: Occult macular dystrophy (MIM#613587) AD, Retinitis pigmentosa 88 (MIM#618826) AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "RP1L1",
"entity_type": "gene"
},
{
"created": "2020-09-21T16:49:29.524723+10:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.15",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8439335, 9360501, 15240589, 9814506, 12788848, 8772616; Phenotypes: Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600).; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2020-09-21T16:47:38.446508+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4528",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8439335, 9360501, 15240589, 9814506, 12788848, 8772616; Phenotypes: Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600).; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2020-09-21T16:27:31.267437+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.9",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: HPS5: Changed rating: GREEN",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2020-09-21T16:27:25.258537+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.9",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HPS5: Rating: ; Mode of pathogenicity: None; Publications: 28296950, 32725903; Phenotypes: Hermansky-Pudlak syndrome 5 (MIM#614074),; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2020-09-21T14:51:09.849709+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.201",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: 27785568, 28671726; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-09-21T14:22:43.310862+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.50",
"user_name": "David Metz",
"item_type": "entity",
"text": "gene: UGT1A1 was added\ngene: UGT1A1 was added to Pharmacogenomics_Paediatric. Sources: Other\nMode of inheritance for gene: UGT1A1 was set to Other\nPublications for gene: UGT1A1 were set to 21412232; 25817555; 26417955\nPhenotypes for gene: UGT1A1 were set to Irinotecan metabolism, increased toxicities with reduced metaboliser status; Atazanavir metabolism, increased risk jaundice and discontinuation with reduced metaboliser status\nMode of pathogenicity for gene: UGT1A1 was set to Other\nReview for gene: UGT1A1 was set to GREEN\nAdded comment: Sources: Other",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2020-09-21T14:16:30.250006+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.50",
"user_name": "David Metz",
"item_type": "entity",
"text": "reviewed gene: SLCO1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22617227; Phenotypes: Risk for simvastatin-induced myopathy; Mode of inheritance: None",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2020-09-21T13:11:00.193473+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-09-21T13:10:00.667970+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTR was added\ngene: TTR was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TTR were set to 31590893; 26522458\nPhenotypes for gene: TTR were set to DTTRH; [Dystransthyretinemic hyperthyroxinemia], 145680\nMode of pathogenicity for gene: TTR was set to Other",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2020-09-21T13:10:00.632549+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSHR was added\ngene: TSHR was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: TSHR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TSHR were set to Hyperthyroidism, nonautoimmune, 609152; Congenital, nonautoimmune hyperthyroidism",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2020-09-21T13:10:00.598647+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THRB was added\ngene: THRB was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: THRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: THRB were set to 24847459\nPhenotypes for gene: THRB were set to Thyroid Hormone Resistance, Selective Pituitary; 145650; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; thyroid hormone unresponsiveness, generalized RTH, RTH beta; THYROID HORMONE UNRESPONSIVENESS; REFETOFF SYNDROME; Refetoff syndrome; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; PRTH; Thyroid hormone resistance, selective pituitary, 145650; GRTH; THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; Resistance to thyroid hormone (RTH); Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300; Thyroid Hormone Resistance (monoallelic); HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION; THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2020-09-21T13:10:00.564023+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THRA was added\ngene: THRA was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: THRA were set to 24847459; 27144938; 22168587; 23940126; 2567082; 22494134; 27381958\nPhenotypes for gene: THRA were set to Resistance to Thyroid Hormone due to defective thyroid receptor alpha (RTHa); Hypothyroidism, congenital, nongoitrous, 6, 614450; congenital nongoitrous hypothyroidism 6; RTH alpha; HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; Resistance to thyroid hormone alpha; CHNG6",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2020-09-21T13:10:00.529846+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC16A2 was added\ngene: SLC16A2 was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SLC16A2 were set to 24847459\nPhenotypes for gene: SLC16A2 were set to MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA; mental retardation, X-linked, with hypotonia; Allan-Herndon-Dudley syndrome; ALLAN-HERNDON SYNDROME; T3 RESISTANCE; AHDS; ALLAN-HERNDON-DUDLEY SYNDROME; MENTAL RETARDATION AND MUSCULAR ATROPHY; Monocarboxylate transporter 8 (MCT8) defect; MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency; TRIIODOTHYRONINE RESISTANCE; Allan-Herndon-Dudley syndrome, 300523; monocarboxylate transporter 8 (MCT8) deficiency; Allan-Herndon-Dudley Syndrome; 300523; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; Allan_Herndon_Dudley Syndrome",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-21T13:10:00.492672+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SECISBP2 was added\ngene: SECISBP2 was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SECISBP2 were set to 22986150; 24629861; 19602558; 22247018; 20501692; 16228000; Diversity Selenium Functions in Health and Disease, Edited by Regina Brigelius-Flohe and Helmut Sies, Chapter 16. Mutations in SECISBP2. Erik Schoenmakers, Carla Moran, Nadia Schoenmakers and Krishna Chatterjee. CRC Press 2015. Pages 343 376. Print ISBN: 978-1-4822-5126-5. eBook ISBN: 978-1-4822-5127-2. DOI: 10.1201/b18810-23; 21084748\nPhenotypes for gene: SECISBP2 were set to Selenocysteine insertion sequence binding protein 2 (SBP2) defect; Thyroid hormone metabolism, abnormal, 609698; Short stature-delayed bone age due to thyroid hormone metabolism deficiency; THYROID HORMONE METABOLISM, ABNORMAL; Abnormal thyroid hormone metabolism",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2020-09-21T13:10:00.456439+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALB was added\ngene: ALB was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ALB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ALB were set to 29163366; 24646103; 8064810; 27834068\nPhenotypes for gene: ALB were set to Familial dysalbuminaemic hyperthyroxinaemia; [Dysalbuminemic hyperthyroxinemia], 615999",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2020-09-21T13:10:00.431793+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added panel Hyperthyroidism",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-09-21T11:19:14.124504+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.50",
"user_name": "David Metz",
"item_type": "entity",
"text": "edited their review of gene: CYP2C9: Changed phenotypes: Phenytoin metabolism - increased risk toxicities",
"entity_name": "CYP2C9",
"entity_type": "gene"
},
{
"created": "2020-09-21T11:18:45.446667+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.50",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: 25099164\r\nReduced phenytoin metabolism, increased risk phenytoin-induced SJS/TEN\r\nIf CYP2C9 IM or PM and phenytoin naive, avoid phenytoin.; to: 25099164\r\nIf CYP2C9 IM, consider 25% reduction starting dose (moderate recommendation).\r\nIf CYP2C9 PM, consider 50% reduction starting dose phenytoin (strong recommendation).\r\n",
"entity_name": "CYP2C9",
"entity_type": "gene"
},
{
"created": "2020-09-21T11:17:15.420608+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.50",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: \r\nHLA-B*15:02: \r\nIncreased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncrease oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncreased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).\r\nIncreased phenytoin-induced SJS/TEN (moderate association, 23692434).\r\n\r\nPMID 26094938\r\nHLA-B*58:01 and allopurinol-induced SJS/TEN\r\n\r\nPMID: 23232549\r\nCarrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).\r\n\r\nHLA-B*5701 and Abacavir hypersensitivity.\r\n25934581, 22378157\r\n\r\nHLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).\t\r\nhttps://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810\r\n\r\nPMID 32714190 (review article)\r\nHLA-B*57:01, carbamazepine and SJS/TEN.\r\nHLA-B*15:11, carbamazepine and SJS/TEN.\r\n\r\nHLA-B*13:01, dapsone and DRESS (29458119); to: \r\nHLA-B*15:02: \r\nIncreased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncrease oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncreased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).\r\nIncreased phenytoin-induced SJS/TEN (25099164).\r\n\r\nPMID 26094938\r\nHLA-B*58:01 and allopurinol-induced SJS/TEN\r\n\r\nPMID: 23232549\r\nCarrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).\r\n\r\nHLA-B*5701 and Abacavir hypersensitivity.\r\n25934581, 22378157\r\n\r\nHLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).\t\r\nhttps://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810\r\n\r\nPMID 32714190 (review article)\r\nHLA-B*57:01, carbamazepine and SJS/TEN.\r\nHLA-B*15:11, carbamazepine and SJS/TEN.\r\n\r\nHLA-B*13:01, dapsone and DRESS (29458119)",
