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{
"count": 220263,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1417",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1415",
"results": [
{
"created": "2021-02-07T20:39:39.477104+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHGDH as ready",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2021-02-07T20:39:39.465706+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phgdh has been classified as Green List (High Evidence).",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2021-02-07T20:39:31.898177+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHGDH were changed from to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2021-02-07T20:37:23.919560+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHGDH were set to ",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2021-02-07T20:36:58.777838+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2021-02-07T20:36:36.900962+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHGDH as ready",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2021-02-07T20:36:36.893172+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phgdh has been classified as Green List (High Evidence).",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2021-02-07T20:36:31.975029+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24836451, 25152457, 11055895, 19235232; Phenotypes: Neu-Laxova syndrome 1 256520, Phosphoglycerate dehydrogenase deficiency 601815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2021-02-07T20:35:42.035023+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHGDH as Green List (high evidence)",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2021-02-07T20:35:42.027742+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phgdh has been classified as Green List (High Evidence).",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2021-02-07T20:35:31.348553+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHGDH was added\ngene: PHGDH was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PHGDH were set to 24836451; 25152457; 11055895; 19235232\nPhenotypes for gene: PHGDH were set to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815\nReview for gene: PHGDH was set to GREEN\nAdded comment: Well established gene-disease association, severity depends on amount of residual enzyme activity. \nSources: Expert list",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2021-02-07T18:03:00.328956+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.287",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: OPLAH as Red List (low evidence)",
"entity_name": "OPLAH",
"entity_type": "gene"
},
{
"created": "2021-02-07T18:03:00.323936+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.287",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Appears to be a benign biochemical defect",
"entity_name": "OPLAH",
"entity_type": "gene"
},
{
"created": "2021-02-07T18:03:00.299639+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.287",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: oplah has been classified as Red List (Low Evidence).",
"entity_name": "OPLAH",
"entity_type": "gene"
},
{
"created": "2021-02-07T18:02:20.095219+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.286",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OPLAH was added\ngene: OPLAH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: OPLAH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OPLAH were set to 27604308; 27477828\nPhenotypes for gene: OPLAH were set to 5-oxoprolinase deficiency MIM#260005; Disorders of the gamma-glutamyl cycle\nReview for gene: OPLAH was set to GREEN\nAdded comment: Characterized as an inborn error of glutathione metabolism, but there is debate as to whether OPLAH deficiency represents a disorder or simply a biochemical condition with no adverse clinical effects because patients lack a consistent clinical picture apart from 5-oxoprolinuria. Clinical features were highly variable and in several sib pairs, did not segregate with 5-oxoprolinuria in 14 families from various backgrounds \nSources: NHS GMS",
"entity_name": "OPLAH",
"entity_type": "gene"
},
{
"created": "2021-02-07T15:16:03.465841+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: REC114 were changed from Female infertility to Female infertility; Oocyte maturation defect 10, MIM# 619176",
"entity_name": "REC114",
"entity_type": "gene"
},
{
"created": "2021-02-07T15:15:40.954319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: REC114: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oocyte maturation defect 10, MIM# 619176; Mode of inheritance: None",
"entity_name": "REC114",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:23:12.067430+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PINK1 as ready",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:23:12.057483+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pink1 has been classified as Green List (High Evidence).",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:23:08.665278+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PINK1 as Green List (high evidence)",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:23:08.657716+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pink1 has been classified as Green List (High Evidence).",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:22:59.427401+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PINK1 was added\ngene: PINK1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PINK1 were set to 27604308; 15087508; 16207731; 18003639; 18524835\nPhenotypes for gene: PINK1 were set to Parkinson disease 6, early onset, MIM#\t605909\nReview for gene: PINK1 was set to GREEN\nAdded comment: The PINK1 gene encodes a mitochondrially located serine/threonine kinase. Multiple families reported. \nSources: Expert list",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:17:46.079521+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNP as ready",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:17:46.072144+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnp has been classified as Green List (High Evidence).",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:17:30.884118+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNP were changed from to Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:17:13.713544+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNP were set to ",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:16:56.050255+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:16:38.412185+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 3029074, 1384322, 11453975, 32695102, 32514656; Phenotypes: Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:16:29.588841+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNP as ready",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:16:29.580966+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnp has been classified as Green List (High Evidence).",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:15:53.536691+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PNP as Green List (high evidence)",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:15:53.525917+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnp has been classified as Green List (High Evidence).",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:15:43.897987+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNP was added\ngene: PNP was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNP were set to 3029074; 1384322; 11453975; 32695102; 32514656\nPhenotypes for gene: PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM#\t613179\nReview for gene: PNP was set to GREEN\nAdded comment: Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment.\r\n\r\nSeverity and age of onset dependent on amount of residual activity. Multiple families reported. \nSources: Expert list",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:11:40.056938+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPLA2 as ready",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:11:40.046428+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpla2 has been classified as Green List (High Evidence).",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:11:33.204904+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA2 were changed from to Neutral lipid storage disease with myopathy MIM#610717",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:11:15.788106+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNPLA2 were set to ",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:10:56.825001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNPLA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:10:38.949514+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18952067, 25287355, 25956450, 21544567; Phenotypes: Neutral lipid storage disease with myopathy MIM#610717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:08:04.377414+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:03:00.701703+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POR as ready",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:03:00.673852+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: por has been classified as Green List (High Evidence).",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:02:56.506269+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POR as Green List (high evidence)",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:02:56.495995+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: por has been classified as Green List (High Evidence).",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:02:46.981146+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POR was added\ngene: POR was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POR were set to 27604308; 14758361; 15793702; 15220035; 15483095; 16470797\nPhenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571\nReview for gene: POR was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:00:03.232586+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRODH as ready",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2021-02-07T14:00:03.224183+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prodh has been classified as Green List (High Evidence).",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:59:44.245984+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRODH as Green List (high evidence)",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:59:44.235623+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prodh has been classified as Green List (High Evidence).",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:59:28.773232+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRODH was added\ngene: PRODH was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: PRODH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRODH were set to 17412540; 12217952\nPhenotypes for gene: PRODH were set to Hyperprolinemia, type I\t239500; Proline oxidase deficiency\nReview for gene: PRODH was set to GREEN\nAdded comment: At least 5 unrelated families reported. \nSources: Expert list",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:56:33.161886+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRPS1 as ready",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:56:33.150395+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prps1 has been classified as Green List (High Evidence).",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:56:28.580541+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRPS1 as Green List (high evidence)",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:56:28.572957+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prps1 has been classified as Green List (High Evidence).",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:56:17.779292+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRPS1 was added\ngene: PRPS1 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review\nMode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PRPS1 were set to Arts syndrome 301835; Charcot-Marie-Tooth disease, X-linked recessive, 5 311070; Deafness, X-linked 1 304500; Gout, PRPS-related 300661; Phosphoribosylpyrophosphate synthetase superactivity 300661\nReview for gene: PRPS1 was set to GREEN\nAdded comment: Phosphoribosylpyrophosphate synthetase catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for the de novo and salvage pathways of purine and pyrimidine biosynthesis.\r\n\r\nBoth increased and decreased enzyme activity has been linked to disease. \nSources: Expert Review",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:52:20.740796+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSAT1 as ready",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:52:20.733116+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psat1 has been classified as Green List (High Evidence).",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:52:16.407633+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSAT1 as Green List (high evidence)",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:52:16.396932+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psat1 has been classified as Green List (High Evidence).",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:52:04.904601+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSAT1 was added\ngene: PSAT1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSAT1 were set to 32077105\nPhenotypes for gene: PSAT1 were set to Phosphoserine aminotransferase deficiency MIM#610992; Neu-Laxova syndrome 2 MIM#616038\nReview for gene: PSAT1 was set to GREEN\nAdded comment: Severity of disease correlates with residual enzyme activity. Multiple families reported. \nSources: Expert list",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:48:00.812070+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBP4 as ready",
"entity_name": "RBP4",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:48:00.801685+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbp4 has been classified as Green List (High Evidence).",
"entity_name": "RBP4",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:47:56.677541+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBP4 as Green List (high evidence)",
"entity_name": "RBP4",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:47:56.659150+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbp4 has been classified as Green List (High Evidence).",
"entity_name": "RBP4",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:47:45.676619+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBP4 was added\ngene: RBP4 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: RBP4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: RBP4 were set to 9888420; 23189188; 25910211; 32323592; 29847795; 29178648; 27892788\nPhenotypes for gene: RBP4 were set to Microphthalmia, isolated, with coloboma 10, MIM#\t616428; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, MIM#\t615147\nReview for gene: RBP4 was set to GREEN\nAdded comment: Retinol-binding protein (RBP) is a monomeric-binding protein that specifically transports retinol, the alcoholic form of vitamin A, in plasma from its main store site, the liver, to target cells.\r\n\r\nAt least 4 families with bi-allelic variants and at least 2 families with mono allelic variants. Functional data including animal models. \nSources: Expert list",
"entity_name": "RBP4",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:41:00.920817+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 14988808, 31056085, 31247379; Phenotypes: Ribose 5-phosphate isomerase deficiency, MIM# 608611, Leukoencephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:39:59.262992+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPIA as ready",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:39:59.252398+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpia has been classified as Green List (High Evidence).",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:39:55.315688+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPIA as Green List (high evidence)",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:39:55.307325+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpia has been classified as Green List (High Evidence).",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:39:44.771375+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPIA was added\ngene: RPIA was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPIA were set to 14988808; 31056085; 31247379\nPhenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM#\t608611; Leukoencephalopathy\nReview for gene: RPIA was set to GREEN\nAdded comment: Three unrelated families reported. \nSources: Expert