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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1357",
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"results": [
{
"created": "2021-04-10T20:19:46.553108+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYP27A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2021-04-10T20:19:23.318290+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP27A1 as Red List (low evidence)",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2021-04-10T20:19:23.308226+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp27a1 has been classified as Red List (Low Evidence).",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2021-04-10T20:18:50.274392+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYP27A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, MIM# 213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:57:28.129995+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HYAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:57:03.837154+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HYAL1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:56:45.822978+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HYAL1 as ready",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:56:45.812674+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyal1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:56:34.378755+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HYAL1 were changed from to Mucopolysaccharidosis type IX, MIM# 601492; MONDO:0011093",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:56:12.735674+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HYAL1 were set to ",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:55:52.245950+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HYAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:55:32.921990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HYAL1 as Amber List (moderate evidence)",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:55:32.911837+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyal1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:55:13.739625+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HYAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 10339581, 18344557, 21559944; Phenotypes: Mucopolysaccharidosis type IX, MIM# 601492, MONDO:0011093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:54:33.335331+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HYAL1 as ready",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:54:33.326144+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyal1 has been classified as Red List (Low Evidence).",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:54:26.672849+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HYAL1 were changed from to Mucopolysaccharidosis type IX, MIM# 601492; MONDO:0011093",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:53:58.004669+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HYAL1 were set to ",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:53:35.144724+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HYAL1 as Red List (low evidence)",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:53:35.135749+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyal1 has been classified as Red List (Low Evidence).",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:52:57.136145+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HYAL1: Rating: RED; Mode of pathogenicity: None; Publications: 10339581, 18344557, 21559944; Phenotypes: Mucopolysaccharidosis type IX, MIM# 601492, MONDO:0011093; Mode of inheritance: None",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:52:19.715423+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HYAL1 as ready",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:52:19.706098+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyal1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:52:03.296935+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HYAL1 were changed from to Mucopolysaccharidosis type IX, MIM# 601492; MONDO:0011093",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:51:33.235646+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HYAL1 were set to ",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:51:06.580416+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HYAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:50:38.595751+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HYAL1 as Amber List (moderate evidence)",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:50:38.583747+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyal1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T15:50:12.022184+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HYAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 10339581, 18344557, 21559944; Phenotypes: Mucopolysaccharidosis type IX, MIM# 601492, MONDO:0011093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:36:25.499213+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HGSNAT as ready",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:36:25.488285+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hgsnat has been classified as Green List (High Evidence).",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:36:22.512197+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HGSNAT were changed from to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930; MONDO:0009657",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:35:59.728049+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HGSNAT were set to ",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:35:16.127982+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HGSNAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:34:51.299348+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 31536183; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930, MONDO:0009657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:28:15.988212+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HGSNAT as ready",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:28:15.979399+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hgsnat has been classified as Green List (High Evidence).",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:28:10.889415+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HGSNAT were changed from to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930; MONDO:0009657",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:27:44.299459+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HGSNAT were set to ",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:27:09.213266+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HGSNAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:26:36.506198+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 19479962, 31228227, 20825431, 20583299; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930, MONDO:0009657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:24:45.789610+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HGSNAT as ready",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:24:45.780219+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hgsnat has been classified as Green List (High Evidence).",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:24:42.671034+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HGSNAT were changed from to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930; MONDO:0009657",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:24:19.896629+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HGSNAT were set to ",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:23:52.076352+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HGSNAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:23:27.536428+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 19479962, 31228227, 20825431, 20583299; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930, MONDO:0009657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:20:45.753446+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HGSNAT were changed from Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 MONDO:0009657 Retinitis pigmentosa 73, MIM# 616544 MONDO:0014687 to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930; MONDO:0009657; Retinitis pigmentosa 73, MIM# 616544; MONDO:0014687",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:19:49.832250+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 25859010; Phenotypes: Retinitis pigmentosa 73, MIM# 616544, MONDO:0014687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:19:17.925208+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HGSNAT were set to 17033958; 25859010",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:19:13.082051+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HGSNAT were set to 19479962; 31228227; 20825431; 20583299",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:18:43.781570+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HGSNAT: Changed publications: 17033958, 25859010, 19479962, 31228227, 20825431, 20583299",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:18:30.237020+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HGSNAT