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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1353",
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"results": [
{
"created": "2021-04-14T14:23:16.411444+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SMPD1: Changed publications: 32292456, 32280632, 28164782",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:23:00.962944+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32292456, 32280632, 28164782; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, MONDO:0009756, Niemann-Pick disease, type B, MIM# 607616, MONDO:0011871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:21:49.379410+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMPD1 as ready",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:21:49.367253+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smpd1 has been classified as Green List (High Evidence).",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:21:46.110436+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, MIM# 257200; MONDO:0009756; Niemann-Pick disease, type B, MIM# 607616; MONDO:0011871",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:21:18.631747+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMPD1 were set to ",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:17:54.478452+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:17:29.552144+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, MONDO:0009756, Niemann-Pick disease, type B, MIM# 607616, MONDO:0011871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:13:28.614994+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPP1 as ready",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:13:28.603724+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpp1 has been classified as Green List (High Evidence).",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:13:25.769024+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; MONDO:0008769",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:13:02.181089+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPP1 were set to ",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:12:33.788977+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:12:07.429428+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9295267, 18684116, 23418007, 26224725, 31283065; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, MIM# 204500, MONDO:0008769; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:11:41.705209+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Over 300 families reported, mutational spectrum reviewed in PMID 31283065. Two known pathogenic variants, c.509-1 G>C and c.622 C>T (p.(Arg208*)), collectively occurred in 60% of affected individuals in the sample, and accounted for 50% of disease-associated alleles.; to: Over 300 families reported, mutational spectrum reviewed in PMID 31283065. Two known pathogenic variants, c.509-1 G>C and c.622 C>T (p.(Arg208*)), collectively occurred in 60% of affected individuals in the sample, and accounted for 50% of disease-associated alleles.\r\n\r\nClinical course is characterised by progressive neurological deterioration and seizures.",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:09:56.680250+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPP1 as ready",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:09:56.669857+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpp1 has been classified as Green List (High Evidence).",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:09:46.126567+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPP1 were changed from Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270 to Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; MONDO:0008769; Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270; MONDO:0012235",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:09:27.025800+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPP1 were set to 31283065",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:09:21.715237+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; MONDO:0008769; Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270; MONDO:0012235",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:09:01.453524+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9295267, 18684116, 23418007, 26224725, 31283065; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, MIM# 204500, MONDO:0008769, Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270, MONDO:0012235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:08:58.503914+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPP1 were set to ",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:08:16.871946+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:07:32.745662+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9295267, 18684116, 23418007, 26224725, 31283065; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, MIM# 204500, MONDO:0008769, Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270, MONDO:0012235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:28:43.373693+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association for bi-allelic variants. Early-onset PD reported with mono-allelic variants.; to: Well established gene-disease association for bi-allelic variants. Early-onset PD reported with mono-allelic variants.\r\n\r\nThe PSAP gene encodes saposins A, B, C and D. Variants resulting in PSAP null allele can be shared in patients with the deficit of other saposins (A-D) or whole prosaposin. The patient's phenotype depends then on the nature of the second allele - atypical Gaucher disease in case of saposin A, MLD in case of saposin B, and Krabbe disease in case of saposin C impairing mutations. The clinically most severe prosaposin deficit is caused by the presence of two PSAP null alleles.",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:28:27.002763+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSAP: Changed phenotypes: Combined SAP deficiency, MIM# 611721, Encephalopathy due to prosaposin deficiency, MONDO:0012719, Krabbe disease, atypical, MIM# 611722, MONDO:0012720, Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900, MONDO:0009590, Gaucher disease, atypical, MIM# 610539, MONDO:0012517",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:28:05.812400+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSAP as ready",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:28:05.800051+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psap has been classified as Green List (High Evidence).",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:27:59.307309+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSAP were changed from to Combined SAP deficiency, MIM# 611721; Encephalopathy due to prosaposin deficiency, MONDO:0012719; Krabbe disease, atypical, MIM# 611722; MONDO:0012720; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900; MONDO:0009590; Gaucher disease, atypical, MIM# 610539; MONDO:0012517",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:27:58.367479+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSAP were changed from Parkinson disease, AD; Combined SAP deficiency 611721; Gaucher disease, atypical, MIM# 610539; Krabbe disease, atypical, MIM# 611722; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900 to Parkinson disease, AD; Combined SAP deficiency, MIM# 611721; Encephalopathy due to prosaposin deficiency, MONDO:0012719; Krabbe disease, atypical, MIM# 611722; MONDO:0012720; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900; MONDO:0009590; Gaucher disease, atypical, MIM# 610539; MONDO:0012517",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:27:06.981662+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSAP: Changed phenotypes: Combined SAP deficiency, MIM# 611721, Encephalopathy due to prosaposin deficiency, MONDO:0012719, Krabbe disease, atypical, MIM# 611722, MONDO:0012720, Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900, MONDO:0009590, Gaucher disease, atypical, MIM# 610539, MONDO:0012517",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:26:18.228116+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PSAP were set to ",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:26:04.614463+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSAP: Changed publications: 32201884, 10682309, 1371116, 15773042, 31061751, 30632081",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:25:39.862327+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:25:09.809422+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 10682309, 1371116, 15773042, 31061751, 30632081; Phenotypes: Combined SAP deficiency, MIM# 611721, Encephalopathy due to prosaposin deficiency, MONDO:0012719, Krabbe disease, atypical, MIM# 611722, MONDO:0012720, Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900, MONDO:0009590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:18:02.726798+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPT1 as ready",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:18:02.716130+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppt1 has been classified as Green List (High Evidence).",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:17:53.172650+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPT1 were changed from to Ceroid lipofuscinosis, neuronal, 1, MIM# 256730; MONDO:0009744",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:17:35.519539+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPT1 were set to ",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:17:15.819235+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:16:54.444839+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7637805, 9425237, 9664077; Phenotypes: Ceroid lipofuscinosis, neuronal, 1, MIM# 256730, MONDO:0009744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:16:28.466985+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPT1 as ready",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:16:28.448910+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppt1 has been classified as Green List (High Evidence).",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:16:09.819348+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPT1 