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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1630",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1628",
"results": [
{
"created": "2020-08-29T14:41:06.695400+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28493438, 25817015; Phenotypes: Epileptic encephalopathy, early infantile, 29, MIM# 616339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:40:20.892371+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AARS as ready",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:40:20.881938+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aars has been classified as Green List (High Evidence).",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:40:17.637260+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AARS were set to ",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:40:05.918702+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28493438, 25817015; Phenotypes: Epileptic encephalopathy, early infantile, 29, MIM# 616339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:39:22.236748+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AARS as ready",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:39:22.227324+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aars has been classified as Green List (High Evidence).",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:38:54.698197+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AARS were changed from to Epileptic encephalopathy, early infantile, 29, MIM# 616339",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:37:55.323336+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AARS were set to ",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:37:41.165680+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AARS was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:37:23.012986+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:36:53.183172+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28493438, 25817015; Phenotypes: Epileptic encephalopathy, early infantile, 29, MIM# 616339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:31:17.512220+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AAGAB as ready",
"entity_name": "AAGAB",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:31:17.503974+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aagab has been classified as Green List (High Evidence).",
"entity_name": "AAGAB",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:31:06.378474+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AAGAB were changed from to Keratoderma, palmoplantar, punctate type IA (MIM#148600)",
"entity_name": "AAGAB",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:30:50.134700+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AAGAB were set to ",
"entity_name": "AAGAB",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:30:33.769882+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AAGAB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AAGAB",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:30:17.388064+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AAGAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30451279, 26608363; Phenotypes: Keratoderma, palmoplantar, punctate type IA (MIM#148600); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AAGAB",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:28:47.897423+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: A4GALT as ready",
"entity_name": "A4GALT",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:28:47.888986+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: a4galt has been classified as Red List (Low Evidence).",
"entity_name": "A4GALT",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:28:41.249014+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: A4GALT were changed from to [Blood group, P1Pk system, p phenotype], MIM# 111400",
"entity_name": "A4GALT",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:28:28.505345+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: A4GALT as Red List (low evidence)",
"entity_name": "A4GALT",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:28:28.496422+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: a4galt has been classified as Red List (Low Evidence).",
"entity_name": "A4GALT",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:28:13.635776+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: A4GALT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, P1Pk system, p phenotype], MIM# 111400; Mode of inheritance: None",
"entity_name": "A4GALT",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:23:05.119554+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RELN as ready",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:23:05.103690+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: reln has been classified as Green List (High Evidence).",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:23:02.453211+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RELN were changed from to {Epilepsy, familial temporal lobe, 7}, MIM# 616436; MONDO:0014639",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:22:40.110973+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RELN were set to ",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:22:14.625130+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RELN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:21:50.410076+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: 28142128; Phenotypes: {Epilepsy, familial temporal lobe, 7}, MIM# 616436, MONDO:0014639; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:17:12.128520+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RELN as ready",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:17:12.118528+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: reln has been classified as Green List (High Evidence).",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:17:10.108318+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RELN were changed from to Lissencephaly 2 (Norman-Roberts type), MIM# 257320",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:16:44.613398+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RELN were set to ",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:16:17.961661+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RELN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:15:52.981960+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973257, 29671837, 31805691; Phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:05:00.272764+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMB1 as ready",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:05:00.263580+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamb1 has been classified as Green List (High Evidence).",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2020-08-29T14:04:15.747736+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: PAFAH1B1.",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:50:36.793386+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAFAH1B1 as ready",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:50:36.784845+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pafah1b1 has been classified as Green List (High Evidence).",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:50:34.513082+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAFAH1B1 were changed from to Lissencephaly 1, MIM# 607432; Subcortical laminar heterotopia, MIM# 607432; MONDO:0011830",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:50:08.229223+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAFAH1B1 were set to ",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:49:43.486890+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAFAH1B1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:49:15.717451+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAFAH1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11754098, 18285425; Phenotypes: Lissencephaly 1, MIM# 607432, Subcortical laminar heterotopia, MIM# 607432, MONDO:0011830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:47:47.359718+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAFAH1B1 as ready",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:47:47.349892+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pafah1b1 has been classified as Green List (High Evidence).",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:47:44.749560+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAFAH1B1 were changed from to Lissencephaly 1, MIM# 607432; Subcortical laminar heterotopia, MIM# 607432; MONDO:0011830",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:47:20.329281+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAFAH1B1 