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{
"count": 220403,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=954",
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"results": [
{
"created": "2022-03-03T09:10:29.945606+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX10 were changed from ZELLWEGER SYNDROME; ADRENOLEUKODYSTROPHY NEONATAL; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 to Peroxisome biogenesis disorder 6A (Zellweger), MIM# 614870",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2022-03-03T09:10:14.833307+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX10 were set to ",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2022-03-03T09:09:59.879775+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger), MIM# 614870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2022-03-03T09:08:58.324386+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX11B as ready",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-03-03T09:08:58.313946+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex11b has been classified as Green List (High Evidence).",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-03-03T09:08:51.444722+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX11B were changed from Peroxisome biogenesis disorder 14B to Peroxisome biogenesis disorder 14B, MIM# 614920",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-03-03T09:08:28.438133+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX11B were set to ",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-03-03T09:08:10.338521+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Congenital cataracts.; to: Congenital cataracts. Three families altogether, two published, and one internal.",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-03-03T09:07:52.424111+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PEX11B: Changed rating: GREEN; Changed publications: 31724321",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-03-03T09:06:40.685046+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PEX11B: Changed rating: AMBER",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-03-03T09:06:22.405854+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PEX11B: Added comment: Congenital cataracts.; Changed rating: GREEN; Changed phenotypes: Peroxisome biogenesis disorder 14B, MIM# 614920; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-03-03T09:04:48.231417+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX12 as ready",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2022-03-03T09:04:48.219477+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4626",
"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": "2022-03-03T09:03:27.876525+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX12 were changed from ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3 to Peroxisome biogenesis disorder 3A (Zellweger), MIM# 614859",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2022-03-03T09:03:03.444977+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX12 were set to ",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:56:57.113269+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A (Zellweger), MIM# 614859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:54:50.245006+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX13 as ready",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:54:50.235156+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4624",
"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": "2022-03-03T08:54:43.094107+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX13 were changed from PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13; ADRENOLEUKODYSTROPHY NEONATAL to Peroxisome biogenesis disorder 11A (Zellweger), MIM# 614883",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:54:29.332613+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX13 were set to ",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:54:13.779733+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger), MIM# 614883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:52:30.429023+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX14 as ready",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:52:30.417605+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4622",
"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": "2022-03-03T08:52:26.484764+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX14 were changed from ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K to Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:52:12.222129+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX14 were set to ",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:51:48.693908+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 26627464; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:46:02.935575+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX16 as ready",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:46:02.926139+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4620",
"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": "2022-03-03T08:45:58.939219+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX16 were changed from ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 to Peroxisome biogenesis disorder 8A (Zellweger), MIM# 614876",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:40:08.036675+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX16 were set to ",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:39:53.312138+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger), MIM# 614876; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:38:32.547136+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, congenital anomalies at the severe end of the spectrum.",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:37:45.743922+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMGNT1 as ready",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:37:45.731858+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomgnt1 has been classified as Green List (High Evidence).",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:37:42.121368+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT1 were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, 253280",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:35:24.903908+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX19 as ready",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:35:24.893567+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4617",
"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": "2022-03-03T08:35:20.707121+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX19 were changed from ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14 to Peroxisome biogenesis disorder 12A (Zellweger), MIM# 614886",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:35:05.148222+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX19 were set to ",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:34:50.599963+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger), MIM# 614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:33:24.086982+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX2 as ready",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:33:24.077856+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4615",
"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": "2022-03-03T08:33:20.352973+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX2 were changed from ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5 to Peroxisome biogenesis disorder 5A (Zellweger), MIM# 614866",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:33:05.816803+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX2 were set to ",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2022-03-03T08:32:51.499230+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger), MIM# 614866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2022-03-02T21:00:10.425556+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX26 as ready",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2022-03-02T21:00:10.411096+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4613",
