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{
"count": 220806,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=732",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=730",
"results": [
{
"created": "2022-10-06T10:12:11.115495+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COQ4.",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:12:01.529111+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:05:32.802244+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COLQ.\nTag clinical trial tag was added to gene: COLQ.",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:05:12.849736+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COLQ.\nTag clinical trial tag was added to gene: COLQ.",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:04:39.572620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COLQ.\nTag clinical trial tag was added to gene: COLQ.",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:04:07.591628+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COLQ as ready",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:04:07.581971+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: colq has been classified as Green List (High Evidence).",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:03:57.282725+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COLQ.\nTag clinical trial tag was added to gene: COLQ.",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2022-10-06T10:00:31.664690+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 5, MIM# 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2022-10-06T09:58:17.420749+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2022-10-06T09:58:04.434606+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLN8: Changed phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2022-10-06T09:57:51.984165+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN8 as ready",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2022-10-06T09:57:51.976251+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln8 has been classified as Red List (Low Evidence).",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2022-10-06T09:57:48.374061+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2022-10-06T09:57:37.508956+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLN8 were set to ",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2022-10-06T09:57:23.690653+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLN8 as Red List (low evidence)",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2022-10-06T09:57:23.675576+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln8 has been classified as Red List (Low Evidence).",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2022-10-06T09:57:11.929284+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLN8: Rating: RED; Mode of pathogenicity: None; Publications: 33242182; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2022-10-06T09:55:45.258844+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN6 as ready",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2022-10-06T09:55:45.241372+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2022-10-06T09:02:38.982725+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLN6 were changed from Ceroid lipofuscinosis, neuronal, 6 to Ceroid lipofuscinosis, neuronal, 6, MIM# 601780",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2022-10-06T09:02:25.324482+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLN6 were set to ",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2022-10-06T09:02:13.220365+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLN6 as Amber List (moderate evidence)",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2022-10-06T09:02:13.208806+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:45:00.499021+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: CLN6.\nTag clinical trial tag was added to gene: CLN6.",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:44:46.114038+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: None; Publications: 33242182; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, MIM# 601780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:40:17.827682+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN5 as ready",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:40:17.819684+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:40:13.356937+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5 to Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; MONDO:0009745",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:39:58.909148+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLN5 as Amber List (moderate evidence)",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:39:58.900636+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:39:16.966887+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: CLN5.\nTag clinical trial tag was added to gene: CLN5.",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:38:58.394908+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLN5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731, MONDO:0009745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:33:27.120863+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN3 as ready",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:33:27.105727+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:33:19.106376+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3 to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:33:05.822189+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLN3 as Amber List (moderate evidence)",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:33:05.792188+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:32:51.547350+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: CLN3.\nTag clinical trial tag was added to gene: CLN3.",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:32:33.696426+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLN3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:30:38.798629+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAM16 as ready",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:30:38.787521+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pam16 has been classified as Green List (High Evidence).",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:30:33.463158+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAM16 as Green List (high evidence)",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:30:33.454807+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pam16 has been classified as Green List (High Evidence).",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:29:46.719050+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCNT as ready",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:29:46.708917+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcnt has been classified as Green List (High Evidence).",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:29:38.983853+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCNT as Green List (high evidence)",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:29:38.975204+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcnt has been classified as Green List (High Evidence).",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:28:36.240607+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POC1A as ready",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:28:36.231982+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poc1a has been classified as Green List (High Evidence).",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:28:32.305304+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POC1A as Green List (high evidence)",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:28:32.295554+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poc1a has been classified as Green List (High Evidence).",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:27:48.160088+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POP1 as ready",
"entity_name": "POP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:27:48.149984+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pop1 has been classified as Green List (High Evidence).",
"entity_name": "POP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:27:43.725070+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POP1 as Green List (high evidence)",
