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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1387",
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"results": [
{
"created": "2021-03-13T20:31:39.502006+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP4M1 were changed from to Spastic paraplegia 50, autosomal recessive, MIM# 612936",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:31:17.977403+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4M1 were set to ",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:30:59.468840+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP4M1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:30:36.692732+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 21937992, 21937992, 32979048, 31915823, 29096665, 28464862, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:28:19.768769+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4M1 as ready",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:28:19.754836+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4m1 has been classified as Green List (High Evidence).",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:28:15.013772+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP4M1 were changed from to Spastic paraplegia 50, autosomal recessive, MIM# 612936",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:27:47.443716+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4M1 were set to ",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:27:21.286001+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP4M1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:26:48.819865+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 21937992, 21937992, 32979048, 31915823, 29096665, 28464862, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:26:02.498738+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4M1 as ready",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:26:02.486163+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4m1 has been classified as Red List (Low Evidence).",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:25:54.418251+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP4M1 were changed from Spastic paraplegia 50, autosomal recessive to Spastic paraplegia 50, autosomal recessive, MIM#\t612936",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:25:25.264294+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4M1 were set to ",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:25:09.456085+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 21937992, 21937992, 32979048, 31915823, 29096665, 28464862, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:24:14.260953+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4M1 as ready",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:24:14.251139+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4m1 has been classified as Green List (High Evidence).",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:24:08.301649+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4M1 were set to ",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:23:51.858942+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 21937992, 21937992, 32979048, 31915823, 29096665, 28464862, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:20:09.378413+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4B1 as ready",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:20:09.368136+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4b1 has been classified as Green List (High Evidence).",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:19:59.699105+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP4B1 as Green List (high evidence)",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:19:59.687714+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4b1 has been classified as Green List (High Evidence).",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:19:44.486175+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP4B1 was added\ngene: AP4B1 was added to Additional findings_Paediatric. Sources: Expert Review\nMode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4B1 were set to 21620353; 22290197; 24700674; 24781758; 32979048; 32171285; 32166732; 31525725; 31525725\nPhenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, MIM# 614066\nReview for gene: AP4B1 was set to GREEN\nAdded comment: Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development. More than 10 unrelated families reported. \nSources: Expert Review",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:18:26.733936+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4E1 as ready",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:18:26.725973+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4e1 has been classified as Green List (High Evidence).",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:18:21.638047+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP4E1 as Green List (high evidence)",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:18:21.628833+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4e1 has been classified as Green List (High Evidence).",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:18:09.047220+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP4E1 was added\ngene: AP4E1 was added to Additional findings_Paediatric. Sources: Expert Review\nMode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4E1 were set to 20972249; 21620353; 21937992; 32979048; 23472171\nPhenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, MIM# 613744\nReview for gene: AP4E1 was set to GREEN\nAdded comment: Spastic paraplegia-51 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 5 unrelated families reported. \nSources: Expert Review",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:16:29.542216+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4E1 as ready",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:16:29.531589+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4e1 has been classified as Green List (High Evidence).",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:16:23.495186+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4E1 were set to ",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:16:06.781508+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20972249, 21620353, 21937992, 32979048, 23472171; Phenotypes: Spastic paraplegia 51, autosomal recessive, MIM# 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-03-13T18:28:49.369864+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4B1 as ready",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T18:28:49.358995+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4b1 has been classified as Red List (Low Evidence).",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T18:28:46.204849+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP4B1 were changed from to Spastic paraplegia 47, autosomal recessive, MIM# 614066",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T18:28:18.605072+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4B1 were set to ",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T18:27:48.351846+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP4B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T18:27:18.212544+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP4B1 as Red List (low evidence)",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T18:27:18.202290+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4b1 has been classified as Red List (Low Evidence).",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T18:26:49.704452+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4B1: Rating: RED; Mode of pathogenicity: None; Publications: 21620353, 22290197, 24700674, 24781758, 32979048, 32171285, 32166732, 31525725, 31525725; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T18:25:28.361235+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4B1 as ready",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T18:25:28.351767+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4b1 has been classified as Green List (High Evidence).",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T18:25:22.009733+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP4B1 were changed from to Spastic paraplegia 47, autosomal recessive, MIM# 614066",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T18:24:49.207872+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4B1 were set to ",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T18:24:15.257194+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP4B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T18:23:42.868870+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 22290197, 24700674, 24781758, 32979048, 32171285, 32166732, 31525725, 31525725; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T18:22:38.106654+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4B1 as ready",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T18:22:38.097993+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4b1 has been classified as Green List (High Evidence).",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T18:22:34.832794+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4B1 were