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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2057",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2055",
"results": [
{
"created": "2019-12-09T10:30:33.781799+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomk has been classified as Green List (High Evidence).",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:30:01.448585+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMK were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:29:35.666138+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:29:22.865677+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:25:15.185446+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POC1A as ready",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:25:15.177857+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poc1a has been classified as Red List (Low Evidence).",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:25:04.911685+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POC1A were changed from to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:24:53.071609+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POC1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:24:42.125946+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POC1A as Red List (low evidence)",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:24:42.118552+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poc1a has been classified as Red List (Low Evidence).",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:24:29.943400+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POC1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:17:20.285561+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPT1 as ready",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:17:20.278031+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpt1 has been classified as Green List (High Evidence).",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:17:12.948989+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPT1 were changed from to Combined oxidative phosphorylation deficiency 13, MIM#614932",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:16:54.486150+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:16:36.159714+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 13, MIM#614932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:12:05.138882+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNP as ready",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:12:05.131326+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnp has been classified as Green List (High Evidence).",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:12:00.518962+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNP were changed from to Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM#613179",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:11:28.626915+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2019-12-09T10:11:05.972500+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PNP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM#613179; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:56:22.041262+11:00",
"panel_name": "Aortopathy, Connective tissue disorder_VCGS",
"panel_id": 44,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLOD3 was added\ngene: PLOD3 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Literature\nMode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLOD3 were set to 18834968; 31129566; 30237576; 30463024\nPhenotypes for gene: PLOD3 were set to Lysyl hydroxylase 3 deficiency, MIM#612394\nReview for gene: PLOD3 was set to GREEN\nAdded comment: At least three families reported with bi-allelic variants in this gene and a connective tissue phenotype; another in a large study reporting multiple emerging genes in consanguineous families. \nSources: Literature",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:56:05.976790+11:00",
"panel_name": "Aortopathy, Connective tissue disorder_VCGS",
"panel_id": 44,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLOD3 was added\ngene: PLOD3 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Literature\nMode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLOD3 were set to 18834968; 31129566; 30237576; 30463024\nPhenotypes for gene: PLOD3 were set to Lysyl hydroxylase 3 deficiency, MIM#612394\nReview for gene: PLOD3 was set to GREEN\nAdded comment: At least three families reported with bi-allelic variants in this gene and a connective tissue phenotype; another in a large study reporting multiple emerging genes in consanguineous families. \nSources: Literature",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:54:52.739104+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLOD3 were set to 18834968; 31129566",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:42:07.987107+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLOD3 as ready",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:42:07.983885+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Two other reports identified, one of connective tissue/EB phenotype and the other in a large study reporting multiple emerging genes in consanguineous families",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:42:07.964886+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plod3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:35:12.949574+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLOD3 were changed from to Lysyl hydroxylase 3 deficiency, MIM#612394",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:35:03.122814+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLOD3 were set to ",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:34:52.279569+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLOD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:34:45.944030+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLOD3 as Amber List (moderate evidence)",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:34:45.935326+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plod3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:34:33.428074+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLOD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 18834968, 31129566; Phenotypes: Lysyl hydroxylase 3 deficiency, MIM#612394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:22:25.662314+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIP5K1B as ready",
"entity_name": "PIP5K1B",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:22:25.652134+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pip5k1b has been classified as Red List (Low Evidence).",
"entity_name": "PIP5K1B",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:22:19.704027+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIP5K1B as Red List (low evidence)",
"entity_name": "PIP5K1B",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:22:19.696568+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pip5k1b has been classified as Red List (Low Evidence).",
"entity_name": "PIP5K1B",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:22:07.358126+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIP5K1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PIP5K1B",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:19:26.088375+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PINK1 as ready",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:19:26.081266+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pink1 has been classified as Red List (Low Evidence).",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:19:22.280203+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PINK1 were changed from to Parkinson disease 6, early onset, MIM#605909",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:19:09.283221+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PINK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:19:02.994299+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PINK1 as Red List (low evidence)",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:19:02.987138+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pink1 has been classified as Red List (Low Evidence).",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:18:49.076242+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PINK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease 6, early onset, MIM#605909; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:16:55.279922+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3R1 as ready",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:16:55.271456+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r1 has been classified as Red List (Low