"entity_name": "POP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:27:43.717162+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pop1 has been classified as Green List (High Evidence).",
"entity_name": "POP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:27:00.906247+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ROR2 as ready",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:27:00.895537+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ror2 has been classified as Green List (High Evidence).",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:26:55.834965+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ROR2 as Green List (high evidence)",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:26:55.825505+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ror2 has been classified as Green List (High Evidence).",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:25:54.444936+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNG as ready",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:25:54.434861+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrng has been classified as Red List (Low Evidence).",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:25:50.911183+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNG were changed from Pterygium syndrome to Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:25:34.351112+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHRNG as Red List (low evidence)",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:25:34.342670+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrng has been classified as Red List (Low Evidence).",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:25:22.324070+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRNG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Escobar syndrome, MIM# 265000, Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:23:41.261682+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNE as ready",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:23:41.247589+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrne has been classified as Green List (High Evidence).",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:22:51.516339+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNE were changed from Congenital myasthenic syndrome, MIM#605809 to Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 4A, slow-channel, 605809",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:22:24.201908+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CHRNE.",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:22:07.910994+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CHRNE.",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:21:44.607301+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CHRNE.",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:21:24.474002+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CHRND.",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:21:05.316318+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CHRND.",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:20:50.442567+11:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CHRND.",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:18:43.332061+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CHRND.",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:18:28.423306+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established association with multiple subtypes of congenital myasthenia, both mono- and bi-allelic variants reported.\r\n\r\nSevere disorder, congenital.; to: Well established association with multiple subtypes of congenital myasthenia, both mono- and bi-allelic variants reported.\r\n\r\nSevere disorder, congenital.\r\n\r\nTreatment available.",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:18:11.396885+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 4B, fast-channel, 616324, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931, Myasthenic syndrome, slow-channel congenital, 601462, Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:15:29.877330+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nSevere disorder, perinatal onset.\r\n\r\nTreatment: 3,4-diaminopyridine, acetylcholine-esterase inhibitors; to: Well established gene-disease association for bi-allelic variants. Single individual only with mono-allelic variant reported.\r\n\r\nSevere disorder, perinatal onset.\r\n\r\nTreatment: 3,4-diaminopyridine, acetylcholine-esterase inhibitors",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:15:06.663155+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRND as ready",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:15:06.650740+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrnd has been classified as Green List (High Evidence).",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:15:01.313853+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRND were changed from Congenital myasthenic syndrome, MIM#616321 to Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322; Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323; Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:14:49.075312+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRND were set to ",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:14:17.690911+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 30808424; Phenotypes: Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322, Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323, Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321, Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:11:16.223412+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CHRNA1.",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:10:54.101541+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CHRNA1.",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:10:38.261165+11:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CHRNA1.",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:10:05.094467+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CHRNA1.",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:08:22.434151+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC5A2 as ready",
"entity_name": "SLC5A2",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:08:22.426183+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC5A2",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:08:18.667538+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC5A2 were changed from Renal glucosuria to Renal glucosuria, MIM# 233100",
"entity_name": "SLC5A2",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:08:07.054723+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC5A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SLC5A2",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:07:58.713609+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC5A2 as Red List (low evidence)",
"entity_name": "SLC5A2",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:07:58.705643+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC5A2",
"entity_type": "gene"
},
{
"created": "2022-10-06T08:07:48.613494+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC5A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal glucosuria, MIM# 233100; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SLC5A2",
"entity_type": "gene"
},
{
"created": "2022-10-05T20:41:11.985528+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTS19 were changed from Heart valve disorder, MONDO:0002869 to Cardiac valvular dysplasia 2, MIM# 620067",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2022-10-05T20:40:58.445694+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADAMTS19: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2022-10-05T20:40:49.342860+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAMTS19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiac valvular dysplasia 2, MIM# 620067; Mode of inheritance: None",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2022-10-05T20:40:38.240073+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTS19 were changed from Non-syndromic heart valve disease to Cardiac valvular dysplasia 2, MIM# 620067",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2022-10-05T20:40:15.914320+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADAMTS19: Changed phenotypes: Cardiac valvular dysplasia 2, MIM# 620067",
"entity_name": "ADAMTS19",
"entity_type": "gene"
}
]
}