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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1354",
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"results": [
{
"created": "2021-04-14T08:33:30.787401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIA3 as Amber List (moderate evidence)",
"entity_name": "MIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T08:33:30.777585+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"
},
{
"created": "2021-04-14T08:33:08.056980+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 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.\r\n\r\nFour affected siblings reported. Mouse model has absence of bone mineralization. \nSources: Expert list; to: 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.\r\n\r\nFour affected siblings reported, homozygous variant affecting splicing. Mouse model has absence of bone mineralization. \r\nSources: Expert list",
"entity_name": "MIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T08:32:38.376809+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MIA3 was added\ngene: MIA3 was added to Mendeliome. 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\t, 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.\r\n\r\nFour affected siblings reported. Mouse model has absence of bone mineralization. \nSources: Expert list",
"entity_name": "MIA3",
"entity_type": "gene"
},
{
"created": "2021-04-13T21:10:37.707228+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFSD8 as ready",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-04-13T21:10:37.695701+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfsd8 has been classified as Green List (High Evidence).",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-04-13T21:10:34.765222+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; MONDO:0012588",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-04-13T21:10:11.007275+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MFSD8 were set to ",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-04-13T21:09:48.087012+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MFSD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-04-13T21:09:14.208703+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564970, 19201763; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951, MONDO:0012588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-04-13T21:07:42.934449+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFSD8 as ready",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-04-13T21:07:42.916571+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfsd8 has been classified as Green List (High Evidence).",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-04-13T21:07:28.253986+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; MONDO:0012588",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-04-13T21:06:36.110983+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MFSD8 were set to ",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-04-13T21:06:09.593942+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MFSD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-04-13T21:05:30.686480+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564970, 19201763; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951, MONDO:0012588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-04-13T21:04:09.227718+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MFSD8 were changed from Ceroid lipofuscinosis, neuronal, 7 610951; Macular dystrophy with central cone involvement 616170 to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; MONDO:0012588; Macular dystrophy with central cone involvement, MIM# 616170; MONDO:0014515",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-04-13T21:03:48.627102+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MFSD8 were set to 31006324",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-04-13T21:03:23.448696+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564970, 19201763, 25227500; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951, MONDO:0012588, Macular dystrophy with central cone involvement, MIM# 616170, MONDO:0014515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-04-13T21:02:23.040949+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFSD8 as ready",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-04-13T21:02:23.031560+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfsd8 has been classified as Green List (High Evidence).",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-04-13T21:02:08.989457+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; MONDO:0012588; Macular dystrophy with central cone involvement, MIM# 616170; MONDO:0014515",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-04-13T21:01:36.245605+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MFSD8 were set to ",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-04-13T21:01:03.353099+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MFSD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-04-13T21:00:37.811118+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564970, 19201763, 25227500; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951, MONDO:0012588, Macular dystrophy with central cone involvement, MIM# 616170, MONDO:0014515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-04-13T20:09:51.817501+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MCOLN1.",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2021-04-13T20:09:16.027905+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCOLN1 as ready",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2021-04-13T20:09:16.018710+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcoln1 has been classified as Green List (High Evidence).",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2021-04-13T20:09:07.330778+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCOLN1 were changed from to Mucolipidosis IV, MIM# 252650; MONDO:0009653",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2021-04-13T20:08:38.254018+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MCOLN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2021-04-13T20:07:50.143007+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis IV, MIM# 252650, MONDO:0009653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2021-04-13T19:07:48.039504+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCOLN1 as ready",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2021-04-13T19:07:48.015650+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcoln1 has been classified as Green List (High Evidence).",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2021-04-13T19:07:40.421758+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCOLN1 were changed from to Mucolipidosis IV, MIM# 252650; MONDO:0009653",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2021-04-13T19:07:19.700199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MCOLN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2021-04-13T19:06:59.211702+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MCOLN1.",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2021-04-13T19:06:46.598236+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis IV, MIM# 252650, MONDO:0009653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2021-04-13T19:06:22.049524+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV, MIM# 252650 to Mucolipidosis IV, MIM# 252650; MONDO:0009653",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2021-04-13T19:05:26.645256+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCOLN1 as ready",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2021-04-13T19:05:26.634157+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcoln1 has been classified as Green List (High Evidence).",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2021-04-13T19:05:23.505973+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCOLN1 were changed from to Mucolipidosis IV, MIM# 252650",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2021-04-13T19:04:57.388920+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MCOLN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2021-04-13T19:04:28.430187+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MCOLN1.",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2021-04-13T19:04:20.512105+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis IV, MIM# 252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2021-04-13T19:00:29.909398+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MANBA as ready",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2021-04-13T19:00:29.899163+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: manba has been classified as Green List (High Evidence).",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2021-04-13T19:00:24.778975+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MANBA were changed from to Mannosidosis, beta, MIM# 248510; MONDO:0009562",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:59:56.456845+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MANBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:59:22.784260+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MANBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, beta, MIM# 248510, MONDO:0009562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:58:40.143331+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MANBA as ready",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:58:40.132251+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: manba has been classified as Green List (High Evidence).",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:58:32.706125+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MANBA were changed from to Mannosidosis, beta, MIM# 