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{
"count": 221276,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1935",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1933",
"results": [
{
"created": "2020-02-07T19:07:13.362077+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PANK2 was added\ngene: PANK2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PANK2 were set to HARP syndrome; Neurodegeneration with brain iron accumulation 1",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:13.301535+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NPHP4 was added\ngene: NPHP4 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:13.242140+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NPHP3 was added\ngene: NPHP3 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:13.182186+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NPHP1 was added\ngene: NPHP1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:13.117348+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MTTP was added\ngene: MTTP was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: MTTP was set to Unknown",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:13.071151+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MKS1 was added\ngene: MKS1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:13.011833+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LRP5 was added\ngene: LRP5 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: LRP5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: LRP5 were set to Exudative vitreoretinopathy 4",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:12.952860+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LAMA1 was added\ngene: LAMA1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: LAMA1 was set to Unknown",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:12.894817+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IQCB1 was added\ngene: IQCB1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IQCB1 were set to Leber congenital amaurosis; Senior-Loken syndrome 5 (nephronophthisis and Leber congenital amaurosis)",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:12.835787+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: INVS was added\ngene: INVS was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INVS were set to Nephronophthisis 2, infantile",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:12.773043+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: INPP5E was added\ngene: INPP5E was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:12.715206+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IFT81 was added\ngene: IFT81 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: IFT81 was set to Unknown",
"entity_name": "IFT81",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:12.655710+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IFT140 was added\ngene: IFT140 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT140 were set to Retinitis pigmentosa 80",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:12.597497+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HMX1 was added\ngene: HMX1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: HMX1 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:12.531235+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HGSNAT was added\ngene: HGSNAT was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HGSNAT were set to Retinitis pigmentosa 73",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:12.485821+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HARS was added\ngene: HARS was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HARS were set to Usher syndrome type 3B",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:12.425487+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GNPTG was added\ngene: GNPTG was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPTG were set to Mucolipidosis III gamma; Genetic Retinal Degeneration Conditions",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:12.368126+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FLVCR1 was added\ngene: FLVCR1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, 609033",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:12.309806+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EXOSC2 was added\ngene: EXOSC2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: EXOSC2 was set to Unknown",
"entity_name": "EXOSC2",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:12.251450+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ELOVL4 was added\ngene: ELOVL4 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ELOVL4 were set to Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110; Stargardt disease 3, 600110; Ichthyosis, spastic quadriplegia, and mental retardation, 614457",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:12.194413+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CSPP1 was added\ngene: CSPP1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CSPP1 were set to Genetic Retinal Degeneration Conditions; Joubert syndrome 21",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:12.129790+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COL9A1 was added\ngene: COL9A1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL9A1 were set to Stickler syndrome, type IV",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:12.071945+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLN3 was added\ngene: CLN3 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN3 were set to Juvenile neuronal ceroid lipofuscinosis; Retinitis pigmentosa",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:12.006509+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CEP290 was added\ngene: CEP290 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP290 were set to Meckel syndrome 4, 611134; Senior-Loken syndrome 6, 610189; Bardet-Biedl syndrome 14, 209900; Leber congenital amaurosis 10, 611755; Joubert syndrome 5, 610188",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:11.946345+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CEP164 was added\ngene: CEP164 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:11.889362+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CC2D2A was added\ngene: CC2D2A was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CC2D2A were set to Joubert syndrome 9; Meckel syndrome 6; COACH syndrome",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:11.842051+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALMS1 was added\ngene: ALMS1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALMS1 were set to Alstrom syndrome",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:11.780078+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AHI1 was added\ngene: AHI1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AHI1 were set to Joubert syndrome 17",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:11.722788+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADIPOR1 was added\ngene: ADIPOR1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: ADIPOR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ADIPOR1 were set to syndromic retinitis pigmentosa; non-syndromic autosomal dominant retinitis pigmentosa",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:11.666922+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADAMTS18 was added\ngene: ADAMTS18 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: ADAMTS18 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTS18 were set to Microcornea, myopic chorioretinal atrophy, and telecanthus; Genetic Retinal Degeneration Conditions",
"entity_name": "ADAMTS18",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:11.607552+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACO2 was added\ngene: ACO2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration, 614559",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:11.552306+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACBD5 was added\ngene: ACBD5 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: ACBD5 was set to Unknown",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:11.495163+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABHD12 was added\ngene: ABHD12 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABHD12 were set to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:11.438732+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VCAN was added\ngene: VCAN was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: VCAN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: VCAN were set to Wagner Syndrome",
"entity_name": "VCAN",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:11.380283+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TREX1 was added\ngene: TREX1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: TREX1 was set to Unknown",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:11.319768+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PAX2 was added\ngene: PAX2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: PAX2 was set to Unknown",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:11.277186+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OPA3 was added\ngene: OPA3 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: OPA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: OPA3 were set to Autosomal Dominant Optic Atrophy",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:11.220890+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MFN2 was added\ngene: MFN2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: MFN2 was set to Unknown",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:11.147860+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KIF11 was added\ngene: KIF11 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KIF11 were set to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM#152950",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:11.085223+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNJ13 was added\ngene: KCNJ13 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: KCNJ13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ13 were set to Leber congenital amaurosis 16, 614186; Snowflake vitreoretinal degeneration, 193230",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:11.028320+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: JAG1 was added\ngene: JAG1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: JAG1 was set to Unknown",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:10.972871+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COL2A1 was added\ngene: