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{
"count": 221413,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=349",
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"results": [
{
"created": "2024-11-14T12:24:00.923554+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6675",
"user_name": "Ain Roesley",
"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": "2024-11-14T12:23:34.204931+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6675",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PEX19 were set to ",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:23:09.064253+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6675",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:22:32.390979+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6674",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 10051604, 20683989, 11883941, 28391327; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:14:15.218792+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6674",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX16 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:14:07.024871+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6673",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PEX16 as ready",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:14:07.006252+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6673",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pex16 has been classified as Green List (High Evidence).",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:13:45.369294+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITCH as ready",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:13:45.352887+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itch has been classified as Green List (High Evidence).",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:13:40.734946+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITCH were set to ",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:13:28.971117+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6673",
"user_name": "Ain Roesley",
"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": "2024-11-14T12:13:20.765714+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune disease, multisystem, with facial dysmorphism MIM#613385; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:13:01.287766+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6673",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PEX16 were set to ",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:12:33.754171+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6673",
"user_name": "Ain Roesley",
"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": "2024-11-14T12:11:52.612379+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6672",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: PEX16: Changed rating: GREEN",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:11:44.801900+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6672",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PEX14 were set to 37493040; 20301621",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:11:31.656571+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6672",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PEX16: Rating: ; Mode of pathogenicity: None; Publications: 20301621; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876, Peroxisome biogenesis disorder 8B MIM#614877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:11:29.777393+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.546",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "edited their review of gene: ALS2: Changed phenotypes: ALS2-related motor neuron disease (MONDO:0100227)",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:11:10.286452+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6672",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PEX14 were changed from Peroxisome biogenesis disorder 13A (Zellweger) MIM#614887; peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268 to Peroxisome biogenesis disorder 13A (Zellweger) MIM#614887; peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:10:41.882062+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6671",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PEX14 were changed from to Peroxisome biogenesis disorder 13A (Zellweger) MIM#614887; peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:10:14.615317+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6671",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PEX14 were set to ",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:09:47.761594+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6671",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX14 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:09:00.583178+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6670",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 37493040, 20301621; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger) MIM#614887, peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:07:26.792761+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: IMPG2.",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:03:05.558957+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6670",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX13 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:02:40.456999+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6669",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PEX13 as ready",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:02:40.443138+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6669",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pex13 has been classified as Green List (High Evidence).",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:02:18.450299+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6669",
"user_name": "Ain Roesley",
"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": "2024-11-14T12:01:45.242327+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6669",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PEX13 were set to ",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2024-11-14T12:01:18.633859+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6669",
"user_name": "Ain Roesley",
"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": "2024-11-14T12:00:26.667078+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6668",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301621; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger) MIM#614883, Peroxisome biogenesis disorder 11B MIM#614885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2024-11-14T11:58:17.233650+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6668",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PEX12 were changed from Peroxisome biogenesis disorder 3A (Zellweger) MIM#614859; Peroxisome biogenesis disorder 3B MIM#266510 to Peroxisome biogenesis disorder 3A (Zellweger) MIM#614859; Peroxisome biogenesis disorder 3B MIM#266510",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2024-11-14T11:57:55.078875+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6668",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PEX12 as ready",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2024-11-14T11:57:55.059793+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6668",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pex12 has been classified as Green List (High Evidence).",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2024-11-14T11:57:53.017425+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6668",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PEX12 were changed from Peroxisome biogenesis disorder 3A (Zellweger) MIM#614859; Peroxisome biogenesis disorder 3B MIM#266510 to Peroxisome biogenesis disorder 3A (Zellweger) MIM#614859; Peroxisome biogenesis disorder 3B MIM#266510",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2024-11-14T11:57:26.406685+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6667",
"user_name": "Ain Roesley",
