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{
"count": 220959,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1957",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1955",
"results": [
{
"created": "2020-01-29T10:02:06.703744+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PMP22 were set to ",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:01:29.455740+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SALL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SALL1",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:00:49.150313+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Townes-Brocks syndrome 1, MIM#107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SALL1",
"entity_type": "gene"
},
{
"created": "2020-01-29T10:00:11.573223+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMP22 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:59:38.206040+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934 to Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:59:06.804477+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PMP22 were changed from to Charcot-Marie-Tooth disease, type 1E 118300",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:59:06.196971+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPT1 as ready",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:59:06.193511+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Evidence for gene-disease association rated as LIMITED by ClinGen. However, note deafness is also a feature of the multi-system, Leigh-like disorder caused by bi-allelic PNPT1 variants and therefore rated as Green.",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:59:06.171915+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.249",
"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": "2020-01-29T09:58:34.525507+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNPT1 were set to ",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:58:00.181737+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNPT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:57:27.163713+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPT1 were changed from to Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:56:54.813489+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNPT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:56:23.160544+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PNPT1 as Green List (high evidence)",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:56:23.153425+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.247",
"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": "2020-01-29T09:55:51.046816+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PNPT1 as Red List (low evidence)",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:55:51.029408+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpt1 has been classified as Red List (Low Evidence).",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:55:09.159522+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PNPT1: Rating: RED; Mode of pathogenicity: None; Publications: 23084290, 31752325; Phenotypes: Combined oxidative phosphorylation deficiency 13, MIM#614932, Deafness, autosomal recessive 70, MIM#614934; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:49:04.880623+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PBX1 as ready",
"entity_name": "PBX1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:49:04.870550+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pbx1 has been classified as Green List (High Evidence).",
"entity_name": "PBX1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:49:02.912095+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PMP22 as Amber List (moderate evidence)",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:49:02.903722+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmp22 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:48:30.957639+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PBX1 were changed from to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641",
"entity_name": "PBX1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:46:55.644219+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PMP22: Rating: AMBER; Mode of pathogenicity: None; Publications: 8355122, 10330345, 12578939; Phenotypes: Charcot-Marie-Tooth disease, type 1E 118300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:46:45.457509+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.245",
"user_name": "Lilian Rudd",
"item_type": "entity",
"text": "reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23851939, 29681087; Phenotypes: otofaciocervical syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:42:17.887676+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PBX1 were set to ",
"entity_name": "PBX1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:40:02.074309+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OPA1 as ready",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:40:02.066524+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: opa1 has been classified as Green List (High Evidence).",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:39:57.044369+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PBX1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:39:14.297544+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29036646; Phenotypes: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PBX1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:37:54.807653+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPA1 were changed from to Optic atrophy plus syndrome, MIM# 125250",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:37:15.206108+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:36:33.096459+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy plus syndrome, MIM# 125250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:35:27.788777+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OSBPL2 were changed from Deafness, autosomal dominant 67, MIM# 616340 to Deafness, autosomal dominant 67, MIM# 616340",
"entity_name": "OSBPL2",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:35:10.758782+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OSBPL2 as ready",
"entity_name": "OSBPL2",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:35:10.748285+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: osbpl2 has been classified as Green List (High Evidence).",
"entity_name": "OSBPL2",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:34:52.055552+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OSBPL2 were changed from to Deafness, autosomal dominant 67, MIM# 616340",
"entity_name": "OSBPL2",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:34:42.254830+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR2F1 as ready",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:34:42.246059+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2f1 has been classified as Red List (Low Evidence).",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:34:20.264806+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR2F1 were set to ",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:33:45.829862+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR2F1 were changed from to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:33:13.283935+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NR2F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:32:48.568126+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.239",
"user_name": "Lilian Rudd",
"item_type": "entity",
"text": "reviewed gene: P2RX2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23345450, 24211385; Phenotypes: autosomal dominant deafness; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "P2RX2",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:32:40.857882+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OSBPL2 were set to ",
"entity_name": "OSBPL2",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:32:08.574959+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NR2F1 as Red List (low evidence)",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:32:08.547525+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2f1 has been classified as Red List (Low Evidence).",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:31:28.033612+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NR2F1: Rating: RED; Mode of pathogenicity: None; Publications: 19353646, 24462372; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:26:03.598653+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OSBPL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OSBPL2",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:25:57.933337+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LHX3 as ready",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:25:57.924581+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lhx3 has been classified as Green List (High Evidence).",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:25:21.335778+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OSBPL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25077649, 25759012, 31451425, 30894143; Phenotypes: Deafness, autosomal dominant 67, MIM# 616340; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OSBPL2",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:23:59.103293+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.237",