were changed from Mucopolysaccharidosis type IIIC (Sanfilippo C) (MIM #252930); Retinitis pigmentosa 73 (MIM # 616544) to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 MONDO:0009657 Retinitis pigmentosa 73, MIM# 616544 MONDO:0014687",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:17:42.576454+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HGSNAT as ready",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:17:42.566569+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hgsnat has been classified as Green List (High Evidence).",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:17:39.665242+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HGSNAT were changed from to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930; MONDO:0009657; Retinitis pigmentosa 73, MIM# 616544; MONDO:0014687",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:17:09.728648+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HGSNAT were set to ",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:16:38.645188+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HGSNAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:16:06.997230+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033958, 25859010; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930, MONDO:0009657, Retinitis pigmentosa 73, MIM# 616544, MONDO:0014687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:12:22.295016+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEXB as ready",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:12:22.285343+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hexb has been classified as Green List (High Evidence).",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:12:14.184609+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800; MONDO:0010006",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:11:55.087090+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HEXB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:11:38.242976+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800, MONDO:0010006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:11:20.351972+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nSandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease. Weakness begins in the first 6 months of life. Startle reaction, early blindness, progressive neurological deterioration, doll-like face, cherry red spots, and macrocephaly are the typical clinical features.; to: Well established gene-disease association.\r\n\r\nSandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease. Weakness begins in the first 6 months of life. Startle reaction, early blindness, progressive neurological deterioration, doll-like face, cherry red spots, and macrocephaly are the typical clinical features.\r\n\r\nLater onset, milder disease presenting with neurological signs such as ataxia has also been described.",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:09:35.206647+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.\r\n\r\nSandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease. Weakness begins in the first 6 months of life. Startle reaction, early blindness, progressive neurological deterioration, doll-like face, cherry red spots, and macrocephaly are the typical clinical features.",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:07:19.489640+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEXB as ready",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:07:19.476234+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hexb has been classified as Green List (High Evidence).",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:07:16.989159+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800; MONDO:0010006",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:06:47.412464+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HEXB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:06:12.992657+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800, MONDO:0010006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2021-04-10T11:03:06.730153+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEXA were changed from GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800 to GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800; MONDO:0010100",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2021-04-10T09:04:11.560080+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEXA as ready",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2021-04-10T09:04:11.548951+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hexa has been classified as Green List (High Evidence).",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2021-04-10T09:04:08.044432+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms, MIM# 272800; Tay-Sachs disease, MIM# 272800; MONDO:0010100",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2021-04-10T09:03:38.409329+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HEXA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2021-04-10T09:03:12.969068+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GM2-gangliosidosis, several forms, MIM# 272800, Tay-Sachs disease, MIM# 272800, MONDO:0010100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2021-04-10T09:00:57.573476+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GUSB as ready",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2021-04-10T09:00:57.563488+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gusb has been classified as Green List (High Evidence).",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2021-04-10T09:00:53.334131+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GUSB were changed from to Mucopolysaccharidosis VII, MIM# 253220; MONDO:0009662",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2021-04-10T09:00:26.336271+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GUSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2021-04-10T08:59:59.411394+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220, MONDO:0009662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2021-04-10T08:59:24.018697+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GUSB as ready",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2021-04-10T08:59:24.006481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gusb has been classified as Green List (High Evidence).",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2021-04-10T08:59:17.363271+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GUSB were changed from to Mucopolysaccharidosis VII, MIM# 253220; MONDO:0009662",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2021-04-10T08:58:58.683489+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GUSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2021-04-10T08:58:41.027346+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220, MONDO:0009662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2021-04-10T08:57:55.171746+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GUSB as ready",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2021-04-10T08:57:55.160601+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gusb has been classified as Green List (High Evidence).",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2021-04-10T08:57:51.695517+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GUSB were changed from to Mucopolysaccharidosis VII, MIM# 253220; MONDO:0009662",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2021-04-10T08:57:19.540921+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GUSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2021-04-10T08:56:53.728357+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220, MONDO:0009662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2021-04-09T19:58:56.801513+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNS as ready",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2021-04-09T19:58:56.786553+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gns has been classified as Green List (High Evidence).",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2021-04-09T19:58:49.398750+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNS were changed from to Mucopolysaccharidosis type IIID, MIM# 252940; Sanfilippo syndrome type D, MONDO:0009658",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2021-04-09T19:58:29.889541+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNS were set to ",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2021-04-09T19:58:10.703751+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2021-04-09T19:57:52.301362+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12573255, 12624138, 31536183, 25851924; Phenotypes: Mucopolysaccharidosis type IIID, MIM# 252940, Sanfilippo syndrome type D, MONDO:0009658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2021-04-09T19:56:58.358033+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNS as ready",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2021-04-09T19:56:58.345340+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gns has been classified as Green List (High Evidence).",
"entity_name": "GNS",
"entity_type": "gene"
}
]
}