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{
"count": 220694,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=132",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=130",
"results": [
{
"created": "2025-11-14T14:40:20.250323+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.290",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:39:48.050202+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.289",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: COL4A3: Added comment: ARAS - 50%-60% typically exhibit hearing loss\r\nADAS - hearing loss is usually a very late development; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:39:44.534757+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.289",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A4 were changed from Alport syndrome 2, autosomal recessive MIM#203780; Hematuria, familial benign MIM#141200 to Alport syndrome 2, autosomal recessive, MIM# 203780; Alport syndrome 3, autosomal dominant, MIM# 104200",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:39:39.043821+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.288",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:39:13.335792+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.288",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: COL4A4 as ready",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:39:13.327638+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.288",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: col4a4 has been classified as Green List (High Evidence).",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:39:06.635337+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.288",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: COL4A3 as ready",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:39:06.624749+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.288",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: col4a3 has been classified as Green List (High Evidence).",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:39:00.339848+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.288",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: COL4A3",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:38:46.866062+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.288",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: COL4A4: Added comment: ARAS - 50%-60% typically exhibit hearing loss\r\nADAS - hearing loss is usually a very late development; Changed rating: GREEN; Changed phenotypes: Alport syndrome 2, autosomal recessive, MIM# 203780, Alport syndrome 3, autosomal dominant, MIM# 104200; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:38:03.391796+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.288",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:37:44.256053+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.288",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: COL4A4",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:35:49.267301+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3552",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: NOL10 was added\ngene: NOL10 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NOL10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NOL10 were set to 41093997\nPhenotypes for gene: NOL10 were set to NOL10-related neurological disorder MONDO:0100545\nReview for gene: NOL10 was set to RED\nAdded comment: 12yr F with recurrent focal seizures, progressive memory impairment and atrophy and parietal gliosis on MRI. Homozygous missense variant was identified (NM_024894.4: c.682 A > C; p.Asn228His). The variant is absent in gnomAD v4.1 \r\n\r\nFunctional study using patient-derived fibroblasts was conducted and showed defective ribosome biogenesis. As this is a new gene disease association, it is unclear if that is the mechanism of disease. Need more evidence to promote the gene to Amber. \nSources: Literature",
"entity_name": "NOL10",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:34:50.420823+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.288",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene COL4A3 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T14:34:50.240150+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.288",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: COL4A3 was added\ngene: COL4A3 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: COL4A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL4A3 were set to Alport syndrome 2, autosomal recessive, MIM# 203780; Alport syndrome 3, autosomal dominant, MIM# 104200",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:34:15.144657+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.288",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene COL4A4 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T14:34:14.951563+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.288",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: COL4A4 was added\ngene: COL4A4 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: COL4A4 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: COL4A4 were set to 20301386\nPhenotypes for gene: COL4A4 were set to Alport syndrome 2, autosomal recessive MIM#203780; Hematuria, familial benign MIM#141200",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:04:43.614094+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.287",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC4 were changed from Xeroderma pigmentosum, group F, MIM# 278760; MONDO:0010215 to Xeroderma pigmentosum, group F, MIM# 278760; MONDO:0010215",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:04:25.146704+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.287",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC4 were changed from Fanconi anemia, complementation group Q, MIM# 615272; MONDO:0014108; Xeroderma pigmentosum, group F, MIM# 278760; MONDO:0010215; XFE progeroid syndrome, MIM# 610965; MONDO:0012590 to Xeroderma pigmentosum, group F, MIM# 278760; MONDO:0010215",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:03:36.638224+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.286",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: ERCC4 as ready",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:03:36.627469+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.286",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ercc4 has been classified as Green List (High Evidence).",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:03:29.574676+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.286",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group F, MIM# 278760, MONDO:0010215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:02:29.526660+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.286",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene ERCC4 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T14:02:29.356794+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.286",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ERCC4 was added\ngene: ERCC4 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC4 were set to 23623386; 8797827; 23623389; 17183314; 29105242\nPhenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, MIM# 615272; MONDO:0014108; Xeroderma pigmentosum, group F, MIM# 278760; MONDO:0010215; XFE progeroid syndrome, MIM# 610965; MONDO:0012590",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:01:52.798550+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.286",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC3 were changed from Xeroderma pigmentosum, group B 61, MIM#0651 to Xeroderma pigmentosum, group B 61, MIM#0651",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:01:34.559766+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.285",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC3 were changed from Xeroderma pigmentosum, group B 61, MIM#0651 to Xeroderma pigmentosum, group B 61, MIM#0651",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:01:22.012479+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.285",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC3 were changed from Xeroderma pigmentosum, group B 61, MIM#0651 to Xeroderma pigmentosum, group B 61, MIM#0651",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:01:04.554673+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.285",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC3 were changed from Xeroderma pigmentosum, group B 61, MIM#0651 to Xeroderma pigmentosum, group B 61, MIM#0651",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:00:46.921526+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.285",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC3 were changed from Xeroderma pigmentosum, group B 61, MIM#0651 to Xeroderma pigmentosum, group B 61, MIM#0651",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:00:28.846734+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.285",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC3 