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{
"count": 220817,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1977",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1975",
"results": [
{
"created": "2020-01-17T16:45:32.811642+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:45:25.417155+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTNND2 were changed from to Intellectual disability; Autism; Epilepsy",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:45:07.537637+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTNND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25839933, 29127138, 25807484; Phenotypes: Intellectual disability, Autism, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:44:50.622212+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTNND2 were set to ",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:44:22.775016+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTNND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:43:11.033515+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTNND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25839933, 29127138, 25807484; Phenotypes: Intellectual disability, Autism, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:41:55.575362+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADCY8 as ready",
"entity_name": "ADCY8",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:41:55.569941+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Cannot find evidence for Mendelian gene-disease association.",
"entity_name": "ADCY8",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:41:55.528021+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adcy8 has been classified as Red List (Low Evidence).",
"entity_name": "ADCY8",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:41:50.952070+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTNND2 as ready",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:41:50.940643+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:41:40.492840+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTNND2 were changed from Intellectual disability; Autism; Epilepsy to Intellectual disability; Autism; Epilepsy",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:41:32.380947+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADCY8 as Red List (low evidence)",
"entity_name": "ADCY8",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:41:32.367901+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adcy8 has been classified as Red List (Low Evidence).",
"entity_name": "ADCY8",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:41:08.071897+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTNND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:40:34.634206+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTNND2 were changed from to Intellectual disability; Autism; Epilepsy",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:40:09.121069+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.8",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: CNOT1 as ready",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:40:08.473468+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.8",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cnot1 has been classified as Green List (High Evidence).",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:40:05.287157+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTNND2 were set to ",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:39:54.453727+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.8",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CNOT1 as Green List (high evidence)",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:39:54.440526+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.8",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cnot1 has been classified as Green List (High Evidence).",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:39:19.657075+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTNND2 as Amber List (moderate evidence)",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:39:18.974011+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:38:31.164645+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTNND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25839933, 29127138, 25807484; Phenotypes: Intellectual disability, Autism, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:29:17.976884+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.7",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: CNOT1 was added\ngene: CNOT1 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature\nMode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CNOT1 were set to PMID: 31006513\nPhenotypes for gene: CNOT1 were set to HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS; HPE12; OMIM# 618500\nReview for gene: CNOT1 was set to GREEN\ngene: CNOT1 was marked as current diagnostic\nAdded comment: Three unrelated individuals reported. Functional studies in mouse \nSources: Literature",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:26:56.641237+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-17T16:21:32.933249+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.838",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: CNOT1 as ready",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:21:32.921565+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.838",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cnot1 has been classified as Green List (High Evidence).",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:21:24.088462+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.838",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CNOT1 as Green List (high evidence)",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:21:24.076921+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.838",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cnot1 has been classified as Green List (High Evidence).",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:21:02.105133+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.837",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: CNOT1 was added\ngene: CNOT1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CNOT1 were set to PMID: 31006513\nPhenotypes for gene: CNOT1 were set to Holoprosencephaly 12, with or without pancreatic agenesis; OMIM# 618500\nReview for gene: CNOT1 was set to GREEN\ngene: CNOT1 was marked as current diagnostic\nAdded comment: Reported in 3 unrelated individuals \nSources: Literature",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-01-17T15:55:28.379352+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IQSEC1 as ready",
"entity_name": "IQSEC1",
"entity_type": "gene"
},
{
"created": "2020-01-17T15:55:28.367606+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqsec1 has been classified as Green List (High Evidence).",
"entity_name": "IQSEC1",
"entity_type": "gene"
},
{
"created": "2020-01-17T15:55:19.295121+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IQSEC1 as Green List (high evidence)",
"entity_name": "IQSEC1",
"entity_type": "gene"
},
{
"created": "2020-01-17T15:55:19.283637+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqsec1 has been classified as Green List (High Evidence).",
"entity_name": "IQSEC1",
"entity_type": "gene"
},
{
