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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=867",
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"results": [
{
"created": "2022-04-30T17:46:38.434835+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B4GALT1 were set to ",
"entity_name": "B4GALT1",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:46:16.597573+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B4GALT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B4GALT1",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:45:58.155500+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Intellectual disability is part of CDG, although non-neurological forms of this CDG have been described. \nSources: Expert list; to: At least 3 unrelated families.\r\nSources: Expert list",
"entity_name": "B4GALT1",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:44:17.890084+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B4GALNT1 as ready",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:44:17.875169+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b4galnt1 has been classified as Green List (High Evidence).",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:44:09.551763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B4GALNT1 were changed from to Spastic paraplegia 26, autosomal recessive (MIM #609195)",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:43:49.044156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B4GALNT1 were set to 23746551 24103911",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:42:02.203368+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B4GALNT1 were set to ",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:41:41.170217+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B4GALNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:41:16.088933+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746551 24103911; Phenotypes: Spastic paraplegia 26, autosomal recessive (MIM #609195); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:39:47.031644+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B3GLCT as ready",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:39:47.018675+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3glct has been classified as Green List (High Evidence).",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:39:37.996914+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B3GLCT were changed from to Peters-plus syndrome, MIM#261540",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:39:17.069482+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B3GLCT were set to ",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:38:55.707285+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B3GLCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:38:33.409919+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B3GLCT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18798333, 19796186, 32533185, 32204707, 31795264; Phenotypes: Peters-plus syndrome, MIM#261540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:36:02.228847+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOA5 as ready",
"entity_name": "APOA5",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:36:02.214032+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apoa5 has been classified as Green List (High Evidence).",
"entity_name": "APOA5",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:34:24.357573+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP1S2 as ready",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:34:24.340783+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap1s2 has been classified as Green List (High Evidence).",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:34:20.622524+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP1S2 were changed from to Pettigrew syndrome, MIM# 304340",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:33:44.644587+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP1S2 were set to ",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:25:50.045257+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP1S2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:25:12.525027+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP1S2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17186471, 17617514, 19377476, 30714330, 23756445; Phenotypes: Pettigrew syndrome, MIM# 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:24:26.031017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, MIM#304340 to Pettigrew syndrome, MIM# 304340",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:24:03.436735+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP1S2 were set to ",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:23:40.356045+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP1S2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17186471, 17617514, 19377476, 30714330, 23756445; Phenotypes: Pettigrew syndrome, MIM# 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:20:35.965241+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APCDD1 as ready",
"entity_name": "APCDD1",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:20:35.954966+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apcdd1 has been classified as Green List (High Evidence).",
"entity_name": "APCDD1",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:20:20.325496+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APCDD1 were changed from to Hypotrichosis 1, MIM#605389",
"entity_name": "APCDD1",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:19:59.215760+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APCDD1 were set to ",
"entity_name": "APCDD1",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:19:39.497620+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: APCDD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APCDD1",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:19:19.766224+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: APCDD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypotrichosis 1, MIM#605389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APCDD1",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:17:22.338395+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANO10 were changed from Spinocerebellar ataxia, autosomal recessive 10 MIM#613728 to Spinocerebellar ataxia, autosomal recessive 10, MIM#613728",
"entity_name": "ANO10",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:17:07.221028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANO10 were set to ",
"entity_name": "ANO10",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:16:44.442012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANO10: Rating: GREEN; Mode of pathogenicity: None; Publications: 21092923, 25182700; Phenotypes: Spinocerebellar ataxia, autosomal recessive 10, MIM#613728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANO10",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:15:09.370330+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHOX2B as ready",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:15:09.347232+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phox2b has been classified as Green List (High Evidence).",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:15:00.024691+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHOX2B were changed from to Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease - MIM#209880; Neuroblastoma with Hirschsprung disease - MIM#613013",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:14:40.630631+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHOX2B were set to ",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:14:20.722141+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHOX2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:13:37.826894+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX26 as ready",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:13:37.814464+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex26 has been classified as Green List (High Evidence).",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:13:29.194117+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX26 were changed from to Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872; Peroxisome biogenesis disorder 7B - MIM#614873",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:13:08.247063+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX26 were set to ",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:12:47.600826+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:12:13.926323+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX2 as ready",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:12:13.913111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex2 has been classified as Green List (High Evidence).",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:11:50.289937+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX2 were changed from to Peroxisome biogenesis disorder 5A (Zellweger) - MIM#614866; Peroxisome biogenesis disorder 5B - MIM#614867",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:11:28.082507+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX2 