were changed from Xeroderma pigmentosum, group B 61, MIM#0651 to Xeroderma pigmentosum, group B 61, MIM#0651",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:00:15.347434+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.285",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC3 were changed from Xeroderma pigmentosum, group B 61, MIM#0651 to Xeroderma pigmentosum, group B 61, MIM#0651",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-11-14T14:00:01.325447+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.285",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC3 were changed from Xeroderma pigmentosum, group B 61, MIM#0651 to Xeroderma pigmentosum, group B 61, MIM#0651",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:59:47.401330+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.284",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC3 were changed from Xeroderma pigmentosum, group B 61, MIM#0651 to Xeroderma pigmentosum, group B 61, MIM#0651",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:59:29.804771+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.284",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC3 were changed from Trichothiodystrophy 2, photosensitive, MIM# 616390; Xeroderma pigmentosum, group B 61, MIM#0651 to Xeroderma pigmentosum, group B 61, MIM#0651",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:59:28.788497+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.283",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: ERCC3 as ready",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:59:28.775257+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.283",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ercc3 has been classified as Green List (High Evidence).",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:58:59.850156+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.283",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group B 61, MIM#0651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:57:51.376189+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.283",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC2 were changed from Xeroderma pigmentosum, group D, MIM# 278730; MONDO:0010212 to Xeroderma pigmentosum, group D, MIM# 278730; MONDO:0010212",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:57:32.582938+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.282",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC2 were changed from Cerebrooculofacioskeletal syndrome 2, MIM# 610756; MONDO:0012553; Trichothiodystrophy 1, photosensitive, MIM# 601675; MONDO:0011125; Xeroderma pigmentosum, group D, MIM# 278730; MONDO:0010212 to Xeroderma pigmentosum, group D, MIM# 278730; MONDO:0010212",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:57:17.093204+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.281",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: ERCC2 as ready",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:57:17.084369+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.281",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ercc2 has been classified as Green List (High Evidence).",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:56:53.726171+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.281",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group D, MIM# 278730, MONDO:0010212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:56:22.632848+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.281",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: XPA as ready",
"entity_name": "XPA",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:56:22.622272+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.281",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: xpa has been classified as Green List (High Evidence).",
"entity_name": "XPA",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:56:13.895864+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.281",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: XPA",
"entity_name": "XPA",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:55:47.746582+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.281",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene ERCC3 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T13:55:47.506804+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.281",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ERCC3 was added\ngene: ERCC3 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC3 were set to 2167179; 10447254; 16947863; 9012405; 32557569; 27004399\nPhenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive, MIM# 616390; Xeroderma pigmentosum, group B 61, MIM#0651",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:55:12.165774+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.281",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene ERCC2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T13:55:11.940226+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.281",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ERCC2 was added\ngene: ERCC2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC2 were set to 7849702; 9758621; 11443545; 33733458\nPhenotypes for gene: ERCC2 were set to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; MONDO:0012553; Trichothiodystrophy 1, photosensitive, MIM# 601675; MONDO:0011125; Xeroderma pigmentosum, group D, MIM# 278730; MONDO:0010212",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:54:23.724107+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.280",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene XPA from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T13:54:23.468737+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.280",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: XPA was added\ngene: XPA was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XPA were set to 2234061; 1372102\nPhenotypes for gene: XPA were set to Xeroderma pigmentosum, group A , MIM#278700; MONDO:0010210",
"entity_name": "XPA",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:45:19.348259+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.279",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: PTRH2 as ready",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:45:19.337324+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.279",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ptrh2 has been classified as Green List (High Evidence).",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:44:26.006476+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.279",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene PTRH2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T13:44:25.836716+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.279",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PTRH2 was added\ngene: PTRH2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTRH2 were set to 25558065; 25574476; 31057140; 27129381\nPhenotypes for gene: PTRH2 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:44:19.402784+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.278",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: PLCG1 as ready",
"entity_name": "PLCG1",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:44:19.390460+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.278",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: plcg1 has been classified as Green List (High Evidence).",
"entity_name": "PLCG1",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:38:57.161601+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.278",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene PLCG1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T13:38:56.990060+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.278",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PLCG1 was added\ngene: PLCG1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert Review\nMode of inheritance for gene: PLCG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLCG1 were set to 37422272; 40862571\nPhenotypes for gene: PLCG1 were set to Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514\nMode of pathogenicity for gene: PLCG1 was set to Other",
