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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=911",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=909",
"results": [
{
"created": "2022-03-28T13:41:18.520606+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1515",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: LIAS were set to ",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:40:48.477353+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1515",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:40:41.684905+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACER3 were changed from Leukodystrophy to Leukodystrophy, progressive, early childhood-onset, OMIM:617762",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:40:23.872991+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACER3 were set to 32816236; 26792856",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:40:06.314502+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACER3 as Green List (high evidence)",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:40:06.303897+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acer3 has been classified as Green List (High Evidence).",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:39:34.707747+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12071",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LIAS as ready",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:39:34.698357+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12071",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lias has been classified as Green List (High Evidence).",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:39:27.855089+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12071",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LIAS were changed from to Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:39:04.485969+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12070",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: LIAS were set to ",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:38:46.013696+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12069",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:38:23.410520+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12068",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152680, 24334290, 26108146; Phenotypes: Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:31:49.859178+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12068",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LHX4 were changed from to Pituitary hormone deficiency, combined, 4, MIM# 262700",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:31:40.692377+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12067",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LHX4 as ready",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:31:40.657332+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12067",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lhx4 has been classified as Green List (High Evidence).",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:31:20.591731+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12067",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LHX4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:30:57.979194+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12066",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM# 262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:24:31.271050+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.428",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LHX3 as ready",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:24:31.255359+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.428",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Gene not associated with absence of corpus callosum.",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:24:31.207838+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.428",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lhx3 has been classified as Red List (Low Evidence).",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:23:46.110276+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.428",
"user_name": "Alison Yeung",
"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": "2022-03-28T13:23:43.916604+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12066",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29205472, 32684373, 24741715; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:23:12.181357+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.427",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LHX3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:22:51.360664+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.427",
"user_name": "Alison Yeung",
"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": "2022-03-28T13:22:30.876022+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.426",
"user_name": "Alison Yeung",
"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": "2022-03-28T13:22:09.428671+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.426",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: LHX3 as Red List (low evidence)",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:22:09.418989+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.426",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lhx3 has been classified as Red List (Low Evidence).",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:21:34.603744+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.425",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LHX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 3, MIM# 221750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:17:29.099179+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12066",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SEMA3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28075028, 33369061, 20301509, 21059704, 24124006, 22927827; Phenotypes: Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897, congenital heart disease, short stature; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:17:18.691903+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12066",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LHX3 as ready",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:17:18.681767+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12066",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lhx3 has been classified as Green List (High Evidence).",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:17:13.337880+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12066",
"user_name": "Alison Yeung",
"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": "2022-03-28T13:16:53.285811+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12065",
"user_name": "Alison Yeung",
"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": "2022-03-28T13:16:26.969515+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12064",
"user_name": "Alison Yeung",
"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; Current diagnostic: yes",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:10:51.202614+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.293",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LHB as ready",
"entity_name": "LHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:10:51.190946+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.293",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lhb has been classified as Green List (High Evidence).",
"entity_name": "LHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:10:48.455262+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.293",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LHB were changed from to Hypogonadotropic hypogonadism 23 with or without anosmia, MIM# 228300",
"entity_name": "LHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:10:39.604709+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.292",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LHB was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:10:24.853128+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.291",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:09:41.226446+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12064",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LHB as ready",