"created": "2020-01-17T15:55:02.474991+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IQSEC1 was added\ngene: IQSEC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IQSEC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IQSEC1 were set to 31607425\nPhenotypes for gene: IQSEC1 were set to Intellectual developmental disorder with short stature and behavioral abnormalities, MIM#\t618687\nReview for gene: IQSEC1 was set to GREEN\nAdded comment: Five individuals from two unrelated families reported, animal model data. \nSources: Literature",
"entity_name": "IQSEC1",
"entity_type": "gene"
},
{
"created": "2020-01-17T15:54:51.603618+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IQSEC1 as ready",
"entity_name": "IQSEC1",
"entity_type": "gene"
},
{
"created": "2020-01-17T15:54:51.592389+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqsec1 has been classified as Green List (High Evidence).",
"entity_name": "IQSEC1",
"entity_type": "gene"
},
{
"created": "2020-01-17T15:54:27.038545+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IQSEC1 as Green List (high evidence)",
"entity_name": "IQSEC1",
"entity_type": "gene"
},
{
"created": "2020-01-17T15:54:27.026921+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqsec1 has been classified as Green List (High Evidence).",
"entity_name": "IQSEC1",
"entity_type": "gene"
},
{
"created": "2020-01-17T15:53:19.467950+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IQSEC1 was added\ngene: IQSEC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: IQSEC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IQSEC1 were set to 31607425\nPhenotypes for gene: IQSEC1 were set to Intellectual developmental disorder with short stature and behavioral abnormalities, MIM#\t618687\nReview for gene: IQSEC1 was set to GREEN\nAdded comment: Five individuals from two unrelated families reported, animal model data. \nSources: Literature",
"entity_name": "IQSEC1",
"entity_type": "gene"
},
{
"created": "2020-01-17T15:00:48.962887+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Hereditary Haemorrhagic Telangiectasia_RMH to Hereditary Haemorrhagic Telangiectasia\nPanel types changed to Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-17T14:56:38.417544+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ11 as ready",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:56:38.404957+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj11 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:52:24.615768+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACAN as ready",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:52:24.604234+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acan has been classified as Green List (High Evidence).",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:52:12.563143+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACAN as Green List (high evidence)",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:52:12.551284+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acan has been classified as Green List (High Evidence).",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:51:53.502480+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACAN was added\ngene: ACAN was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ACAN were set to Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM#\t165800; Spondyloepimetaphyseal dysplasia, aggrecan type\t612813\nReview for gene: ACAN was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:34:29.547942+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NKX2-2 as ready",
"entity_name": "NKX2-2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:34:29.536507+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkx2-2 has been classified as Green List (High Evidence).",
"entity_name": "NKX2-2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:34:12.000578+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NKX2-2 as Green List (high evidence)",
"entity_name": "NKX2-2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:34:11.988186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkx2-2 has been classified as Green List (High Evidence).",
"entity_name": "NKX2-2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:33:53.890187+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKX2-2 was added\ngene: NKX2-2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: NKX2-2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NKX2-2 were set to 24411943; 9584121\nPhenotypes for gene: NKX2-2 were set to Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment\nReview for gene: NKX2-2 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "NKX2-2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:31:38.425741+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NKX2-2 as ready",
"entity_name": "NKX2-2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:31:38.420317+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Mouse model also supports gene-disease association.",
"entity_name": "NKX2-2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:31:38.390865+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkx2-2 has been classified as Green List (High Evidence).",
"entity_name": "NKX2-2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:31:30.514666+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NKX2-2 were set to 24411943",
"entity_name": "NKX2-2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:30:39.984090+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NKX2-2 were changed from to Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment",
"entity_name": "NKX2-2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:30:26.405601+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NKX2-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24411943; Phenotypes: Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NKX2-2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:23:18.985760+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Monogenic diabetes to Monogenic Diabetes\nPanel types changed to Rare Disease; Victorian Clinical Genetics Services",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-17T14:20:18.549933+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZMPSTE24 was added\ngene: ZMPSTE24 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZMPSTE24 were set to 12913070; 15317753; 20034068; 16297189; 18435794\nPhenotypes for gene: ZMPSTE24 were set to Mandibuloacral dysplasia with type B lipodystrophy, 608612",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:18.475069+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZFP57 was added\ngene: ZFP57 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZFP57 were set to Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes; Transient Neonatal Diabetes, Recessive",