were set to ",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:11:07.367653+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:10:24.873647+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX19 as ready",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:10:24.863718+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex19 has been classified as Green List (High Evidence).",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2022-04-30T17:09:52.808542+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX19 were changed from to Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:25:50.823453+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX16 as ready",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:25:50.812740+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex16 has been classified as Green List (High Evidence).",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:25:42.231405+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX16 were changed from to Peroxisome biogenesis disorder 8A (Zellweger) - MIM#614876; Peroxisome biogenesis disorder 8B - MIM#614877",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:25:21.462715+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX16 were set to ",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:25:00.577035+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:21:38.879136+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX14 as ready",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:21:38.867006+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex14 has been classified as Green List (High Evidence).",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:21:29.929621+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX14 were changed from to Peroxisome biogenesis disorder 13A (Zellweger) - MIM#614887",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:20:53.547422+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX14 were set to ",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:20:34.069111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:20:02.328739+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX13 as ready",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:20:02.317687+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex13 has been classified as Green List (High Evidence).",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:19:52.518804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX13 were changed from to Peroxisome biogenesis disorder 11A (Zellweger) - MIM#614883; Peroxisome biogenesis disorder 11B - MIM#614885",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:19:30.878343+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:18:57.238765+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX12 as ready",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:18:57.229039+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex12 has been classified as Green List (High Evidence).",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:18:44.644680+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX12 were changed from to Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859; Peroxisome biogenesis disorder 3B - MIM#266510",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:14:26.320039+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:12:02.832401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ENTPD1 were set to 24482476; 30652007",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:11:39.707434+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: ENTPD1: PMID 35471564: 27 individuals from 17 families published, expanding the phenotype to a complex neurodevelopmental disorder characterised by ID, white matter abnormalities and spastic paraplegia.",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:11:19.465876+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ENTPD1: Changed publications: 24482476, 30652007, 35471564",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:10:42.070203+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENTPD1 as ready",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:10:42.059787+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: entpd1 has been classified as Green List (High Evidence).",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:10:38.397682+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ENTPD1 as Green List (high evidence)",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:10:38.384293+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: entpd1 has been classified as Green List (High Evidence).",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:10:23.264130+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ENTPD1 was added\ngene: ENTPD1 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ENTPD1 were set to 35471564\nPhenotypes for gene: ENTPD1 were set to Spastic paraplegia 64, autosomal recessive, MIM# 615683\nReview for gene: ENTPD1 was set to GREEN\nAdded comment: 27 individuals from 17 families published, expanding the phenotype to a complex neurodevelopmental disorder characterised by ID, white matter abnormalities and spastic paraplegia. \nSources: Literature",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:10:03.871706+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENTPD1 as ready",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:10:03.858876+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: entpd1 has been classified as Green List (High Evidence).",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:10:02.741807+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ENTPD1 as Green List (high evidence)",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:10:02.724357+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: entpd1 has been classified as Green List (High Evidence).",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:09:14.431271+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ENTPD1 was added\ngene: ENTPD1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ENTPD1 were set to 35471564\nPhenotypes for gene: ENTPD1 were set to Spastic paraplegia 64, autosomal recessive, MIM#\t615683\nReview for gene: ENTPD1 was set to GREEN\nAdded comment: 27 individuals from 17 families published, expanding the phenotype to a complex neurodevelopmental disorder characterised by ID, white matter abnormalities and spastic paraplegia. \nSources: Literature",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:06:19.155036+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ENTPD1 were set to 24482476; 30652007",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:05:04.322101+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPH1 as ready",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:05:04.308808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rsph1 has been classified as Green List (High Evidence).",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:04:56.384610+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPH1 were changed from to Ciliary dyskinesia, primary, 24 MIM#615481",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:04:35.321518+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPH1 were set to ",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:04:15.065056+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RSPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:02:34.543854+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNGB1 as ready",
"entity_name": "CNGB1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:02:34.525205+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cngb1 has been classified as Green List (High Evidence).",
"entity_name": "CNGB1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:02:25.753198+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNGB1 were changed from Retinitis pigmentosa 45, 613767 to Retinitis pigmentosa 45, MIM#613767",
"entity_name": "CNGB1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:02:17.414650+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNGB1 were set to ",
"entity_name": "CNGB1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:02:03.140459+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNGB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11379879, 15557452, 23661369, 33847019; Phenotypes: Retinitis pigmentosa 45 MIM#613767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNGB1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:00:48.794077+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNGA1 as ready",
"entity_name": "CNGA1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:00:48.779848+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnga1 has been classified as Green List (High Evidence).",
"entity_name": "CNGA1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:00:42.153632+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNGA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNGA1",
"entity_type": "gene"
},
{
"created": "2022-04-29T18:00:16.093077+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNGA1 were set to ",
"entity_name": "CNGA1",
"entity_type": "gene"
}
]
}