were changed from to Ceroid lipofuscinosis, neuronal, 1, MIM# 256730; MONDO:0009744",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:15:45.206049+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPT1 were set to ",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:15:13.644415+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:14:40.641208+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7637805, 9425237, 9664077; Phenotypes: Ceroid lipofuscinosis, neuronal, 1, MIM# 256730, MONDO:0009744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:12:39.671038+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPC2 as ready",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:12:39.659811+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npc2 has been classified as Green List (High Evidence).",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:12:27.118286+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPC2 were changed from to Niemann-pick disease, type C2, MIM# 607625; MONDO:0011873",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:11:55.848351+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPC2 were set to ",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:11:30.302681+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:10:57.821716+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11125141, 17470133; Phenotypes: Niemann-pick disease, type C2, MIM# 607625, MONDO:0011873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:08:51.701172+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPC1 as ready",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:08:51.691389+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npc1 has been classified as Green List (High Evidence).",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:08:48.576479+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPC1 were changed from to Niemann-Pick disease, type C1 and type D, MIM# 257220; MONDO:0009757",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:08:17.956657+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPC1 were set to ",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:07:48.471840+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:07:21.273934+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9211849, 11333381; Phenotypes: Niemann-Pick disease, type C1 and type D, MIM# 257220, MONDO:0009757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:05:22.457661+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEU1 as ready",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:05:22.447464+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: neu1 has been classified as Green List (High Evidence).",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:05:15.263892+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEU1 were changed from to Sialidosis, type I and type II, MIM# 256550; MONDO:0009738",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:04:57.504075+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEU1 were set to ",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:04:41.572583+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:04:23.708369+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8985184, 9054950, 11063730; Phenotypes: Sialidosis, type I and type II, MIM# 256550, MONDO:0009738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:03:38.673962+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEU1 as ready",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:03:38.656449+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: neu1 has been classified as Green List (High Evidence).",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:03:35.497445+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEU1 were changed from to Sialidosis, type I and type II, MIM# 256550; MONDO:0009738",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:03:10.915641+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEU1 were set to ",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:02:40.860233+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2021-04-14T13:02:11.461215+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8985184, 9054950, 11063730; Phenotypes: Sialidosis, type I and type II, MIM# 256550, MONDO:0009738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:26:07.951603+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAGLU as ready",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:26:07.941052+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naglu has been classified as Green List (High Evidence).",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:26:05.248388+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAGLU were changed from to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; MONDO:0009656; Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491; MONDO:0014665",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:26:04.613049+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAGLU were changed from Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491 to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; MONDO:0009656; Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491; MONDO:0014665",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:24:31.171164+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAGLU as ready",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:24:31.156794+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naglu has been classified as Green List (High Evidence).",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:24:24.512670+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAGLU were changed from to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:24:07.882980+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAGLU were set to ",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:23:46.042399+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NAGLU was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:23:24.849106+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: 25818867, 8650226; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920, Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:23:16.939779+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAGLU were set to ",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:22:39.164262+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NAGLU was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:22:12.330597+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: 25818867, 8650226; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920, Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:18:30.819747+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAGA as ready",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:18:30.810147+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naga has been classified as Green List (High Evidence).",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:18:14.107659+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAGA were changed from Kanzaki disease (MIM # 609242); Schindler disease, type I or III (MIM# 609241) to Kanzaki disease, MIM# 609242; Schindler disease, type I and type II 609241; alpha-N-acetylgalactosaminidase deficiency MONDO:0017779",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:17:54.458963+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAGA were set to 1313741; 31468281",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:17:35.488809+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAGA were changed from to Kanzaki disease, MIM# 609242; Schindler disease, type I and type II 609241; alpha-N-acetylgalactosaminidase deficiency MONDO:0017779",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:17:28.783123+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11313741, 31468281, 15619430, 8782044; Phenotypes: Kanzaki disease, MIM# 609242, Schindler disease, type I and type II 609241, alpha-N-acetylgalactosaminidase deficiency MONDO:0017779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:16:42.946414+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAGA were set to ",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:16:10.408749+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NAGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:15:38.202787+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11313741, 31468281, 15619430, 8782044; Phenotypes: Kanzaki disease, MIM# 609242, Schindler disease, type I and type II 609241, alpha-N-acetylgalactosaminidase deficiency MONDO:0017779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2021-04-14T08:36:44.246596+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MIA3 as ready",
"entity_name": "MIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T08:36:44.237162+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mia3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T08:36:34.147800+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIA3 as Amber List (moderate evidence)",
"entity_name": "MIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T08:36:34.138048+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mia3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T08:36:10.040390+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MIA3 was added\ngene: MIA3 was added to Skeletal dysplasia. Sources: Expert list\nMode of inheritance for gene: MIA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MIA3 were set to 32101163; 33778321\nPhenotypes for gene: MIA3 were set to Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269\nReview for gene: MIA3 was set to AMBER\nAdded comment: Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability. Four affected siblings reported, homozygous variant affecting splicing. Mouse model has absence of bone mineralization. \nSources: Expert list",
"entity_name": "MIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T08:33:41.816821+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MIA3 as ready",
"entity_name": "MIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T08:33:41.806513+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mia3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MIA3",
"entity_type": "gene"
}
]
}