list",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:34:51.892598+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NT5C3A as ready",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:34:51.880492+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nt5c3a has been classified as Green List (High Evidence).",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:34:48.642196+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NT5C3A as Green List (high evidence)",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:34:48.631383+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nt5c3a has been classified as Green List (High Evidence).",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:34:40.436854+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.267",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NT5C3A was added\ngene: NT5C3A was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NT5C3A were set to 11369620; 11369620\nPhenotypes for gene: NT5C3A were set to Anemia, hemolytic, due to UMPH1 deficiency MIM#266120; disorder of pyrimidine metabolism\nReview for gene: NT5C3A was set to GREEN\ngene: NT5C3A was marked as current diagnostic\nAdded comment: Well-established gene-disease association(see OMIM entry). Hemolytic anemia due to UMPH1 deficiency is an inborn error of pyrimidine metabolism. \nSources: NHS GMS",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:29:35.837238+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.266",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NSDHL as ready",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:29:35.827871+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.266",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nsdhl has been classified as Green List (High Evidence).",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:29:32.193854+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.266",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NSDHL as Green List (high evidence)",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:29:32.183316+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.266",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nsdhl has been classified as Green List (High Evidence).",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:29:20.140422+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.265",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NSDHL was added\ngene: NSDHL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: NSDHL were set to 27604308; 10710235\nPhenotypes for gene: NSDHL were set to CHILD syndrome MIM#308050; Disorders of sterol biosynthesis\nReview for gene: NSDHL was set to GREEN\ngene: NSDHL was marked as current diagnostic\nAdded comment: Well-established gene-disease association(see OMIM entry). CHILD syndrome is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sterol metabolism. \nSources: NHS GMS",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:22:15.781496+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.264",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MVK as ready",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:22:15.771271+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.264",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mvk has been classified as Green List (High Evidence).",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:22:10.792448+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.264",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MVK as Green List (high evidence)",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:22:10.785643+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.264",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mvk has been classified as Green List (High Evidence).",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:21:58.526222+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.263",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MVK was added\ngene: MVK was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MVK were set to 27604308; 1377680\nPhenotypes for gene: MVK were set to Mevalonic aciduria MIM#610377; Disorders of sterol biosynthesis\nReview for gene: MVK was set to GREEN\ngene: MVK was marked as current diagnostic\nAdded comment: Well-established gene-disease association(see OMIM entry). Mevalonic aciduria is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sterol metabolism. \nSources: NHS GMS",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:11:12.852572+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.262",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GPHN as ready",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:11:12.841749+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.262",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gphn has been classified as Green List (High Evidence).",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:11:08.921503+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.262",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GPHN as Green List (high evidence)",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:11:08.913840+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.262",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gphn has been classified as Green List (High Evidence).",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:10:59.890601+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.261",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GPHN was added\ngene: GPHN was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPHN were set to 27604308; 11095995; 22040219; 9812897\nPhenotypes for gene: GPHN were set to Molybdenum cofactor deficiency C MIM#615501; Disorders of molybdenum cofactor metabolism\nReview for gene: GPHN was set to GREEN\nAdded comment: 4 cases in 2 unrelated families and a supporting null mouse model. \nSources: NHS GMS",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:01:48.704327+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.260",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MTTP as ready",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:01:48.696677+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.260",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mttp has been classified as Green List (High Evidence).",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:01:45.380635+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.260",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MTTP as Green List (high evidence)",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:01:45.371932+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.260",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mttp has been classified as Green List (High Evidence).",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-02-07T13:01:28.383592+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.259",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MTTP was added\ngene: MTTP was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTTP were set to 27604308; 8533758\nPhenotypes for gene: MTTP were set to Abetalipoproteinemia MIM#200100; Inherited hypolipidaemias\nReview for gene: MTTP was set to GREEN\ngene: MTTP was marked as current diagnostic\nAdded comment: Well-established gene-disease association(see OMIM entry). is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of lipid metabolism. \nSources: NHS GMS",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-02-07T12:57:02.228355+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.258",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MTRR as ready",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2021-02-07T12:57:02.220322+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.258",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mtrr has been classified as Green List (High Evidence).",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2021-02-07T12:56:58.705837+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.258",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MTRR as Green List (high evidence)",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2021-02-07T12:56:58.693646+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.258",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mtrr has been classified as Green List (High Evidence).",
"entity_name": "MTRR",
"entity_type": "gene"
}
]
}