"entity_name": "ZFP57",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:18.392330+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZBTB20 was added\ngene: ZBTB20 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZBTB20 were set to 20644156; 25017102\nPhenotypes for gene: ZBTB20 were set to Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications); Primrose syndrome, 259050",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:18.307572+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WFS1 was added\ngene: WFS1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: WFS1 were set to 27185633; 27217304\nPhenotypes for gene: WFS1 were set to Wolfram-like syndrome, autosomal dominant, 614296; Wolfram syndrome, 222300; Deafness, autosomal dominant 6/14/38, 600965; ?Cataract 41,116400; {Diabetes mellitus, noninsulin-dependent, association with}, 125853; Deafness,autosomal dominant 6/14/38, 600965; {Diabetes mellitus, noninsulin-dependent,association with}; diabetes insipidus or optic atrophy",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:18.221730+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRMT10A was added\ngene: TRMT10A was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRMT10A were set to 26297882; 24204302\nPhenotypes for gene: TRMT10A were set to Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:18.140104+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TFR2 was added\ngene: TFR2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TFR2 were set to Hemochromatosis, type 3 604250",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:18.053829+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STAT3 was added\ngene: STAT3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green\nMode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: STAT3 were set to 25038750; 27167055\nMode of pathogenicity for gene: STAT3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:17.969077+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STAT1 was added\ngene: STAT1 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Red\nMode of inheritance for gene: STAT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: STAT1 were set to 23534974\nMode of pathogenicity for gene: STAT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:17.891800+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC40A1 was added\ngene: SLC40A1 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC40A1 were set to Hemochromatosis, type 4 606069",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:17.812696+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC2A2 was added\ngene: SLC2A2 was added to Monogenic diabetes. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN\nMode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC2A2 were set to PMID: 23456528; 22831748; 22660720\nPhenotypes for gene: SLC2A2 were set to {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:17.719712+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC29A3 was added\ngene: SLC29A3 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC29A3 were set to 19336477\nPhenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome,602782; Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome; H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes)",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:17.635312+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC19A2 was added\ngene: SLC19A2 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green\nMode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC19A2 were set to 26549656; 26839896\nPhenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:17.557091+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RFX6 was added\ngene: RFX6 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RFX6 were set to 27167055; 27185633; 26770845; 26761945; 26264437; 26559129; 25048417\nPhenotypes for gene: RFX6 were set to Mitchell-Riley syndrome, 615710; Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; recessive syndromic diabetes and autosomal dominant MODY",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:17.476379+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTF1A was added\ngene: PTF1A was added to Monogenic diabetes. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN\nMode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTF1A were set to Permanent neonatal diabetes mellitus (PNDM); Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:17.384684+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPP1R15B was added\ngene: PPP1R15B was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PPP1R15B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPP1R15B were set to Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:17.301130+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPARG was added\ngene: PPARG was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PPARG were set to Insulin resistance, severe, digenic; FPLD3; Obesity, severe, 601665; {Diabetes, type 2}, 125853; Lipodystrophy, familial partial, type 3; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Insulin resistance, severe, digenic 604367; [Obesity, resistance to]; Lipodystrophy, familial partial, type 3, 604367; Insulin resistance, severe, digenic, 604367; Lipodystrophy, familial partial, type 3 604367; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; Carotid intimal medial thickness 1, 609338",
"entity_name": "PPARG",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:17.220497+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLD1 was added\ngene: POLD1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLD1 were set to 23770608\nPhenotypes for gene: POLD1 were set to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381; multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males\nMode of pathogenicity for gene: POLD1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:17.135495+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLIN1 was added\ngene: PLIN1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PLIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLIN1 were set to 11371650; 21345103; 25695774; 30020498\nPhenotypes for gene: PLIN1 were set to Lipodystrophy, familial partial, type 4, 613877; partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Severe insulin resistance, partial lipodystrophy and diabetes",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:17.050073+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3R1 was added\ngene: PIK3R1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PIK3R1 were set to 23810378\nPhenotypes for gene: PIK3R1 were set to Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880; SHORT syndrome\nMode of pathogenicity for gene: PIK3R1 was set to Other - please provide details in the comments",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:16.970537+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDX1 was added\ngene: PDX1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDX1 were set to Permanent neonatal diabetes; Maturity-Onset Diabetes Of The Young; Maturity-onset diabetes of the young (MODY); MODY type IV; Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392; MODY4; Pancreatic agenesis 1; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:16.888965+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCBD1 was added\ngene: PCBD1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCBD1 were set to 24204001; 24848070\nPhenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D, 264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:16.808949+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAX6 was added\ngene: PAX6 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PAX6 were set to Aniridia 106210; diabetes",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:16.730318+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAX4 was added\ngene: PAX4 was added to Monogenic diabetes. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: PAX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PAX4 were set to Maturity-onset diabetes of the young, type IX, 612225; Maturity Onset Diabetes of the Young",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:16.651271+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKX2-2 was added\ngene: NKX2-2 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green\nMode of inheritance for gene: NKX2-2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NKX2-2 were set to 24411943",