"entity_name": "LHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:09:41.215432+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12064",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lhb has been classified as Green List (High Evidence).",
"entity_name": "LHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:09:32.946871+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12064",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LHB were changed from to Hypogonadotropic hypogonadism 23 with or without anosmia, MIM# 228300",
"entity_name": "LHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:09:12.432776+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12063",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:08:49.212553+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12062",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 23 with or without anosmia, MIM# 228300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:06:32.329670+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.246",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: None; Publications: 16685654; Phenotypes: ?Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: Unknown",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:05:29.341840+11:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.23",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: None; Publications: 16685654; Phenotypes: ?Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: Unknown",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:04:03.970853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12062",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "changed review comment from: Just one case reported in the literature in 2006; to: Just one case reported in the literature in 2006\r\n",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T13:02:53.028653+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12062",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: None; Publications: 16685654; Phenotypes: ?Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: Unknown",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T12:56:51.691536+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.5",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: None; Publications: 16685654; Phenotypes: Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: Unknown",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T12:44:38.816940+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12062",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32757236, PMID: 31565851, PMID: 29333906, PMID: 18849486; Phenotypes: Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112, MONDO:0013141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2022-03-28T12:33:02.964161+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12062",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SCARB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18308289, 18424452, 23659519, 19847901, 18022370, 19933215; Phenotypes: Progressive Myoclonus Epilepsy, MONDO:0020074, Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2022-03-28T12:10:19.264419+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12062",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SASH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23333244, 27885802, 32981204; Phenotypes: Dyschromatosis universalis hereditaria 1, MIM #127500, familial generalized lentiginosis MONDO:007891; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SASH1",
"entity_type": "gene"
},
{
"created": "2022-03-28T12:05:32.008660+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12062",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20818383, 32518176, 23553477, 31917109, 32518176, 31787496, 30897263, 22826544; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2022-03-28T12:05:11.466766+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.747",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20818383, 32518176, 23553477, 31917109, 32518176, 31787496, 30897263, 22826544; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2022-03-28T12:05:06.315546+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.425",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 31917109, 23553477; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2022-03-28T12:04:56.097399+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.457",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20818383, 32518176, 23553477, 31917109, 32518176, 31787496, 30897263, 22826544; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2022-03-28T12:04:04.085581+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4621",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20818383, 32518176, 23553477, 31917109, 32518176, 31787496, 30897263, 22826544; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2022-03-28T11:57:52.681923+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12062",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29198720; Phenotypes: Leber congenital amaurosis with early onset deafness, LCAEOD, OMIM #617879, MONDO:0060650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2022-03-28T11:53:15.013086+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12062",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LGI1 as ready",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2022-03-28T11:53:14.990605+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12062",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lgi1 has been classified as Green List (High Evidence).",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2022-03-28T11:53:07.971693+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12062",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LGI1 were changed from to Epilepsy, familial temporal lobe, 1, MIM# 6000512",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2022-03-28T11:50:52.092012+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12061",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: LGI1 were set to ",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2022-03-28T11:50:30.205826+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12060",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LGI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2022-03-28T11:42:45.698856+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12059",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10233776, 19250380, 10861667, 10982191, 20301726, 20089052; Phenotypes: Insensitivity to pain, congenital, with anhidrosis - MIM#256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2022-03-28T11:42:41.880823+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4621",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10233776, 19250380, 10861667, 10982191, 20301726, 20089052; Phenotypes: Insensitivity to pain, congenital, with anhidrosis - MIM#256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2022-03-28T11:30:05.753325+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12059",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NTF4: Rating: RED; Mode of pathogenicity: None; Publications: 20806036, 19765683, 22815630; Phenotypes: Glaucoma 1, open angle, 1O - MIIM#613100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NTF4",
"entity_type": "gene"
},
{
"created": "2022-03-28T11:15:22.257175+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4621",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NSUN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22541559, 22541562, 21063731, 22577224; Phenotypes: Mental retardation, autosomal recessive 5 - MIM#611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2022-03-28T11:07:58.719771+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12059",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NRXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25486015, 19896112, 21964664, 30873608, 35101781, 22337556, 22670139; Phenotypes: Pitt-Hopkins-like syndrome 2 - MIM#614325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NRXN1",
"entity_type": "gene"
},
{
"created": "2022-03-28T11:07:53.395854+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.180",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NRXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25486015, 19896112, 21964664, 30873608, 35101781, 22337556, 22670139; Phenotypes: Pitt-Hopkins-like syndrome 2 - MIM#614325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NRXN1",