"entity_name": "HLA-B",
"entity_type": "gene"
},
{
"created": "2020-09-21T11:01:12.879340+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.50",
"user_name": "David Metz",
"item_type": "entity",
"text": "edited their review of gene: CYP2C9: Added comment: 25099164\r\nReduced phenytoin metabolism, increased risk phenytoin-induced SJS/TEN\r\nIf CYP2C9 IM or PM and phenytoin naive, avoid phenytoin.; Changed publications: 18406467, 25099164; Changed phenotypes: Increased risk phenytoin-induced SJS/TEN",
"entity_name": "CYP2C9",
"entity_type": "gene"
},
{
"created": "2020-09-21T10:55:51.749773+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.50",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: \r\nHLA-B*15:02: \r\nIncreased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncrease oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncreased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).\r\nIncreased phenytoin-induced SJS/TEN (moderate association, 23692434).\r\n\r\nPMID 26094938\r\nHLA-B*58:01 and allopurinol-induced SJS/TEN\r\n\r\nPMID: 23232549\r\nCarrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).\r\n\r\nHLA-B*5701 and Abacavir hypersensitivity.\r\n25934581, 22378157\r\n\r\nHLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).\t\r\nhttps://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810\r\n\r\nPMID 32714190 (review article)\r\nHLA-B*57:01, carbamazepine and SJS/TEN.\r\nHLA-B*15:11, carbamazepine and SJS/TEN.\r\n\r\nHLA-B*13:01, dapsone and DRESS (29458119); to: \r\nHLA-B*15:02: \r\nIncreased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncrease oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncreased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).\r\nIncreased phenytoin-induced SJS/TEN (moderate association, 23692434).\r\n\r\nPMID 26094938\r\nHLA-B*58:01 and allopurinol-induced SJS/TEN\r\n\r\nPMID: 23232549\r\nCarrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).\r\n\r\nHLA-B*5701 and Abacavir hypersensitivity.\r\n25934581, 22378157\r\n\r\nHLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).\t\r\nhttps://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810\r\n\r\nPMID 32714190 (review article)\r\nHLA-B*57:01, carbamazepine and SJS/TEN.\r\nHLA-B*15:11, carbamazepine and SJS/TEN.\r\n\r\nHLA-B*13:01, dapsone and DRESS (29458119)",
"entity_name": "HLA-B",
"entity_type": "gene"
},
{
"created": "2020-09-21T10:06:53.530763+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.50",
"user_name": "David Metz",
"item_type": "entity",
"text": "gene: SLCO1B1 was added\ngene: SLCO1B1 was added to Pharmacogenomics_Paediatric. Sources: Other\nMode of inheritance for gene: SLCO1B1 was set to Other\nPublications for gene: SLCO1B1 were set to 22617227\nPhenotypes for gene: SLCO1B1 were set to Risk for simvastatin-induced myopathy\nMode of pathogenicity for gene: SLCO1B1 was set to Other",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2020-09-21T10:05:08.497794+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.50",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: Fluoropyrimidine Dosing \nSources: Other; to: Fluoropyrimidine (5-FU) Dosing \r\nCapecitabine\r\nTegafur\r\n\r\nSources: \r\n31038729\r\n28262261\r\nhttps://www.pharmgkb.org/guidelineAnnotation/PA166202721",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-09-21T10:01:19.711822+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.498",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NDUFV2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12754703, 19167255, 26008862; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2020-09-21T09:01:46.040815+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NSUN3 were changed from combined mitochondrial respiratory chain complex deficiency to Combined oxidative phosphorylation deficiency 48, MIM# 619012",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2020-09-21T09:01:26.402498+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NSUN3 were set to 27356879",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2020-09-21T09:01:04.144949+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NSUN3: Added comment: Second family reported with early-onset mitochondrial encephalomyopathy and seizures.; Changed publications: 27356879, 32488845; Changed phenotypes: Combined oxidative phosphorylation deficiency 48, MIM# 619012",
"entity_name": "NSUN3",
"entity_type": "gene"
}
]
}