Evidence).",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:16:51.166219+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3R1 were changed from to SHORT syndrome, MIM#269880",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:16:40.336539+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIK3R1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:16:37.209806+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIK3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:16:26.527421+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3R1 as Red List (low evidence)",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:16:26.519498+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r1 has been classified as Red List (Low Evidence).",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2019-12-09T09:16:14.194059+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIK3R1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: SHORT syndrome, MIM#269880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2019-12-09T07:54:55.758250+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHKG2 as Red List (low evidence)",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2019-12-09T07:54:55.751295+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phkg2 has been classified as Red List (Low Evidence).",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2019-12-09T07:53:29.992110+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHKG2 as ready",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2019-12-09T07:53:29.985142+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phkg2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2019-12-09T07:53:25.926799+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHKG2 were changed from to Glycogen storage disease IXc, MIM#613027",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2019-12-09T07:53:13.597057+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHKG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2019-12-09T07:53:05.975131+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHKG2 as Amber List (moderate evidence)",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2019-12-09T07:53:05.967439+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phkg2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2019-12-09T07:52:53.995563+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PHKG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IXc, MIM#613027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2019-12-09T07:50:30.842391+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHKA2 as ready",
"entity_name": "PHKA2",
"entity_type": "gene"
},
{
"created": "2019-12-09T07:50:30.834827+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phka2 has been classified as Red List (Low Evidence).",
"entity_name": "PHKA2",
"entity_type": "gene"
},
{
"created": "2019-12-09T07:50:22.446485+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHKA2 were changed from to Glycogen storage disease, type IXa1, MIM#306000",
"entity_name": "PHKA2",
"entity_type": "gene"
},
{
"created": "2019-12-09T07:49:44.008797+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHKA2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PHKA2",
"entity_type": "gene"
},
{
"created": "2019-12-09T07:49:13.456428+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHKA2 as Red List (low evidence)",
"entity_name": "PHKA2",
"entity_type": "gene"
},
{
"created": "2019-12-09T07:49:13.449179+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phka2 has been classified as Red List (Low Evidence).",
"entity_name": "PHKA2",
"entity_type": "gene"
},
{
"created": "2019-12-09T07:49:01.792125+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PHKA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease, type IXa1, MIM#306000; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PHKA2",
"entity_type": "gene"
},
{
"created": "2019-12-09T07:45:34.387792+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHIP as ready",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2019-12-09T07:45:34.380698+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phip has been classified as Green List (High Evidence).",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2019-12-09T07:45:29.185635+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHIP as Green List (high evidence)",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2019-12-09T07:45:29.175757+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phip has been classified as Green List (High Evidence).",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2019-12-09T07:45:15.506673+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHIP was added\ngene: PHIP was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list\nMode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PHIP were set to 29209020; 27900362; 23033978\nPhenotypes for gene: PHIP were set to Chung-Jansen syndrome, MIM#617991\nReview for gene: PHIP was set to GREEN\nAdded comment: Recent large case series describing 20 individuals; variable expressivity, some inherited from mildly affected parents, most de novo. \nSources: Expert list",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:54:14.205070+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHC1 as ready",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:54:14.198243+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:54:05.506643+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHC1 were set to ",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:53:51.563946+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHC1 were changed from to Microcephaly 11, primary, autosomal recessive, MIM#615414",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:53:18.303999+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:53:02.500628+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHC1 as Amber List (moderate evidence)",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:53:02.493349+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:52:44.496094+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PHC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23418308; Phenotypes: Microcephaly 11, primary, autosomal recessive, MIM#615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:52:07.047254+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHC1 as ready",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:52:07.039867+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:52:02.194965+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHC1 were changed from to Microcephaly 11, primary, autosomal recessive, MIM#615414",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:51:40.950925+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHC1 as Amber List (moderate evidence)",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:51:40.943549+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:50:59.933951+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHC1 were set to ",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:50:38.141846+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:50:21.689773+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHC1 as Amber List (moderate evidence)",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:50:21.575873+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:49:54.885495+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PHC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23418308; Phenotypes: Microcephaly 11, primary, autosomal recessive, MIM#615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:48:59.215407+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHC1 as ready",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:48:59.208351+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:48:50.750607+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHC1 were changed from to Microcephaly 11, primary, autosomal recessive, MIM#615414",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:48:35.552171+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHC1 were set to ",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:48:26.868221+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:48:17.073633+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHC1 as Amber List (moderate evidence)",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:48:17.064565+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:48:03.122363+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PHC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23418308; Phenotypes: Microcephaly 11, primary, autosomal recessive, MIM#615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHC1",
"entity_type": "gene"
}
]
}