set to ",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T18:22:20.713710+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 22290197, 24700674, 24781758, 32979048, 32171285, 32166732, 31525725, 31525725; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-03-13T16:08:51.297347+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTS13 as ready",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-03-13T16:08:51.285238+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts13 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-03-13T16:08:44.055798+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTS13 were changed from to Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-03-13T16:08:25.128834+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADAMTS13 were set to ",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-03-13T16:08:06.609250+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADAMTS13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-03-13T16:07:45.567393+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: None; Publications: 11586351, 30312976; Phenotypes: Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-03-13T16:07:08.533898+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADAMTS13 were set to 11586351",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-03-13T16:06:37.628688+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADAMTS13: Changed publications: 11586351, 30312976",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-03-13T16:04:59.836954+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADAMTS13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-03-13T16:04:31.320895+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADAMTS13: Changed phenotypes: Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:52:48.810912+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4S1 as ready",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:52:48.802343+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4s1 has been classified as Green List (High Evidence).",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:52:44.147411+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP4S1 were changed from to Spastic paraplegia 52, autosomal recessive, MIM# 614067",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:52:12.781933+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4S1 were set to ",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:51:41.415536+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP4S1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:51:02.077282+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 25552650, 32979048, 32216065, 31915823, 30283821, 27444738; Phenotypes: Spastic paraplegia 52, autosomal recessive, MIM# 614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:50:24.189963+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4S1 as ready",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:50:24.182675+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4s1 has been classified as Green List (High Evidence).",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:50:16.961082+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP4S1 were changed from to Spastic paraplegia 52, autosomal recessive, MIM# 614067",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:49:58.419762+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4S1 were set to ",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:49:39.227511+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP4S1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:49:21.067671+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 25552650, 32979048, 32216065, 31915823, 30283821, 27444738; Phenotypes: Spastic paraplegia 52, autosomal recessive, MIM# 614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:48:22.909694+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4S1 as ready",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:48:22.896212+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4s1 has been classified as Green List (High Evidence).",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:48:13.248799+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4S1 were set to ",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:47:59.007486+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 25552650, 32979048, 32216065, 31915823, 30283821, 27444738; Phenotypes: Spastic paraplegia 52, autosomal recessive, MIM# 614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:43:54.027780+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARG1 as ready",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:43:54.018872+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arg1 has been classified as Green List (High Evidence).",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:43:50.667312+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARG1 were set to ",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:43:01.829347+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIMP1 as ready",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:43:01.820742+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aimp1 has been classified as Red List (Low Evidence).",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:42:54.269915+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AIMP1 was added\ngene: AIMP1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AIMP1 were set to 30924036\nPhenotypes for gene: AIMP1 were set to Pontocerebellar hypoplasia\nReview for gene: AIMP1 was set to RED\nAdded comment: Single individual reported with homozygous frameshift variant and PCH/simplified gyral pattern.\r\n\r\nNote bi-allelic variants in this gene are typically associated with hypomyelinating leukodystrophy/neurodegeneration. \nSources: Literature",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:40:04.587847+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIMP1 as ready",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:40:04.575604+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aimp1 has been classified as Green List (High Evidence).",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:39:54.084735+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AIMP1 as Green List (high evidence)",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:39:54.074007+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aimp1 has been classified as Green List (High Evidence).",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:39:26.257645+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AIMP1 was added\ngene: AIMP1 was added to Regression. Sources: Expert Review\nMode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AIMP1 were set to 21092922; 24958424; 33402283; 32531460; 30486714; 30477741\nPhenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3, MIM# 260600\nReview for gene: AIMP1 was set to GREEN\nAdded comment: Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. Abnormal nerve conduction demonstrated. More than 10 families reported.\r\n\r\nNeurodegeneration is a feature. \nSources: Expert Review",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:37:55.454700+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIMP1 as ready",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:37:55.439740+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aimp1 has been classified as Green List (High Evidence).",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:37:52.788746+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AIMP1 were changed from to Leukodystrophy, hypomyelinating, 3, MIM# 260600",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:37:24.561574+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AIMP1 were set to ",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:36:52.928337+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AIMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:36:23.364365+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21092922, 24958424, 33402283, 32531460, 30486714, 30477741; Phenotypes: Leukodystrophy, hypomyelinating, 3, MIM# 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:35:20.891406+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIMP1 as ready",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:35:20.880710+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aimp1 has been classified as Green List (High Evidence).",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:34:55.236244+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AIMP1 were changed from to Intellectual disability; Leukodystrophy, hypomyelinating, 3, MIM# 260600",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:34:13.875584+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AIMP1 were set to ",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:33:40.811689+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AIMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:31:42.454080+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26173967, 21092922, 24958424, 33402283, 32531460, 30486714, 30477741; Phenotypes: Intellectual disability, Leukodystrophy, hypomyelinating, 3, MIM# 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AIMP1",
"entity_type": "gene"
}
]
}