"entity_type": "gene"
},
{
"created": "2022-03-28T11:07:50.354067+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1514",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NRXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25486015, 19896112, 21964664, 30873608, 35101781, 22337556, 22670139; Phenotypes: Pitt-Hopkins-like syndrome 2 - MIM#614325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NRXN1",
"entity_type": "gene"
},
{
"created": "2022-03-28T11:07:47.286179+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4621",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NRXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25486015, 19896112, 21964664, 30873608, 35101781, 22337556, 22670139; Phenotypes: Pitt-Hopkins-like syndrome 2 - MIM#614325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NRXN1",
"entity_type": "gene"
},
{
"created": "2022-03-28T11:00:03.659013+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12059",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LGI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18711109, 12205652, 15079010, 22496201; Phenotypes: Epilepsy, familial temporal lobe, 1, MIM# 6000512; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:52:42.069817+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12059",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LEMD3 as ready",
"entity_name": "LEMD3",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:52:42.058172+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12059",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lemd3 has been classified as Green List (High Evidence).",
"entity_name": "LEMD3",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:52:18.387352+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12059",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LEMD3 were changed from to Buschke-Ollendorff syndrome MIM#166700; Osteopoikilosis with or without melorheostosis MIM#166700",
"entity_name": "LEMD3",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:52:00.238713+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12058",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: LEMD3 were set to ",
"entity_name": "LEMD3",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:51:39.558378+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12057",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LEMD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LEMD3",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:50:47.508223+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.238",
"user_name": "Abhijit Kulkarni",
"item_type": "entity",
"text": "reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 34667062, 10546100; Phenotypes: INFANTILE SIALIC ACID STORAGE DISEASE, ISSD (#MIM: 269920); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:48:01.657311+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12056",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NRL: Rating: GREEN; Mode of pathogenicity: None; Publications: 15591106, 29385733, 21981118, 10192380, 9344665; Phenotypes: Retinitis pigmentosa 27 - MIM#613750, Retinal degeneration, autosomal recessive, clumped pigment type; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NRL",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:47:00.877049+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.21",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, 4, MIM# 603813 to Hypercholesterolemia, familial, 4, MIM# 603813",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:46:38.951498+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.20",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, 4, MIM# 603813 to Hypercholesterolemia, familial, 4, MIM# 603813",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:46:19.151779+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.20",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LDLRAP1 were changed from to Hypercholesterolemia, familial, 4, MIM# 603813",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:45:34.519653+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.19",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LDLRAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:45:34.209789+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.18",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LDLRAP1 as ready",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:45:34.196243+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.18",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: ldlrap1 has been classified as Green List (High Evidence).",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:44:37.246479+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12056",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LDLRAP1 as ready",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:44:37.236800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12056",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: ldlrap1 has been classified as Green List (High Evidence).",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:44:31.795545+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12056",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LDLRAP1 were changed from to Hypercholesterolemia, familial, 4, MIM# 603813",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:44:13.206163+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12055",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: LDLRAP1 were set to ",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:44:00.565998+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12054",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LDLRAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:43:28.523828+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12053",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LDLRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 4351242; Phenotypes: Hypercholesterolemia, familial, 4, MIM# 603813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:38:38.256929+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.107",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LDHB as ready",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:38:38.245179+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.107",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: ldhb has been classified as Red List (Low Evidence).",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:38:34.623996+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.107",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LDHB were changed from Lactate dehydrogenase-B deficiency, 614128 (3) to Lactate dehydrogenase-B deficiency, MIM# 614128",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:38:16.967046+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.106",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: LDHB were set to ",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:38:03.984913+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.105",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: LDHB as Red List (low evidence)",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:38:03.973896+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.105",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: ldhb has been classified as Red List (Low Evidence).",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:37:33.016693+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.104",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LDHB: Rating: RED; Mode of pathogenicity: None; Publications: 6383647; Phenotypes: Lactate dehydrogenase-B deficiency, MIM# 614128; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:32:49.999054+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12053",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LDHB as ready",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:32:49.988258+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12053",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: ldhb has been classified as Red List (Low Evidence).",
"entity_name": "LDHB",
"entity_type": "gene"
}
]
}