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"count": 221413,
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"results": [
{
"created": "2024-11-14T13:10:39.753374+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6696",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNPLA6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:10:38.907591+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6696",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PNPLA6 as ready",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:10:38.893485+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6696",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pnpla6 has been classified as Green List (High Evidence).",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:10:14.371959+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6696",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA6 were changed from to retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:09:42.252687+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6696",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PNPLA6 were set to ",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:09:10.333497+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6696",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNPLA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:08:06.659483+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6695",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25299038; Phenotypes: retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:06:55.215615+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6695",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:06:04.760616+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6695",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PMM2 were set to 20301289",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:05:30.023104+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6695",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PMM2 were changed from Congenital disorder of glycosylation, type Ia MIM#212065 to Congenital disorder of glycosylation, type Ia MIM#212065",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:04:54.614994+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6695",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:04:17.275463+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6695",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PMM2 were changed from Congenital disorder of glycosylation, type Ia MIM#212065 to Congenital disorder of glycosylation, type Ia MIM#212065",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:03:54.963696+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6695",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PMM2 as ready",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:03:54.936100+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6695",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pmm2 has been classified as Green List (High Evidence).",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:03:35.329694+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6695",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:02:48.400834+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6694",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:02:01.168965+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6694",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia MIM#212065",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:01:03.408600+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6694",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PMM2 were set to ",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:00:17.096326+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6693",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PLA2G6 were changed from Infantile neuroaxonal dystrophy 1 MIM#256600; Neurodegeneration with brain iron accumulation 2B MIM#610217 to Infantile neuroaxonal dystrophy 1 MIM#256600; Neurodegeneration with brain iron accumulation 2B MIM#610217",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:59:34.730519+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6693",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PLA2G6 were set to 20301718",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:59:18.648050+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6692",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PLA2G6 as ready",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:59:18.631512+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6692",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pla2g6 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:59:06.189864+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6692",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PLA2G6 were changed from to Infantile neuroaxonal dystrophy 1 MIM#256600; Neurodegeneration with brain iron accumulation 2B MIM#610217",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:59:04.539993+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6692",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301289; Phenotypes: Congenital disorder of glycosylation, type Ia MIM#212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:58:27.704824+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6692",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PLA2G6 were set to ",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:57:58.499156+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6692",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLA2G6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:57:00.329374+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6691",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301718; Phenotypes: nfantile neuroaxonal dystrophy 1 MIM#256600, Neurodegeneration with brain iron accumulation 2B MIM#610217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:56:58.177395+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6691",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PIK3CA as ready",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:56:58.165431+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6691",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pik3ca has been classified as Green List (High Evidence).",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:56:44.422902+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6691",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3CA were changed from PIK3CA-related overgrowth spectrum MONDO:1040002 to PIK3CA-related overgrowth spectrum MONDO:1040002",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:56:18.355420+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6691",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PIK3CA were set to 23946963",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:55:52.565211+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6691",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3CA were changed from PIK3CA-related overgrowth spectrum MONDO:1040002 to PIK3CA-related overgrowth spectrum MONDO:1040002",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:55:19.058869+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6690",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3CA were changed from to PIK3CA-related overgrowth spectrum MONDO:1040002",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:54:54.824200+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6690",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PIK3CA were set to ",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:54:21.392329+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6690",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIK3CA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:53:20.468340+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6689",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23946963; Phenotypes: PIK3CA-related overgrowth spectrum MONDO:1040002; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:52:27.854346+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6689",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PHGDH were changed from Neu-Laxova syndrome 1 MIM#256520; Phosphoglycerate dehydrogenase deficiency MIM#601815 to Neu-Laxova syndrome 1 MIM#256520; Phosphoglycerate dehydrogenase deficiency MIM#601815",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:51:41.223428+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6688",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PHGDH as ready",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:51:41.182452+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6688",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: phgdh has been classified as Green List (High Evidence).",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:51:41.174415+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6689",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PHGDH were set to 37347880",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:51:15.656458+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6688",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PHGDH were changed from to Neu-Laxova syndrome 1 MIM#256520; Phosphoglycerate dehydrogenase deficiency MIM#601815",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:50:47.179937+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6688",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PHGDH were set to ",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:50:17.983006+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6688",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:48:49.360043+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6687",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 37347880; Phenotypes: Neu-Laxova syndrome 1 MIM#256520, Phosphoglycerate dehydrogenase deficiency MIM#601815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:47:38.130559+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6687",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PEX7 were changed from Peroxisome biogenesis disorder 9B MIM#614879; Rhizomelic chondrodysplasia punctata, type 1 MIM#215100 to Peroxisome biogenesis disorder 9B MIM#614879; Rhizomelic chondrodysplasia punctata, type 1 MIM#215100",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:47:14.646879+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6687",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PEX7 were set to 20301447",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:46:53.821230+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6686",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PEX7 as ready",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:46:53.806710+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6686",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pex7 has been classified as Green List (High Evidence).",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:46:38.237115+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6686",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PEX7 were changed from to Peroxisome biogenesis disorder 9B MIM#614879; Rhizomelic chondrodysplasia punctata, type 1 MIM#215100",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:46:10.116260+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6686",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PEX7 were set to ",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:45:42.266048+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6686",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:44:40.279893+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6685",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301447; Phenotypes: Peroxisome biogenesis disorder 9B MIM#614879, Rhizomelic chondrodysplasia punctata, type 1 MIM#215100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:39:14.504076+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6685",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PEX6 as ready",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:39:14.467756+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6685",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pex6 has been classified as Green List (High Evidence).",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:38:31.597346+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6685",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PEX6 were set to ",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:37:14.698291+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6684",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PEX6 were changed from to Peroxisome biogenesis disorder 4A (Zellweger) MIM#614862; Peroxisome biogenesis disorder 4B MIM#614863",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:36:52.440494+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6684",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: PEX6: Changed publications: 29220678, 20301621",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:36:32.526658+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6684",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:35:41.758407+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6683",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: PEX6: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:35:31.496059+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6683",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: PEX6: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:35:04.539991+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6683",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PEX5 were changed from Peroxisome biogenesis disorder 2A (Zellweger) MIM#214110; Peroxisome biogenesis disorder 2B MIM#202370 to Peroxisome biogenesis disorder 2A (Zellweger) MIM#214110; Peroxisome biogenesis disorder 2B MIM#202370",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:34:58.315718+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6683",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PEX5 as ready",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:34:58.289737+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6683",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pex5 has been classified as Green List (High Evidence).",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:34:43.872444+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6683",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 4A (Zellweger) MIM#614862, Peroxisome biogenesis disorder 4B MIM#614863; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:34:37.629897+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6683",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:34:12.425336+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6683",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PEX5 were set to 20301621",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:33:49.359227+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6682",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PEX5 were set to ",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:33:20.149349+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6682",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PEX5 were changed from to Peroxisome biogenesis disorder 2A (Zellweger) MIM#214110; Peroxisome biogenesis disorder 2B MIM#202370",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:32:47.283840+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6682",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:32:24.003852+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6682",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PEX3 as ready",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:32:23.988943+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6682",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pex3 has been classified as Green List (High Evidence).",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:32:21.196971+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6682",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PEX3 were changed from Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882; Peroxisome biogenesis disorder 10B , MIM# 617370 to Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882; Peroxisome biogenesis disorder 10B , MIM# 617370",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:31:40.226640+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6681",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PEX3 were changed from to Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882; Peroxisome biogenesis disorder 10B , MIM# 617370",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:31:34.888994+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6681",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301621; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger) MIM#214110, Peroxisome biogenesis disorder 2B MIM#202370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:31:14.734556+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6681",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PEX3 were set to ",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:30:50.560141+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6681",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:30:07.813248+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6680",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PEX26 as ready",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:30:07.801943+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6680",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pex26 has been classified as Green List (High Evidence).",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:30:02.952745+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6680",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10942428, 10958759, 10968777, 27557811, 33101983, 20301621; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882, Peroxisome biogenesis disorder 10B , MIM# 617370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:29:45.577086+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6680",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PEX26 were changed from Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872; Peroxisome biogenesis disorder 7B MIM614873 to Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872; Peroxisome biogenesis disorder 7B MIM614873",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:29:14.582763+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6679",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PEX26 were changed from to Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872; Peroxisome biogenesis disorder 7B MIM614873",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:28:49.412588+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6679",
"user_name": "Ain Roesley",
"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": "2024-11-14T12:28:25.077100+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6679",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PEX26 were set to ",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:27:54.678159+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6678",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PEX2 were changed from Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866; Peroxisome biogenesis disorder 5B MIM#614867 to Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866; Peroxisome biogenesis disorder 5B MIM#614867",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:27:46.477492+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6678",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:27:38.939627+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6678",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PEX2 as ready",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:27:38.926276+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6678",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pex2 has been classified as Green List (High Evidence).",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:27:27.286672+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6678",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PEX2 were set to 20301621",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:27:07.826533+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6677",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "commented on gene: PEX26: ID/DD is part of the Zellweger spectrum",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:27:00.159693+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6677",
"user_name": "Ain Roesley",
"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": "2024-11-14T12:26:36.890932+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6677",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PEX2 were set to ",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:26:20.972357+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6677",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301621; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872, Peroxisome biogenesis disorder 7B MIM614873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:26:13.932255+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6677",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:25:50.583179+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6677",
"user_name": "Ain Roesley",
"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": "2024-11-14T12:25:02.342354+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6676",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Few individuals reported with variants in PEX19 however,; to: ID/DD is part of the Zellweger spectrum",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:24:48.824944+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6676",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "commented on gene: PEX2: Few individuals reported with variants in PEX19 however,",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:24:39.854676+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6676",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301621; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866, Peroxisome biogenesis disorder 5B MIM#614867; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:24:37.001457+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6676",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PEX19 as ready",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:24:36.983916+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6676",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pex19 has been classified as Green List (High Evidence).",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:24:32.085586+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6676",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PEX19 were changed from Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886 to Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886",
"entity_name": "PEX19",
"entity_type": "gene"
}
]
}