"entity_name": "NKX2-2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:16.576303+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEUROG3 was added\ngene: NEUROG3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green\nMode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEUROG3 were set to 25650326; 26288179",
"entity_name": "NEUROG3",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:16.499642+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEUROD1 was added\ngene: NEUROD1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: NEUROD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: NEUROD1 were set to 20573748; 10545951; 26773576; 26669242\nPhenotypes for gene: NEUROD1 were set to MODY6; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity Onset Diabetes of the Young; Maturity-onset diabetes of the young 6, 606394; Permanent neonatal diabetes and cerebellar agenesis",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:16.422820+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MNX1 was added\ngene: MNX1 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green\nMode of inheritance for gene: MNX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MNX1 were set to 24411943; 23562494; 26534984",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:16.341404+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRBA was added\ngene: LRBA was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRBA were set to 25468195; 25479458; 26206937; 26745254; 27057999\nPhenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:16.259883+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMNA was added\ngene: LMNA was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LMNA were set to 24002959; 26775134\nPhenotypes for gene: LMNA were set to Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules; Severe insulin resistance, partial lipodystrophy and diabetes; FPLD2; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Lipodystrophy, familial partial, 2, 151660",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:16.174813+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIPC was added\ngene: LIPC was added to Monogenic diabetes. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: LIPC was set to Unknown\nPhenotypes for gene: LIPC were set to {Diabetes mellitus, noninsulin-dependent}, 125853; [High density lipoprotein cholesterol level QTL 12], 612797; Hepatic lipase deficiency, 614025",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:16.084320+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLF11 was added\ngene: KLF11 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Red\nMode of inheritance for gene: KLF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KLF11 were set to Maturity-onset diabetes of the young, type VII, 610508; Maturity Onset Diabetes of the Young",
"entity_name": "KLF11",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:16.001780+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ11 was added\ngene: KCNJ11 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: KCNJ11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582; {Diabetes mellitus, type 2, susceptibility to}, 125853; Transient Neonatal Diabetes, Dominant; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Transient Neonatal, 3; Maturity Onset Diabetes of the Young (Dominant); Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes Mellitus, Permanent Neonatal; Diabetes mellitus, trans; Diabetes Mellitus, Transient Neonatal, 3; Diabetes mellitus, transient neonatal, 3, 610582; Maturity Onset Diabetes of the Young; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Transient Neonatal diabetes mellitus (Dominant)\nMode of pathogenicity for gene: KCNJ11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:15.918936+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INSR was added\ngene: INSR was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: INSR were set to 8288049\nPhenotypes for gene: INSR were set to Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Hyperinsulinemic hypoglycemia, familial, 5, 609968; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; Leprechaunism, 246200; OMIM 610549; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Rabson-Mendenhall syndrome, 262190",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:15.818479+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INS was added\ngene: INS was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: INS were set to Diabetes mellitus, insulin-dependent, 2, 125852; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Diabetes mellitus, type 1, 125852; Maturity-onset diabetes of the young, type 10, 613370; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, permanent neonatal, 606176; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young (Dominant); MODY10; Maturity Onset Diabetes of the Young; Permanent Neonatal diabetes mellitus",
"entity_name": "INS",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:15.732035+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL2RA was added\ngene: IL2RA was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green,NHS GMS\nMode of inheritance for gene: IL2RA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL2RA were set to 17196245\nPhenotypes for gene: IL2RA were set to Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942; insulin-dependent diabetes mellitus at 8-weeks; IPEX-like syndrome; neonatal diabetes",
"entity_name": "IL2RA",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:15.641701+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IER3IP1 was added\ngene: IER3IP1 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green\nMode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IER3IP1 were set to 22991235; 24138066; 21835305\nPhenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:15.558679+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNF4A was added\ngene: HNF4A was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNF4A were set to 28242437\nPhenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026; Maturity-Onset Diabetes Of The Young, Type 1; MODY1, 125850; {Diabetes mellitus, noninsulin-dependent}, 125853",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:15.472067+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNF1B was added\ngene: HNF1B was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HNF1B were set to RENAL CYSTS AND DIABETES SYNDROME; Maturity-Onset Diabetes Of The Young; renal malformation; Diabetes mellitus, noninsulin-dependent, 125853; Renal Cysts and Diabetes Syndrome; Renal cysts and diabetes syndrome, 137920; Transient neonatal diabetes; RCAD; {Renal cell carcinoma}, 144700",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:15.393142+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNF1A was added\ngene: HNF1A was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HNF1A were set to MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; Maturity-Onset Diabetes Of The Young; MODY, type III, 600496; Maturity-onset diabetes of the young (MODY); MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520; {Diabetes mellitus, noninsulin-dependent, 2}, 125853; Diabetes mellitus, insulin-dependent, 20, 612520; {Diabetes mellitus, insulin-dependent}, 222100; Maturity Onset Diabetes of the Young; MODY3",
"entity_name": "HNF1A",
"entity_type": "gene"
}
]
}