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"created": "2018-11-19T11:29:13.577460Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ALDH7A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:13.498157Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ALDH5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
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"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ALDH4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
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"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ALDH3A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
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"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ALDH1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ALDH1A3",
"entity_type": "gene"
},
{
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"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ALDH18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
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"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ALAD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:13.012494Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AKT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:12.881549Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AKT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:12.814236Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AKR1D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:12.751047Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:12.677749Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AIRE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:12.609907Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AIPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:12.542290Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:12.469286Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:12.338911Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AHI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:12.274563Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AHDC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:12.210370Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AGXT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:12.142493Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AGTR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AGTR2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:12.070946Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AGPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:11.998575Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:11.875034Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AGK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:11.805673Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:11.739577Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:11.671909Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AFF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AFF4",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:11.606261Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AFF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AFF3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:11.532900Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:11.417281Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ADSL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:11.350192Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ADRA2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADRA2B",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:11.287976Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ADNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADNP",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:11.225437Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ADK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:11.163646Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ADGRG6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:11.098324Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ADGRG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:11.031886Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:10.910389Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ADAMTS18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADAMTS18",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:10.835986Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ADA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:10.764106Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ACY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:10.691045Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ACVR2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:10.625432Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACVR1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:10.559566Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ACTL6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACTL6B",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:10.434553Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ACTG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:10.360237Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:10.288275Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:10.223594Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ACTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:10.149003Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ACSL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACSL4",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:10.076217Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ACP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACP5",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:09.952867Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ACOX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:09.884181Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ACO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:09.812083Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ACBD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:09.741736Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ACAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:09.677761Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ACAN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:09.613707Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ACADVL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:09.548940Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ACADS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:09.411675Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ACADM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:09.338695Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ACAD9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:09.271779Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:09.199424Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ABHD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:09.119319Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ABCD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:09.040204Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:08.908925Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:08.830981Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:08.760070Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ABCB7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:08.682635Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ABCB6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:08.610413Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ABCB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:08.530713Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AASS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AASS",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:07.739461Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:29:07.655063Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AAAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:26:11.011217Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "2.537",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "gene: GNB5 was added\ngene: GNB5 was added to Intellectual disability. Sources: Literature,Expert Review\nMode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNB5 were set to 27523599; 27677260; 28697420; 29368331\nPhenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182\nPenetrance for gene: GNB5 were set to Complete\nReview for gene: GNB5 was set to GREEN\ngene: GNB5 was marked as current diagnostic\nAdded comment: Biallelic GNB5 pathogenic variants cause Intellectual developmental disorder with cardiac arrhythmia (MIM 617173) or language delay and ADHD/cognitive impairment with or without cardiac arrhythmia (MIM 617182). \r\n\r\nPMID: 27523599 is the first report on the associated phenotype. A total of 9 individuals from 6 different families (from various ethnic backgrounds) are described. \r\n\r\nThe common features included hypotonia (noted in 6 out of 9 patients), intellectual disability (9/9 - in 3 cases mild, in 6 severe), heart rate disturbance (9/9 - in most cases sick sinus syndrome), seizures (4/9), ophthalmological problems (nystagmus in 6 out of 7 for whom this information was available) as well as gastric problems (5/8 with G-E reflux).\r\n\r\nThe 6 variants (summarized in table S1) included : 2 nonsense mutations, 1 synonymous (demonstrated to affect splicing and leading to retention of 25 intronic bp), 2 further splice variants (positions +1 and +3) and a missense one (S81L).\r\n\r\nNonsense mediated decay was the case for the product of the synonymous/splice variant as well as for a stopgain one.\r\n\r\nAs noted by the authors, individuals homozygous for the S81L variant had a less severe phenotype - among others - with mild degree of intellectual disability.\r\n\r\nFunctional studies included knockout of gnb5 in zebrafish, which was able to reproduce the human neurological, cardiac and ophthalmological phenotypes.\r\n\r\nAlternative causes for these phenotypes (incl. chromosomal or metabolic disorders) were ruled out.\r\n\r\nAffected individuals might benefit interventions for their heart rate disturbance as appears to be the case in the article as well as subsequent studies.\r\n\r\nPMID: 27677260 describes an extended consanguineous Saudi family with 5 individuals homozygous for the S81L variant. Common features included severe language delay, ADHD, but normal cognition in those available for evaluation. Seizures were not reported. Pathogenicity of the S81L variant is further supported by functional studies.\r\n\r\nPMID: 28697420 describes in detail 2 individuals from a large consanguineous pedigree confirmed to be homozygous for a single nucleotide deletion in GNB5. The phenotype included severe DD/ID, seizures, sinus bradycardia with frequent sinus pauses and ophthalmological problems. Sinus arrhythmia and or seizures were documented in several other relatives deceased and unavailable for testing. \r\n\r\nPMID: 28327206 reports on 2 subjects previously included in PMID: 27523599.\r\n\r\nPMID: 29368331 describes a child with severe developmental delay, nystagmus and sinus arrhythmia necessitating a pacemaker. EEG was abnormal although no frank seizures were observed. The child was compound heterozygous for a novel missense variant (R246Q) as well a 5 basepair deletion.\r\n\r\nGNB5 is included in diagnostic gene panels for intellectual disability offered by different laboratories.\r\n\r\nAs a result this gene can be considered for inclusion in this panel as green. \nSources: Literature, Expert Review",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:21:59.484335Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.19",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: PKP2 were set to ",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:14:17.749373Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "0.18",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: SCN10A were set to PMID:30177317",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:37.880047Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZSWIM6 was added\ngene: ZSWIM6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZSWIM6 were set to 25105228\nPhenotypes for gene: ZSWIM6 were set to ACROMELIC FRONTONASAL DYSOSTOSIS 603671\nMode of pathogenicity for gene: ZSWIM6 was set to Other - please provide details in the comments",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:37.453933Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZNF750 was added\ngene: ZNF750 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ZNF750 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZNF750 were set to 16751772\nPhenotypes for gene: ZNF750 were set to SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS 610227",
"entity_name": "ZNF750",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:37.094324Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZNF713 was added\ngene: ZNF713 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: ZNF713 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZNF713 were set to 25196122\nPhenotypes for gene: ZNF713 were set to AUTISM 209850\nMode of pathogenicity for gene: ZNF713 was set to Other - please provide details in the comments",
"entity_name": "ZNF713",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:36.677509Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZNF711 was added\ngene: ZNF711 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ZNF711 were set to 19377476\nPhenotypes for gene: ZNF711 were set to MENTAL RETARDATION X-LINKED ZNF711-RELATED 300803",
"entity_name": "ZNF711",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:36.261848Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZNF599 was added\ngene: ZNF599 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: ZNF599 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ZNF599 were set to NOT IN OMIM\nMode of pathogenicity for gene: ZNF599 was set to Other - please provide details in the comments",