"user_name": "Lilian Rudd",
"item_type": "entity",
"text": "reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3MC syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:19:46.423789+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LHX3 were changed from Pituitary hormone deficiency, combined, 3, MIM# 221750 to Pituitary hormone deficiency, combined, 3, MIM# 221750",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:19:14.514598+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LHX3 were changed from Pituitary hormone deficiency, combined, 3, MIM# 221750 to Pituitary hormone deficiency, combined, 3, MIM# 221750",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:18:40.609654+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LHX3 were changed from to Pituitary hormone deficiency, combined, 3, MIM# 221750",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:18:08.534493+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LHX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2020-01-29T09:17:17.434120+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 3, MIM# 221750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2020-01-29T08:34:34.450600+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1007",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25839420, 25728776; Phenotypes: Short stature, microcephaly, and endocrine dysfunction (MIM#616541); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2020-01-29T08:33:11.371134+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.74",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: XRCC4 was added\ngene: XRCC4 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XRCC4 were set to PMID: 25839420; 25728776\nPhenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction (MIM#616541)\nReview for gene: XRCC4 was set to GREEN\nAdded comment: Biallelic variants reported in multiple affected families with microcephaly \nSources: Literature",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2020-01-28T22:23:44.634554+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIMP2 as ready",
"entity_name": "AIMP2",
"entity_type": "gene"
},
{
"created": "2020-01-28T22:23:44.627374+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aimp2 has been classified as Red List (Low Evidence).",
"entity_name": "AIMP2",
"entity_type": "gene"
},
{
"created": "2020-01-28T22:21:43.740199+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP37 as ready",
"entity_name": "NUP37",
"entity_type": "gene"
},
{
"created": "2020-01-28T22:21:43.732545+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup37 has been classified as Red List (Low Evidence).",
"entity_name": "NUP37",
"entity_type": "gene"
},
{
"created": "2020-01-28T22:20:41.680617+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCRIB as ready",
"entity_name": "SCRIB",
"entity_type": "gene"
},
{
"created": "2020-01-28T22:20:41.673257+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scrib has been classified as Red List (Low Evidence).",
"entity_name": "SCRIB",
"entity_type": "gene"
},
{
"created": "2020-01-28T22:20:30.168203+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCRIB were set to ",
"entity_name": "SCRIB",
"entity_type": "gene"
},
{
"created": "2020-01-28T22:01:45.400165+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDSR as ready",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-01-28T22:01:45.392382+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdsr has been classified as Red List (Low Evidence).",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-01-28T22:01:39.548656+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDSR were changed from Erythrokeratodermia variabilis et progressiva 4 MIM#617526 to Erythrokeratodermia variabilis et progressiva 4 MIM#617526",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-01-28T22:01:00.590878+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDSR were changed from to Erythrokeratodermia variabilis et progressiva 4 MIM#617526",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-01-28T22:00:26.080702+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:59:49.261071+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDSR as Red List (low evidence)",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:59:49.253817+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdsr has been classified as Red List (Low Evidence).",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:22:58.624396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANK3 as ready",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:22:58.617123+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ank3 has been classified as Red List (Low Evidence).",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:22:39.998180+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANK3 were changed from to Mental retardation, autosomal recessive, 37, MIM# 615493",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:22:24.559541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANK3 were set to ",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:22:07.915983+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANK3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:21:50.074901+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANK3 as Red List (low evidence)",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:21:50.067271+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ank3 has been classified as Red List (Low Evidence).",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:21:30.718546+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANK3: Rating: RED; Mode of pathogenicity: None; Publications: 23390136, 28687526; Phenotypes: Mental retardation, autosomal recessive, 37 615493; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:21:03.661851+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANK3 were set to 23390136; 28687526",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:20:41.398777+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANK3 as ready",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:20:41.389999+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ank3 has been classified as Red List (Low Evidence).",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:20:27.977328+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANK3 were set to 23390136; 28687526",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:19:56.137562+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANK3 were set to ",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:19:23.786963+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANK3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:18:50.828872+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANK3 were changed from to Mental retardation, autosomal recessive, 37 615493",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:18:17.385602+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANK3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:17:43.675635+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANK3 as Red List (low evidence)",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:17:43.667373+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ank3 has been classified as Red List (Low Evidence).",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:16:52.064971+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANK3: Rating: RED; Mode of pathogenicity: None; Publications: 23390136, 28687526; Phenotypes: Mental retardation, autosomal recessive, 37 615493; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:11:32.066725+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALX4 as ready",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:11:32.059242+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alx4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:11:21.100726+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALX4 were changed from to Frontonasal dysplasia 2, MIM# 613451",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:10:46.514120+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALX4 were set to ",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:10:03.931655+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:09:26.914737+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALX4 as Amber List (moderate evidence)",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:09:26.906958+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alx4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2020-01-28T21:08:40.366318+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: None; Publications: 19409524; Phenotypes: Frontonasal dysplasia 2, MIM# 613451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALX4",
"entity_type": "gene"
}
]
}