COL2A1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL2A1 were set to Stickler syndrome, type I",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:10.917945+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COL11A1 was added\ngene: COL11A1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL11A1 were set to Stickler syndrome, type II, MIM#604841",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:10.863312+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATXN7 was added\ngene: ATXN7 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: ATXN7 was set to Unknown",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:10.808733+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AFG3L2 was added\ngene: AFG3L2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: AFG3L2 was set to Unknown",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:10.750569+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCC6 was added\ngene: ABCC6 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: ABCC6 was set to Unknown",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-02-07T19:07:10.724883+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Syndromic Retinopathy",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-07T18:41:57.713628+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INSR as ready",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2020-02-07T18:41:57.708911+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: insr has been classified as Red List (Low Evidence).",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2020-02-07T18:41:16.995083+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INSR were changed from to Leprechaunism, MIM# 246200; Rabson-Mendenhall syndrome, MIM# 262190",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2020-02-07T18:40:37.039654+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2042",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2020-02-07T18:39:59.461515+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: INSR as Red List (low evidence)",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2020-02-07T18:39:59.456559+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: insr has been classified as Red List (Low Evidence).",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2020-02-07T18:39:18.133203+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: INSR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leprechaunism, MIM# 246200, Rabson-Mendenhall syndrome, MIM# 262190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:34:23.451815+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC9 as ready",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:34:23.446860+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc9 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:34:05.568475+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC9 were changed from to Intellectual disability, autosomal recessive 13 (MIM# 613192)",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:33:31.423841+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC9 were set to ",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:33:01.887594+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAPPC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:30:59.743326+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKD2 were changed from Polycystic kidney disease 2, MIM#613095 AD to Polycystic kidney disease 2, MIM#613095 AD",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:30:56.479818+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKD2 as ready",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:30:56.473140+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkd2 has been classified as Green List (High Evidence).",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:30:07.902289+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKD2 were changed from to Polycystic kidney disease 2, MIM#613095 AD",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:29:15.672864+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:27:54.705335+11:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN5A as ready",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:27:54.699609+11:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn5a has been classified as Green List (High Evidence).",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:27:40.451858+11:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN5A were changed from to Atrial fibrillation, familial, 10; Brugada syndrome 1; Cardiomyopathy, dilated, 1E; Heart block, nonprogressive; Heart block, progressive, type IA; Long QT syndrome 3; Sick sinus syndrome 1; Ventricular fibrillation, familial, 1; {Sudden infant death syndrome, susceptibility to}",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:27:15.717176+11:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN5A were set to ",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:26:49.190511+11:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SCN5A was changed from to Other",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:26:24.458242+11:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:23:05.120729+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCO2 as ready",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:23:05.115186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sco2 has been classified as Green List (High Evidence).",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:22:52.888616+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCO2 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6; Charcot-Marie-Tooth type 4; Cerebellar ataxia and progressive peripheral axonal neuropthy",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:22:16.295870+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCO2 were set to ",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:22:01.880012+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCO2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:16:14.363938+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IDUA as ready",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:16:14.355774+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: idua has been classified as Green List (High Evidence).",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:15:45.532077+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IDUA were changed from to Mucopolysaccharidosis Ih (MIM#607014); Mucopolysaccharidosis Ih/s (MIM#607015); Mucopolysaccharidosis Is (MIM#6070)",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:14:15.856575+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IDUA were set to ",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:14:01.508159+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IDUA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:13:05.556568+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AHI1 as ready",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:13:05.551448+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahi1 has been classified as Green List (High Evidence).",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:12:47.365800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AHI1 were changed from to Joubert syndrome 3, MIM#608629",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:12:20.371733+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AHI1 were set to ",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:12:07.395698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AHI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:10:28.137769+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGM5 as ready",
"entity_name": "TGM5",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:10:28.132409+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgm5 has been classified as Green List (High Evidence).",
"entity_name": "TGM5",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:10:23.338939+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGM5 were changed from to Peeling skin syndrome 2, MIM# 609796",
"entity_name": "TGM5",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:09:04.647775+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGM5 were set to ",
"entity_name": "TGM5",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:08:30.693635+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TGM5",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:07:29.346321+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 16380904; Phenotypes: Peeling skin syndrome 2, MIM# 609796; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TGM5",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:06:22.972609+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGM5 as ready",
"entity_name": "TGM5",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:06:22.967677+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgm5 has been classified as Green List (High Evidence).",
"entity_name": "TGM5",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:06:10.608509+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGM5 were changed from to Peeling skin syndrome 2, MIM#\t609796",
"entity_name": "TGM5",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:04:50.203965+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGM5 were set to ",
"entity_name": "TGM5",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:04:26.491237+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TGM5",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:03:44.453306+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLEC as ready",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:03:44.448039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plec has been classified as Green List (High Evidence).",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:03:34.462962+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLEC were changed from to ?Epidermolysis bullosa simplex with nail dystrophy, MIM#\t616487; Epidermolysis bullosa simplex with muscular dystrophy, MIM#\t226670; Epidermolysis bullosa simplex with pyloric atresia, MIM#\t612138; Epidermolysis bullosa simplex, Ogna type\tMIM#131950; Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM#\t613723",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2020-02-07T17:02:14.282158+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.19",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: PKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11854751; Phenotypes: Polycystic kidney disease 2 (613095 AD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PKD2",
"entity_type": "gene"
}
]
}