"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": "2022-03-02T21:00:05.761853+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX26 were changed from ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 8; INFANTILE REFSUM DISEASE; ADRENOLEUKODYSTROPHY NEONATAL to Peroxisome biogenesis disorder 7A (Zellweger), MIM# 614872",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:59:50.210368+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX26 were set to ",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:59:35.470312+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger), MIM# 614872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:57:44.985795+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX3 as ready",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:57:44.976240+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex3 has been classified as Green List (High Evidence).",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:57:35.556383+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX3 were changed from ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12 to Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:57:18.871388+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX3 were set to ",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:57:04.537093+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:55:34.327902+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX5 as ready",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:55:34.317025+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex5 has been classified as Green List (High Evidence).",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:55:28.742390+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX5 were changed from ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; ADRENOLEUKODYSTROPHY NEONATAL to Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:55:13.900875+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX5 were set to ",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:54:59.986658+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:52:16.488065+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR2F2 as ready",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:52:16.465887+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2f2 has been classified as Green List (High Evidence).",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:52:12.308005+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR2F2 were changed from CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 to Congenital heart defects, multiple types, 4, MIM# 615779",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:51:58.420151+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR2F2 were set to ",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:51:35.464301+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NR2F2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:50:48.467096+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX6 as ready",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:50:48.456395+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex6 has been classified as Green List (High Evidence).",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:50:43.986474+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX6 were changed from ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4 to Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:50:30.767901+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX6 were set to ",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:46:49.363964+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PGAP2 as ready",
"entity_name": "PGAP2",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:46:49.354218+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pgap2 has been classified as Green List (High Evidence).",
"entity_name": "PGAP2",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:46:42.965977+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PGAP2 were changed from INTELLECTUAL DISABILITY to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628",
"entity_name": "PGAP2",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:46:16.365957+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PGAP2 were set to ",
"entity_name": "PGAP2",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:46:00.708736+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic variants in this gene are typically associated with severe DD/ID, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase, although presentations with milder ID have also been reported. More than 10 unrelated families reported.; to: Bi-allelic variants in this gene are typically associated with severe DD/ID, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase, although presentations with milder ID have also been reported. More than 10 unrelated families reported.\r\n\r\nMicrocephaly is a feature.",
"entity_name": "PGAP2",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:43:46.353928+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PGAP3 as ready",
"entity_name": "PGAP3",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:43:46.345058+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pgap3 has been classified as Green List (High Evidence).",
"entity_name": "PGAP3",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:43:39.114275+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PGAP3 were changed from HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318",
"entity_name": "PGAP3",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:43:23.957718+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PGAP3 were set to ",
"entity_name": "PGAP3",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:43:08.847977+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic variants in this gene are associated with severe DD/ID, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase. More than 15 unrelated families reported.; to: Bi-allelic variants in this gene are associated with severe DD/ID, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase. More than 15 unrelated families reported.\r\n\r\nMicrocephaly, CC abnormalities reported.",
"entity_name": "PGAP3",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:39:57.236521+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PGM1 as ready",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:39:57.227086+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pgm1 has been classified as Green List (High Evidence).",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:39:53.425860+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PGM1 were changed from CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT to Congenital disorder of glycosylation, type It 614921",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:39:38.004260+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PGM1 were set to ",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:39:21.447482+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism; to: Over 50 individuals reported. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:39:08.554139+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PGM1: Changed publications: 24499211, 33342467",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:38:25.454143+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: PGM1: The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:32:02.555700+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHF8 as ready",
"entity_name": "PHF8",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:32:02.541572+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phf8 has been classified as Green List (High Evidence).",
"entity_name": "PHF8",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:31:58.230302+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHF8 were changed from MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE to Intellectual developmental disorder, X-linked, syndromic, Siderius type, MIM# 300263",
"entity_name": "PHF8",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:31:45.559642+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHF8 were set to ",
"entity_name": "PHF8",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:31:03.424464+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: PHF8: Cleft lip/palate is a feature.",
"entity_name": "PHF8",
"entity_type": "gene"
},
{
"created": "2022-03-02T20:30:42.316009+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PHF8: Changed phenotypes: Intellectual developmental disorder, X-linked, syndromic, Siderius type, MIM# 300263",
"entity_name": "PHF8",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:35:58.520539+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHGDH as ready",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:35:58.510960+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phgdh has been classified as Green List (High Evidence).",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:35:54.942373+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHGDH were changed from PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; NEU-LAXOVA SYNDROME to Neu-Laxova syndrome 1, MIM# 256520",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:35:42.062040+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHGDH were set to ",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:35:08.901739+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHIP as ready",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:35:08.890304+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phip has been classified as Red List (Low Evidence).",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:35:05.233301+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHIP were changed from Developmental delay, ID, obesity and dysmorphic features to Chung-Jansen syndrome, MIM#617991",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:34:52.280664+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHIP were set to ",
"entity_name": "PHIP",
"entity_type": "gene"
}
]
}