were set to ",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:46:54.628414+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAFAH1B1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:46:33.275452+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: PAFAH1B1.",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:46:24.051168+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAFAH1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11754098, 18285425; Phenotypes: Lissencephaly 1, MIM# 607432, Subcortical laminar heterotopia, MIM# 607432, MONDO:0011830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:45:11.858054+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAFAH1B1 as ready",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:45:11.847456+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pafah1b1 has been classified as Green List (High Evidence).",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:45:08.023524+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAFAH1B1 were changed from to Lissencephaly 1, MIM# 607432; Subcortical laminar heterotopia, MIM# 607432; MONDO:0011830",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:44:39.216568+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAFAH1B1 were set to ",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:44:06.207107+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAFAH1B1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:43:37.197769+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: PAFAH1B1.",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:43:26.759109+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAFAH1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11754098, 18285425; Phenotypes: Lissencephaly 1, MIM# 607432, Subcortical laminar heterotopia, MIM# 607432, MONDO:0011830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:42:52.315496+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAFAH1B1 as ready",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:42:52.307082+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pafah1b1 has been classified as Green List (High Evidence).",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:42:48.514385+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: PAFAH1B1.",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:42:20.964654+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAFAH1B1 were changed from to Lissencephaly 1, MIM# 607432; Subcortical laminar heterotopia, MIM# 607432; MONDO:0011830",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:41:59.921923+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAFAH1B1 were set to ",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:41:42.994761+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAFAH1B1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:41:13.740566+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAFAH1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11754098, 18285425; Phenotypes: Lissencephaly 1, MIM# 607432, Subcortical laminar heterotopia, MIM# 607432, MONDO:0011830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:41:00.354621+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: PAFAH1B1.",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:40:32.675129+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAFAH1B1 as ready",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:40:32.664553+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pafah1b1 has been classified as Green List (High Evidence).",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:40:26.289162+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAFAH1B1 were changed from to Lissencephaly 1, MIM# 607432; Subcortical laminar heterotopia, MIM# 607432; MONDO:0011830",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:40:02.755588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAFAH1B1 were set to ",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:39:35.680003+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAFAH1B1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:39:19.029345+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAFAH1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11754098, 18285425; Phenotypes: Lissencephaly 1, MIM# 607432, Subcortical laminar heterotopia, MIM# 607432, MONDO:0011830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:38:05.023318+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Lissencephaly due to PAFAH1B1 (prev known as LIS1) mutation is a cerebral malformation with epilepsy characterised predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.; to: Lissencephaly due to PAFAH1B1 (prev known as LIS1) mutation is a cerebral malformation with epilepsy characterised predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia. Note deletions are common.",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:37:45.530623+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAFAH1B1 as ready",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:37:45.521852+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pafah1b1 has been classified as Green List (High Evidence).",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:37:40.113892+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: PAFAH1B1.",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:37:32.795652+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAFAH1B1 were changed from to Lissencephaly 1, MIM# 607432; Subcortical laminar heterotopia, MIM# 607432; MONDO:0011830",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:37:05.768862+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAFAH1B1 were set to ",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:36:40.764519+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAFAH1B1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:35:59.139207+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAFAH1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11754098, 18285425; Phenotypes: Lissencephaly 1, MIM# 607432, Subcortical laminar heterotopia, MIM# 607432, MONDO:0011830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:26:58.624719+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARGE1 as ready",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:26:58.615548+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: large1 has been classified as Green List (High Evidence).",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:26:56.281895+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:26:30.886389+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:25:55.974467+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:20:45.175160+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMB1 as ready",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:20:45.166478+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamb1 has been classified as Green List (High Evidence).",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:20:38.771623+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMB1 were changed from to Lissencephaly 5, MIM# 615191; Cystic leukoencephalopathy",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:20:21.816877+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMB1 were set to ",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:20:02.640023+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:19:45.195169+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23472759, 25925986, 29888467, 25925986, 32548278; Phenotypes: Lissencephaly 5, MIM# 615191, Cystic leukoencephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:18:05.386376+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMB1 were changed from to Lissencephaly 5, MIM# 615191",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:17:44.907839+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMB1 were set to ",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:16:28.119249+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:16:00.920952+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23472759, 25925986, 29888467; Phenotypes: Lissencephaly 5, MIM# 615191; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:11:54.256862+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM5 as ready",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:11:54.248539+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem5 has been classified as Green List (High Evidence).",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:11:51.762315+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM5 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2020-08-29T13:11:28.106905+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM5 were set to ",
"entity_name": "TMEM5",
"entity_type": "gene"
}
]
}