"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": "2024-11-14T11:56:56.144493+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6667",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PEX12 were set to ",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2024-11-14T11:56:31.244723+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6667",
"user_name": "Ain Roesley",
"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": "2024-11-14T11:55:43.823310+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6666",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301621; Phenotypes: Peroxisome biogenesis disorder 3A (Zellweger) MIM#614859, Peroxisome biogenesis disorder 3B MIM#266510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2024-11-13T09:44:08.622476+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.546",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: FAM161A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 28, MIM #606068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2024-11-13T09:37:30.611774+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.546",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: None; Publications: 14722918, 12379852, 19738637, 32519823, 28150386; Phenotypes: Developmental and epileptic encephalopathy 1, MIM#30835, Hydranencephaly with abnormal genitalia, MIM#300215, Intellectual developmental disorder, X-linked 29, MIM#300419, Lissencephaly, X-linked 2, MIM#300215, Partington syndrome, MIM#309510, Proud syndrome, MIM#300004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2024-11-13T09:35:51.089035+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2142",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: POMT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2024-11-13T09:35:38.700872+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.72",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: POMT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 (MIM#236670); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 (MIM#613155) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 (MIM#236670); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1 (MIM#613155)",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2024-11-13T09:34:32.243052+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.55",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: POMT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1 613155",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2024-11-12T20:45:47.470083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2141",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SH3KBP1 as Amber List (moderate evidence)",
"entity_name": "SH3KBP1",
"entity_type": "gene"
},
{
"created": "2024-11-12T20:45:47.437592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2141",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sh3kbp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SH3KBP1",
"entity_type": "gene"
},
{
"created": "2024-11-12T20:45:25.560403+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2140",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: SH3KBP1: Changed phenotypes: immunodeficiency 61 MONDO:0010296",
"entity_name": "SH3KBP1",
"entity_type": "gene"
},
{
"created": "2024-11-12T20:45:11.885214+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: SH3KBP1: Changed phenotypes: immunodeficiency 61 MONDO:0010296",
"entity_name": "SH3KBP1",
"entity_type": "gene"
},
{
"created": "2024-11-12T20:44:32.205540+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2140",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SH3KBP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29636373, 21708930; Phenotypes: Immunodeficiency, common variable, 4 MONDO:0013284; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SH3KBP1",
"entity_type": "gene"
},
{
"created": "2024-11-12T20:43:19.063177+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SH3KBP1 as Amber List (moderate evidence)",
"entity_name": "SH3KBP1",
"entity_type": "gene"
},
{
"created": "2024-11-12T20:43:19.052980+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sh3kbp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SH3KBP1",
"entity_type": "gene"
},
{
"created": "2024-11-12T20:42:46.009880+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SH3KBP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29636373, 21708930; Phenotypes: Immunodeficiency, common variable, 4 MONDO:0013284; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SH3KBP1",
"entity_type": "gene"
},
{
"created": "2024-11-12T20:24:27.767541+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PTEN as Green List (high evidence)",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2024-11-12T20:24:27.738643+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pten has been classified as Green List (High Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2024-11-12T20:24:04.405606+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PTEN as Green List (high evidence)",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2024-11-12T20:24:04.391896+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pten has been classified as Green List (High Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2024-11-12T20:23:40.978104+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PTEN as ready",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2024-11-12T20:23:40.964880+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pten has been classified as Red List (Low Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2024-11-12T20:22:31.471914+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTEN was added\ngene: PTEN was added to Predominantly Antibody Deficiency. Sources: Expert list\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTEN were set to 30504085; 33532886; 26246517\nPhenotypes for gene: PTEN were set to PTEN hamartoma tumor syndrome MONDO:0017623\nReview for gene: PTEN was set to GREEN\ngene: PTEN was marked as current diagnostic\nAdded comment: Hypogammaglobulinaemia can be a feature of the condition. \nSources: Expert list",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2024-11-12T15:49:06.862337+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RFC1 as Green List (high evidence)",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2024-11-12T15:49:06.846291+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rfc1 has been classified as Green List (High Evidence).",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2024-11-12T15:34:41.176930+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: RFC1 were set to 30926972",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2024-11-12T15:28:14.186484+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2140",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: RFC1 were set to 30926972; 33103729; 35883251",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2024-11-12T15:27:36.897910+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2139",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RFC1 as Green List (high evidence)",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2024-11-12T15:27:36.886626+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2139",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rfc1 has been classified as Green List (High Evidence).",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2024-11-12T14:49:06.982730+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: ANAPC1.",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2024-11-12T14:47:06.029019+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WASHC5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2024-11-12T14:46:45.676500+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WASHC5: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2024-11-12T14:43:35.209231+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZCCHC8 were set to 31488579",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2024-11-12T14:43:02.799620+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZCCHC8 as Green List (high evidence)",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2024-11-12T14:43:02.774972+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zcchc8 