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{
"count": 220263,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1415",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1413",
"results": [
{
"created": "2021-02-09T09:12:20.594995+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.332",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CD320 was added\ngene: CD320 was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for gene: CD320 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD320 were set to 29663633; 27604308; 30303736\nPhenotypes for gene: CD320 were set to Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646; Disorders of cobalamin absorption, transport and metabolism\nReview for gene: CD320 was set to GREEN\nAdded comment: At least 9 cases reported with biallelic variants, all but 1 case are homozygous for p.Glu88del. The AF of this variant is ~1% in gnomAD v2.1.1, with 12 homozygotes. However, this is not unexpected given the apparent asymptomatic nature of the metabolic condition. Null mouse model has vitamin B12 deficiency. \nSources: Literature",
"entity_name": "CD320",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:20:54.949690+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUGCT as ready",
"entity_name": "SUGCT",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:20:54.938997+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sugct has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUGCT",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:20:47.242831+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUGCT were changed from to Glutaric aciduria III MIM#231690; Organic acidurias",
"entity_name": "SUGCT",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:20:29.820416+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUGCT were set to ",
"entity_name": "SUGCT",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:20:09.423105+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUGCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUGCT",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:19:51.570021+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUGCT as Amber List (moderate evidence)",
"entity_name": "SUGCT",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:19:51.562713+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sugct has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUGCT",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:19:33.094378+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SUGCT: Rating: AMBER; Mode of pathogenicity: None; Publications: 28766179, 18926513, 33483254, 32779420, 27604308; Phenotypes: Glutaric aciduria III MIM#231690, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUGCT",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:18:05.409197+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC36A2 as ready",
"entity_name": "SLC36A2",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:18:05.400703+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc36a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC36A2",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:17:56.392888+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC36A2 were changed from to Hyperglycinuria MIM#138500; Iminoglycinuria, digenic MIM#242600; Disorders of amino acid transport",
"entity_name": "SLC36A2",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:17:20.787795+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC36A2 were set to ",
"entity_name": "SLC36A2",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:16:54.761033+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC36A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC36A2",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:16:37.370568+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC36A2 as Amber List (moderate evidence)",
"entity_name": "SLC36A2",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:16:37.363017+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc36a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC36A2",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:16:17.719312+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC36A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19033659, 26141664, 27604308; Phenotypes: Hyperglycinuria MIM#138500, Iminoglycinuria, digenic MIM#242600, Disorders of amino acid transport; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC36A2",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:15:08.345493+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SARDH as ready",
"entity_name": "SARDH",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:15:08.337620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sardh has been classified as Amber List (Moderate Evidence).",
"entity_name": "SARDH",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:13:58.750938+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SARDH were changed from to Sarcosinemia MIM#268900; Disorders of serine, glycine or glycerate metabolism",
"entity_name": "SARDH",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:13:35.421505+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SARDH were set to ",
"entity_name": "SARDH",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:13:15.345220+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SARDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SARDH",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:12:57.329823+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SARDH as Amber List (moderate evidence)",
"entity_name": "SARDH",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:12:57.322948+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sardh has been classified as Amber List (Moderate Evidence).",
"entity_name": "SARDH",
"entity_type": "gene"
},
{
"created": "2021-02-08T21:12:39.660905+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SARDH: Rating: AMBER; Mode of pathogenicity: None; Publications: 22825317, 27604308; Phenotypes: Sarcosinemia MIM#268900, Disorders of serine, glycine or glycerate metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SARDH",
"entity_type": "gene"
},
{
"created": "2021-02-08T19:09:11.548339+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OPLAH as ready",
"entity_name": "OPLAH",
"entity_type": "gene"
},
{
"created": "2021-02-08T19:09:11.537386+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oplah has been classified as Amber List (Moderate Evidence).",
"entity_name": "OPLAH",
"entity_type": "gene"
},
{
"created": "2021-02-08T19:09:04.312407+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPLAH were changed from to 5-oxoprolinase deficiency MIM#260005; Disorders of the gamma-glutamyl cycle",
"entity_name": "OPLAH",
"entity_type": "gene"
},
{
"created": "2021-02-08T19:08:44.637533+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OPLAH were set to ",
"entity_name": "OPLAH",
"entity_type": "gene"
},
{
"created": "2021-02-08T19:08:24.553015+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OPLAH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OPLAH",
"entity_type": "gene"
},
{
"created": "2021-02-08T19:02:02.788295+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OPLAH as Amber List (moderate evidence)",
"entity_name": "OPLAH",
"entity_type": "gene"
},
{
"created": "2021-02-08T19:02:02.777217+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oplah has been classified as Amber List (Moderate Evidence).",
"entity_name": "OPLAH",
"entity_type": "gene"
},
{
"created": "2021-02-08T19:01:44.943057+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: OPLAH.",
"entity_name": "OPLAH",
"entity_type": "gene"
},
{