248510; MONDO:0009562",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:58:10.729006+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MANBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:57:51.495197+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MANBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, beta, MIM# 248510, MONDO:0009562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:57:10.939748+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MANBA as ready",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:57:10.927273+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: manba has been classified as Green List (High Evidence).",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:57:06.507468+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MANBA were changed from to Mannosidosis, beta, MIM# 248510; MONDO:0009562",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:56:02.545925+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MANBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:55:34.092738+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MANBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, beta, MIM# 248510, MONDO:0009562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:53:17.123770+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAN2B1 as ready",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:53:17.111240+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2b1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:53:09.265037+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAN2B1 were changed from to Mannosidosis, alpha-, types I and II, MIM# 248500; MONDO:0009561",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:52:43.873410+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAN2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:52:18.572730+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, MIM# 248500, MONDO:0009561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:51:38.688833+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAN2B1 as ready",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:51:38.679060+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2b1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:51:34.190322+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAN2B1 were changed from to Mannosidosis, alpha-, types I and II, MIM# 248500; MONDO:0009561",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:50:59.513883+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAN2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:50:24.181469+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, MIM# 248500, MONDO:0009561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:49:08.699672+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAN2B1 as ready",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:49:08.688273+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2b1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:48:59.676879+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAN2B1 were changed from to Mannosidosis, alpha-, types I and II, MIM# 248500; MONDO:0009561",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:48:37.340297+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAN2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:48:18.940971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, MIM# 248500, MONDO:0009561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:47:21.041291+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAN2B1 as ready",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:47:21.026755+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2b1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:47:12.976104+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAN2B1 were changed from to Mannosidosis, alpha-, types I and II, MIM# 248500; MONDO:0009561",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:46:40.229782+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAN2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-04-13T18:46:04.557565+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, MIM# 248500, MONDO:0009561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-04-13T17:17:41.948948+10:00",
"panel_name": "Immunological disorders_SuperPanel",
"panel_id": 239,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Susceptibility to Fungal Infections; Combined Immunodeficiency; Systemic Autoinflammatory Disease_Periodic Fever; Common Variable Immunodeficiency; Disorders of immune dysregulation; Defects of innate immunity; Susceptibility to Viral Infections; Predominantly Antibody Deficiency; Inflammatory bowel disease; Phagocyte Defects; Complement Deficiencies; Severe Combined Immunodeficiency (absent T present B cells); Hyper-IgE syndrome; Severe Combined Immunodeficiency (absent T absent B cells); Mendelian susceptibility to Immune Disorders; Hereditary angioedema\nPanel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-04-13T14:04:50.719049+10:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.13",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: L1CAM as ready",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:04:50.705049+10:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.13",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: l1cam has been classified as Green List (High Evidence).",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:04:41.453699+10:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.13",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 15148591, 9279760, 11857550, 22344793, 11897831; Phenotypes: Hirschsprung disease in L1CAM syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2021-04-13T13:30:47.316434+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIPA as ready",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2021-04-13T13:30:47.305518+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lipa has been classified as Green List (High Evidence).",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2021-04-13T13:30:40.367930+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIPA were changed from to Cholesteryl ester storage disease, MIM# 278000; Wolman disease, MIM# 278000; Lysosomal acid lipase deficiency, MONDO:0010204",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2021-04-13T13:30:22.649951+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIPA were set to ",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2021-04-13T13:30:05.508333+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2021-04-13T13:29:47.806586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11487567; Phenotypes: Cholesteryl ester storage disease, MIM# 278000, Wolman disease, MIM# 278000, Lysosomal acid lipase deficiency, MONDO:0010204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2021-04-13T13:28:56.236263+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIPA as ready",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2021-04-13T13:28:56.218470+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lipa has been classified as Green List (High Evidence).",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2021-04-13T13:28:53.913339+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIPA were changed from to Cholesteryl ester storage disease, MIM# 278000; Wolman disease, MIM# 278000; Lysosomal acid lipase deficiency, MONDO:0010204",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2021-04-13T13:28:27.608575+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIPA were set to ",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2021-04-13T13:27:56.405957+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2021-04-13T13:27:30.092628+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11487567; Phenotypes: Cholesteryl ester storage disease, MIM# 278000, Wolman disease, MIM# 278000, Lysosomal acid lipase deficiency, MONDO:0010204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2021-04-13T13:23:39.584021+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LAMP2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2021-04-13T13:23:25.338794+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: XLD. Vacuolar cardiomyopathy and myopathy. Gene encodes lysosome-associated membrane protein-2.; to: XLD. Gene encodes lysosome-associated membrane protein-2.\r\n\r\nDanon disease is an X-linked dominant disorder predominantly affecting cardiac muscle. Skeletal muscle involvement and mental retardation are variable features. The accumulation of glycogen in muscle and lysosomes originally led to the classification of Danon disease as a variant of glycogen storage disease II (Pompe disease) with 'normal acid maltase' or alpha-glucosidase, however, it may be more accurately classified as a lysosomal disorder.",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2021-04-13T13:22:57.468726+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: XLD. Vacuolar cardiomyopathy and myopathy. Gene encodes lysosome-associated membrane protein-2.; to: XLD. Gene encodes lysosome-associated membrane protein-2.\r\n\r\nDanon disease is an X-linked dominant disorder predominantly affecting cardiac muscle. Skeletal muscle involvement and mental retardation are variable features. The accumulation of glycogen in muscle and lysosomes originally led to the classification of Danon disease as a variant of glycogen storage disease II (Pompe disease) with 'normal acid maltase' or alpha-glucosidase, however, it may be more accurately classified as a lysosomal disorder.",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2021-04-13T13:21:06.293747+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMP2 as ready",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2021-04-13T13:21:06.281309+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamp2 has been classified as Green List (High Evidence).",
"entity_name": "LAMP2",
"entity_type": "gene"
}
]
}