has been classified as Green List (High Evidence).",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2024-11-12T14:42:30.471388+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZCCHC8 were set to 31488579; 38375433",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2024-11-12T14:42:28.526670+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZCCHC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 31488579, 38375433; Phenotypes: Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2024-11-12T14:41:03.823213+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZCCHC8 were set to 31488579",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2024-11-12T14:40:19.487433+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZCCHC8 as Green List (high evidence)",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2024-11-12T14:40:19.476646+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zcchc8 has been classified as Green List (High Evidence).",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2024-11-12T14:39:37.905498+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZCCHC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 31488579, 38375433; Phenotypes: pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 MONDO:0032865; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2024-11-12T14:37:35.259901+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZCCHC8 as Green List (high evidence)",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2024-11-12T14:37:35.249355+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zcchc8 has been classified as Green List (High Evidence).",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2024-11-12T14:37:12.065520+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZCCHC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 MONDO:0032865; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2024-11-12T14:35:32.468153+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RTTN were changed from Microcephaly, short stature, and polymicrogyria with seizures, MIM#\t614833; Intellectual disability; cerebral polymicrogyria; primary microcephaly; growth defects; congenital anomalies to Microcephaly, short stature, and polymicrogyria with seizures, MIM#\t614833; microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018764",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2024-11-12T13:45:49.870866+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2135",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PLA2G4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18451993, 23268370, 25102815; Phenotypes: cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder MONDO:0018794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2024-11-12T13:40:11.125760+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2135",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008471; Phenotypes: microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2024-11-12T13:27:29.510523+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2135",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ZCCHC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 31488579, 38375433; Phenotypes: pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 MONDO:0032865; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2024-11-12T13:23:55.203848+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2135",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SLC18A2: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008459; Phenotypes: brain dopamine-serotonin vesicular transport disease MONDO:0018130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2024-11-12T13:02:38.657950+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2135",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: RFC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35883251, 36478048, 36289003; Phenotypes: cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome MONDO:0044720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2024-11-12T12:53:08.542617+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2135",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: IQCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008440; Phenotypes: ciliopathy MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2024-11-12T12:39:05.848460+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2135",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006537, https://search.clinicalgenome.org/CCID:006538; Phenotypes: hereditary spastic paraplegia 8 MONDO:0011339, Ritscher-Schinzel syndrome 1 MONDO:0009073; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2024-11-12T12:30:36.014187+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2135",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008420; Phenotypes: glycogen storage disease I MONDO:0002413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2024-11-12T12:27:43.243890+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2135",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PYGL: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008478; Phenotypes: glycogen storage disease VI MONDO:0009294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2024-11-12T12:25:51.353287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2135",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CAMLG: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008383; Phenotypes: congenital disorder of glycosylation, type IIz MONDO:0859357; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2024-11-12T12:25:18.576146+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.54",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CAMLG: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008383; Phenotypes: congenital disorder of glycosylation, type IIz MONDO:0859357; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2024-11-12T12:22:29.972419+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2135",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008400; Phenotypes: cerebrotendinous xanthomatosis MONDO:0008948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2024-11-12T12:19:39.312009+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2135",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: DEGS1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008468; Phenotypes: leukodystrophy, hypomyelinating, 18 MONDO:0032730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2024-11-12T12:17:34.077261+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2135",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008429; Phenotypes: Rothmund-Thomson syndrome type 1 MONDO:0016368; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2024-11-12T12:15:16.975274+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.54",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: COG3: Rating: AMBER; Mode of pathogenicity: Other; Publications: https://search.clinicalgenome.org/CCID:008379; Phenotypes: congenital disorder of glycosylation MONDO:0015286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2024-11-12T12:14:42.369447+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2135",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: COG3: Rating: AMBER; Mode of pathogenicity: Other; Publications: https://search.clinicalgenome.org/CCID:008379; Phenotypes: congenital disorder of glycosylation MONDO:0015286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:51:08.756422+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: A single case has been reported and a supporting null mouse model.; to: A single case has been reported and a supporting null mouse model.\r\nhttps://search.clinicalgenome.org/CCID:005865",
"entity_name": "POU2AF1",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:50:40.270188+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POU2AF1 as Amber List (moderate evidence)",
"entity_name": "POU2AF1",
"entity_type": "gene"
},
{
"created": "2024-11-12T07:50:40.258604+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pou2af1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POU2AF1",
"entity_type": "gene"
}
]
}