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"count": 221304,
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{
"created": "2020-07-21T13:15:58.568698+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: KIF7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:15:37.375326+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: KIAA0586: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:14:54.095177+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: IQCE: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IQCE",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:14:27.661302+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: INPP5E: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:14:12.659655+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: IFT80: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT80",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:14:00.393510+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: IFT52: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:13:40.723733+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: IFT43: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:13:27.554479+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: IFT27: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:13:12.956622+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: IFT172: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:12:57.535489+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: IFT140: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:12:40.324056+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: ICK: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:12:14.754038+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: HYLS1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:11:48.066384+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: HOXA13: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOXA13",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:11:33.115286+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: HNRNPK: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:11:10.521741+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: GRIP1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:10:47.290513+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: GPC3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:10:19.292703+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: GLI3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:10:05.512220+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: GLI2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:09:24.707065+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: GDF5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:08:35.921640+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: FREM2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:08:22.257909+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: FRAS1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:05:36.446441+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: FGFR3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:05:04.786730+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: FGFR2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:04:31.091573+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: FGFR1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:04:05.267240+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: FGF10: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:03:48.727099+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: EVC2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:03:21.492490+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: EVC: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:02:39.003949+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: EBP: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:00:53.408155+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: DYNC2LI1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:00:36.755517+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: DYNC2H1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2020-07-21T13:00:21.544670+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: DDX59: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:59:59.601900+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: CSPP1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:59:40.607902+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: CKAP2L: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:59:14.487791+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: CEP41: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:58:51.876983+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: CEP290: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:58:24.927567+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: CEP164: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:57:58.513023+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: CEP120: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:57:25.647681+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: CENPF: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:57:03.852406+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: CCND2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:56:29.815030+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: CC2D2A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:55:53.220355+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: C5orf42: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:55:35.916814+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: C2CD3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:53:43.718982+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: BMP4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:53:10.618551+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: BHLHA9: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BHLHA9",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:52:33.101516+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: BBS9: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:51:51.691253+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: BBS7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:51:17.720813+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: BBS5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:51:00.442107+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: BBS4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:50:36.756124+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: BBS2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:50:11.150040+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: BBS12: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:49:56.697975+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: BBS10: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:49:37.060167+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: BBS1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:49:12.119452+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: B9D2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:48:30.097434+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: ARL6: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:47:25.546272+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: AKT3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-07-21T12:47:01.071719+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Anand Vasudevan",
"item_type": "entity",
"text": "reviewed gene: AHI1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2020-07-21T11:55:02.539808+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN1 as ready",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2020-07-21T11:55:02.511712+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn1 has been classified as Green List (High Evidence).",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2020-07-21T11:55:00.225044+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLCN1 were changed from to Myotonia congenita, dominant, MIM#\t160800; Myotonia congenita, recessive, MIM#\t255700",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2020-07-21T10:31:36.331357+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.29",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: CLCN1 as Green List (high evidence)",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2020-07-21T10:31:36.321718+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.29",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: clcn1 has been classified as Green List (High Evidence).",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2020-07-21T10:30:05.591618+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.28",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: CLCN1 was added\ngene: CLCN1 was added to Paroxysmal Dyskinesia. Sources: Expert Review\nMode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded comment: Mono- and biallelic variants cause mytonia congenita, which is an important differential diagnosis to other movement disorder presentations \nSources: Expert Review",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:27:14.454486+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSDHL as ready",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:27:14.441051+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsdhl has been classified as Green List (High Evidence).",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:27:11.963054+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NSDHL were changed from to CK syndrome (MIM#300831)",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:26:49.488843+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NSDHL were set to ",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:26:23.534047+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NSDHL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:25:47.980317+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSDHL as ready",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:25:47.963299+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsdhl has been classified as Green List (High Evidence).",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:25:42.935181+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NSDHL were changed from to CK syndrome (MIM#300831)",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:25:18.478829+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NSDHL were set to ",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:24:54.134266+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NSDHL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:21:19.259433+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR0B1 as ready",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:21:19.254226+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Note 46XY reversal disorder is only associated with duplications.",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:21:19.218676+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr0b1 has been classified as Green List (High Evidence).",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:20:53.155766+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR0B1 were changed from Adrenal hypoplasia, congenital (MIM# 300200) to Adrenal hypoplasia, congenital (MIM# 300200); 46XY sex reversal 2, dosage-sensitive, MIM#\t300018",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:20:13.460117+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NR0B1 as Green List (high evidence)",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:20:13.452930+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr0b1 has been classified as Green List (High Evidence).",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:19:57.221245+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NR0B1 as Amber List (moderate evidence)",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:19:57.214626+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr0b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:19:43.013209+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: NR0B1.",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:18:54.491071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR0B1 as ready",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:18:54.480297+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr0b1 has been classified as Green List (High Evidence).",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:18:48.472307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR0B1 were changed from to Adrenal hypoplasia, congenital (MIM# 300200)",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:18:33.637766+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR0B1 were set to ",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:18:16.865314+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NR0B1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:17:39.304988+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSDHL as ready",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:17:39.291703+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsdhl has been classified as Green List (High Evidence).",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:17:33.508667+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NSDHL were changed from to CHILD syndrome (MMIM#308050)",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:17:16.959248+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NSDHL were set to ",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:16:59.670830+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NSDHL was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:13:37.150126+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TFR2 as ready",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:13:37.143205+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfr2 has been classified as Green List (High Evidence).",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:13:21.821133+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TFR2 were changed from to Haemochromatosis, type 3 (MIM#604250)",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:12:59.829690+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TFR2 were set to ",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:12:34.873666+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TFR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:12:01.511879+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24847265, 29743178; Phenotypes: Haemochromatosis, type 3 (MIM#604250); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:11:07.871799+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TFR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:10:19.941398+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TFR2 as ready",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:10:19.930372+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfr2 has been classified as Green List (High Evidence).",
"entity_name": "TFR2",
"entity_type": "gene"
}
]
}