"created": "2021-02-08T19:01:26.401226+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OPLAH: Rating: AMBER; Mode of pathogenicity: None; Publications: 27604308, 27477828; Phenotypes: 5-oxoprolinase deficiency MIM#260005, Disorders of the gamma-glutamyl cycle; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OPLAH",
"entity_type": "gene"
},
{
"created": "2021-02-08T19:00:00.582518+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KHK as ready",
"entity_name": "KHK",
"entity_type": "gene"
},
{
"created": "2021-02-08T19:00:00.572963+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: khk has been classified as Amber List (Moderate Evidence).",
"entity_name": "KHK",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:59:53.015196+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KHK were changed from to Fructosuria MIM#229800; Disorders of fructose metabolism",
"entity_name": "KHK",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:59:31.474027+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KHK were set to ",
"entity_name": "KHK",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:59:11.007326+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KHK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KHK",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:58:53.261402+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KHK as Amber List (moderate evidence)",
"entity_name": "KHK",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:58:53.253353+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: khk has been classified as Amber List (Moderate Evidence).",
"entity_name": "KHK",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:58:36.268443+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KHK: Rating: AMBER; Mode of pathogenicity: None; Publications: 7833921, 27604308, 29870677; Phenotypes: Fructosuria MIM#229800, Disorders of fructose metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KHK",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:57:11.891222+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HAL as ready",
"entity_name": "HAL",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:57:11.883698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hal has been classified as Amber List (Moderate Evidence).",
"entity_name": "HAL",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:57:02.210738+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HAL were changed from to Histidinemia MIM#235800; Disorders of histidine, tryptophan or lysine metabolism",
"entity_name": "HAL",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:56:27.297411+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HAL were set to ",
"entity_name": "HAL",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:56:07.446023+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HAL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HAL",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:55:49.895383+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HAL as Amber List (moderate evidence)",
"entity_name": "HAL",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:55:49.887636+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hal has been classified as Amber List (Moderate Evidence).",
"entity_name": "HAL",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:55:31.502100+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HAL: Rating: AMBER; Mode of pathogenicity: None; Publications: 27604308, 15806399, 20156889; Phenotypes: Histidinemia MIM#235800, Disorders of histidine, tryptophan or lysine metabolism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HAL",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:54:01.042580+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GGT1 were changed from ?Glutathioninuria 231950 to Glutathioninuria 231950",
"entity_name": "GGT1",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:38:38.989917+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GGT1 as Amber List (moderate evidence)",
"entity_name": "GGT1",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:38:38.975818+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ggt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GGT1",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:38:20.794475+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GGT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GGT1",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:27:34.668344+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCXR as ready",
"entity_name": "DCXR",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:27:34.659935+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcxr has been classified as Amber List (Moderate Evidence).",
"entity_name": "DCXR",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:27:23.953938+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DCXR as Amber List (moderate evidence)",
"entity_name": "DCXR",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:27:23.943964+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcxr has been classified as Amber List (Moderate Evidence).",
"entity_name": "DCXR",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:27:06.718698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCXR was added\ngene: DCXR was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: DCXR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCXR were set to 22042873\nPhenotypes for gene: DCXR were set to Pentosuria MIM#260800; Disorders of pentose metabolism\nReview for gene: DCXR was set to AMBER\nAdded comment: At least 9 Ashkenazi Jewish probands reported. The condition is clinically benign. \nSources: Expert list",
"entity_name": "DCXR",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:25:07.903782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTH as ready",
"entity_name": "CTH",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:25:07.891890+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cth has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTH",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:25:00.918680+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTH were changed from to Cystathioninuria MIM#219500",
"entity_name": "CTH",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:24:38.051431+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTH were set to ",
"entity_name": "CTH",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:24:13.417086+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTH",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:23:55.712629+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTH as Amber List (moderate evidence)",