"entity_name": "ZNF599",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:35.912529Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZNF526 was added\ngene: ZNF526 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF526 were set to 21937992\nPhenotypes for gene: ZNF526 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION\nMode of pathogenicity for gene: ZNF526 was set to Other - please provide details in the comments",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:35.504100Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZNF462 was added\ngene: ZNF462 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZNF462 were set to 28513610\nPhenotypes for gene: ZNF462 were set to Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:35.147826Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZMYND11 was added\ngene: ZMYND11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ZMYND11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZMYND11 were set to 25217958; 25281490; 27626064\nPhenotypes for gene: ZMYND11 were set to INTELLECTUAL DISABILITY",
"entity_name": "ZMYND11",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:34.686003Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZMYND10 was added\ngene: ZMYND10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZMYND10 were set to 23891471\nPhenotypes for gene: ZMYND10 were set to PRIMARY CILIARY DYSKINESIA-22 615444",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:34.259143Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZMYM6 was added\ngene: ZMYM6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: ZMYM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ZMYM6 were set to INTELLECTUAL DISABILITY",
"entity_name": "ZMYM6",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:33.643945Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 608612 for gene: ZMPSTE24\nPublications for gene ZMPSTE24 were changed from to 12913070",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:33.276429Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZMPSTE24 was added\ngene: ZMPSTE24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZMPSTE24 were set to LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED 319186",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:32.685564Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes HETEROTAXY SYNDROME 207574 for gene: ZIC3",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:32.264942Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZIC3 was added\ngene: ZIC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ZIC3 were set to VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 319683",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:31.837401Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZIC2 was added\ngene: ZIC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZIC2 were set to 11479728; 21638761; 9771712\nPhenotypes for gene: ZIC2 were set to HOLOPROSENCEPHALY 609637",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:31.491128Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZIC1 was added\ngene: ZIC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ZIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZIC1 were set to 26340333\nPhenotypes for gene: ZIC1 were set to CRANIOSYNOSTOSIS 6 616602\nMode of pathogenicity for gene: ZIC1 was set to Other - please provide details in the comments",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:31.054701Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZFYVE26 was added\ngene: ZFYVE26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZFYVE26 were set to 11342696; 19805727; 18098276; 17661097\nPhenotypes for gene: ZFYVE26 were set to SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15 270700",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:30.442861Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes TETRALOGY OF FALLOT 187500 for gene: ZFPM2",
"entity_name": "ZFPM2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:29.814030Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes DIAPHRAGMATIC HERNIA 3 610187 for gene: ZFPM2\nPublications for gene ZFPM2 were changed from 24549039 to 16103912",
"entity_name": "ZFPM2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:29.465698Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZFPM2 was added\ngene: ZFPM2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZFPM2 were set to 24549039\nPhenotypes for gene: ZFPM2 were set to 46,XY GONADAL DYSGENESIS",
"entity_name": "ZFPM2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:29.041865Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZFP57 was added\ngene: ZFP57 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZFP57 were set to 18622393\nPhenotypes for gene: ZFP57 were set to DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL 601410",
"entity_name": "ZFP57",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:28.668545Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZEB2 was added\ngene: ZEB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZEB2 were set to 16532472; 11891681; 11279515; 12451214; 11595972; 9719364; 12920073; 16088920; 11592033; 16688751\nPhenotypes for gene: ZEB2 were set to MOWAT-WILSON SYNDROME 235730",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:28.058506Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY TYPE 3 609141 for gene: ZEB1",
"entity_name": "ZEB1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:27.662464Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZEB1 was added\ngene: ZEB1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: ZEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ZEB1 were set to CORNEAL DYSTROPHY FUCHS ENDOTHELIAL TYPE 6 613270",
"entity_name": "ZEB1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:27.234102Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZDHHC9 was added\ngene: ZDHHC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ZDHHC9 were set to 17436253; 26000327\nPhenotypes for gene: ZDHHC9 were set to MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED 300799",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:26.859310Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZDHHC15 was added\ngene: ZDHHC15 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: ZDHHC15 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: ZDHHC15 were set to 15915161\nPhenotypes for gene: ZDHHC15 were set to MENTAL RETARDATION X-LINKED TYPE 91 300577",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:26.446166Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZCCHC8 was added\ngene: ZCCHC8 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: ZCCHC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZCCHC8 were set to 21937992\nPhenotypes for gene: ZCCHC8 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:25.818530Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY 314580 for gene: ZC4H2",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:25.474415Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZC4H2 was added\ngene: ZC4H2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: ZC4H2 were set to 4039531; 1915520; 23623388\nPhenotypes for gene: ZC4H2 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY 314580",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:13:25.045758Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ZBTB40 was added\ngene: ZBTB40 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: ZBTB40 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZBTB40 were set to 21937992\nPhenotypes for gene: ZBTB40 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION",
"entity_name": "ZBTB40",
"entity_type": "gene"
}
]
}