"entity_name": "CTH",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:23:55.704400+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cth has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTH",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:23:36.451903+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTH: Rating: AMBER; Mode of pathogenicity: None; Publications: 12574942, 20584029, 24761004, 15151507; Phenotypes: Cystathioninuria MIM#219500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTH",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:22:01.631390+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACSF3 as ready",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:22:01.620500+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acsf3 has been classified as Red List (Low Evidence).",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:21:56.251108+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACSF3 were set to ",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:21:41.260683+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACSF3 as Red List (low evidence)",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:21:41.249515+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acsf3 has been classified as Red List (Low Evidence).",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2021-02-08T18:21:30.282868+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACSF3: Rating: RED; Mode of pathogenicity: None; Publications: 21841779, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2021-02-08T17:51:41.269290+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACSF3: Rating: RED; Mode of pathogenicity: None; Publications: 21841779, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2021-02-08T17:50:32.824990+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACSF3 as ready",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2021-02-08T17:50:32.814475+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acsf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2021-02-08T17:49:00.866941+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACSF3 were changed from to Combined malonic and methylmalonic aciduria MIM#614265",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2021-02-08T17:48:35.311483+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACSF3 were set to ",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2021-02-08T17:48:19.655346+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACSF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2021-02-08T17:47:38.585852+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACSF3 as Amber List (moderate evidence)",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2021-02-08T17:47:38.575643+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acsf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2021-02-08T17:47:22.301309+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACSF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 21841779, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2021-02-08T17:44:08.887217+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: AASS.",
"entity_name": "AASS",
"entity_type": "gene"
},
{
"created": "2021-02-08T17:31:12.289058+11:00",
"panel_name": "Neurodegenerative disease - adult onset",
"panel_id": 3374,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-02-08T17:23:13.638655+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.331",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GATM as Green List (high evidence)",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2021-02-08T17:23:13.628287+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.331",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gatm has been classified as Green List (High Evidence).",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2021-02-08T17:23:00.959896+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.330",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GATM was added\ngene: GATM was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GATM were set to 11555793; 27604308\nPhenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3 MIM#612718\nReview for gene: GATM was set to GREEN\ngene: GATM was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). L-arginine:glycine amidinotransferase (AGAT) deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of creatine metabolism. \nSources: NHS GMS",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2021-02-08T16:32:12.501705+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.328",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KHK as ready",
"entity_name": "KHK",
"entity_type": "gene"
},
{
"created": "2021-02-08T16:32:12.493945+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.328",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: khk has been classified as Amber List (Moderate Evidence).",
"entity_name": "KHK",
"entity_type": "gene"
},
{
"created": "2021-02-08T16:32:09.239268+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.328",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KHK as Amber List (moderate evidence)",
"entity_name": "KHK",
"entity_type": "gene"
},
{
"created": "2021-02-08T16:32:09.235458+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.328",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Likely a clinically benign condition",
"entity_name": "KHK",
"entity_type": "gene"
},
{
"created": "2021-02-08T16:32:09.214018+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.328",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: khk has been classified as Amber List (Moderate Evidence).",
"entity_name": "KHK",
"entity_type": "gene"
},
{
"created": "2021-02-08T16:31:16.667298+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.327",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KHK was added\ngene: KHK was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for gene: KHK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KHK were set to 7833921; 27604308; 29870677\nPhenotypes for gene: KHK were set to Fructosuria MIM#229800; Disorders of fructose metabolism\nReview for gene: KHK was set to AMBER\nAdded comment: Single family with a non-pathogenic phenotype and a supporting mouse model \nSources: Literature",
"entity_name": "KHK",
"entity_type": "gene"
},
{
"created": "2021-02-08T16:14:16.652905+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.326",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GGT1 as ready",
"entity_name": "GGT1",
"entity_type": "gene"
},
{
"created": "2021-02-08T16:14:16.644167+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.326",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ggt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GGT1",
"entity_type": "gene"
},
{
"created": "2021-02-08T16:14:11.992019+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.326",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GGT1 as Amber List (moderate evidence)",
"entity_name": "GGT1",
"entity_type": "gene"
},
{
"created": "2021-02-08T16:14:11.987212+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.326",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Dominant form appears to be a benign metabolic condition. Currently only one recessive family reported, therefore insufficient evidence to determine clinical phenotype.",
"entity_name": "GGT1",
"entity_type": "gene"
},
{
"created": "2021-02-08T16:14:11.961816+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.326",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ggt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GGT1",
"entity_type": "gene"
},
{
"created": "2021-02-08T16:12:12.846261+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.325",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GGT1 was added\ngene: GGT1 was added to Miscellaneous Metabolic Disorders. Sources: Literature\nSV/CNV tags were added to gene: GGT1.\nMode of inheritance for gene: GGT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GGT1 were set to 31520399; 27604308; 23615310; 29483667\nPhenotypes for gene: GGT1 were set to Glutathioninuria MIM#231950; Disorders of the gamma-glutamyl cycle\nReview for gene: GGT1 was set to AMBER\nAdded comment: 2 unrelated families segregating heterozygous variants with GGTemia, with no clinical phentoype. 2 sibs with a 16.9 kb homozygous deletion with glutathionuria and mild psychomotor developmental delay and mild neurological symptoms. \nSources: Literature",
"entity_name": "GGT1",
"entity_type": "gene"
},
{
"created": "2021-02-08T15:54:12.795276+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.324",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PREPL as ready",
"entity_name": "PREPL",
"entity_type": "gene"
}
]
}