"entity_name": "PLCG1",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:35:39.242536+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.277",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: COG4 as ready",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:35:39.234255+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.277",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cog4 has been classified as Green List (High Evidence).",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:35:32.224251+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.277",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: COG4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30290151; Phenotypes: Saul-Wilson syndrome, OMIM:618150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:34:34.084697+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.277",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene COG4 from panel Growth failure",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T13:34:33.909637+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.277",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: COG4 was added\ngene: COG4 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: COG4 were set to 30290151; 31949312\nPhenotypes for gene: COG4 were set to Saul-Wilson syndrome, OMIM:618150; Microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407\nMode of pathogenicity for gene: COG4 was set to Other",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:29:21.939612+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.276",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: ARSG as ready",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:29:21.931633+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.276",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: arsg has been classified as Green List (High Evidence).",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:29:10.064348+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.276",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: None; Publications: 29300381, 32455177, 33300174, 33629623, 35226187; Phenotypes: Usher syndrome, type 4, MONDO:0029141; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:27:49.217106+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.276",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene ARSG from panel Usher Syndrome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T13:27:49.010520+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.276",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ARSG was added\ngene: ARSG was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ARSG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARSG were set to 29300381; 20679209; 25452429; 26975023; 33300174; 32455177\nPhenotypes for gene: ARSG were set to Usher syndrome, type IV, 618144",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:22:21.979475+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.275",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: NLRP12: Rating: AMBER; Mode of pathogenicity: None; Publications: 18230725, 24064030, 31820221; Phenotypes: Familial cold autoinflammatory syndrome 2, OMIM:611762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NLRP12",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:21:48.888851+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.275",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NLRP12 as Amber List (moderate evidence)",
"entity_name": "NLRP12",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:21:48.880887+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.275",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nlrp12 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NLRP12",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:21:23.354523+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.274",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: NLRP12 as ready",
"entity_name": "NLRP12",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:21:23.343642+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.274",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nlrp12 has been classified as Green List (High Evidence).",
"entity_name": "NLRP12",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:20:58.026173+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.274",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene NLRP12 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T13:20:57.853644+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.274",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NLRP12 was added\ngene: NLRP12 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: NLRP12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NLRP12 were set to 18230725; 21360512; 24064030; 27633793; 38343435\nPhenotypes for gene: NLRP12 were set to Familial cold autoinflammatory syndrome 2 - MIM#611762",
"entity_name": "NLRP12",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:20:51.684734+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.273",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: DNAJC3 as ready",
"entity_name": "DNAJC3",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:20:51.672391+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.273",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dnajc3 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC3",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:14:18.682191+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.273",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: DNAJC3 were set to 33486469; 34630333; 34654017; 32738013",
"entity_name": "DNAJC3",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:13:31.794648+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.272",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: DNAJC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25466870, 28940199, 32738013, 33486469, 34654017; Phenotypes: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAJC3",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:12:29.747209+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.272",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene DNAJC3 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T13:12:29.507191+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.272",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DNAJC3 was added\ngene: DNAJC3 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJC3 were set to 33486469; 34630333; 34654017; 32738013\nPhenotypes for gene: DNAJC3 were set to Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus - MIM#616192",
"entity_name": "DNAJC3",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:12:13.070070+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.137",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: AP1B1 as ready",
"entity_name": "AP1B1",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:12:13.061331+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.137",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ap1b1 has been classified as Green List (High Evidence).",
"entity_name": "AP1B1",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:12:03.984010+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.29",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: AP1B1 as ready",
"entity_name": "AP1B1",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:12:03.973259+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.29",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ap1b1 has been classified as Green List (High Evidence).",
"entity_name": "AP1B1",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:11:10.835059+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.137",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene AP1B1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T13:11:10.673674+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.137",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: AP1B1 was added\ngene: AP1B1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Expert Review Green,Literature\nMode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP1B1 were set to 31630791, 31630788, 33452671, 33349978, 35144013, 37657632, 32969855\nPhenotypes for gene: AP1B1 were set to Ichthyosiform erythroderma, corneal involvement, and hearing loss MONDO:0009440",
"entity_name": "AP1B1",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:10:33.629049+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.419",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene AP1B1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T13:09:50.595028+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.271",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene AP1B1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T13:09:13.855515+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.29",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene AP1B1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T13:09:13.699017+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.29",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: AP1B1 was added\ngene: AP1B1 was added to Congenital Diarrhoea. Sources: Expert Review Green,Literature\nMode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP1B1 were set to 31630791, 31630788, 33452671, 33349978, 35144013, 37657632, 32969855\nPhenotypes for gene: AP1B1 were set to Ichthyosiform erythroderma, corneal involvement, and hearing loss MONDO:0009440",
"entity_name": "AP1B1",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:07:22.149309+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3551",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: AP1B1 were changed from Ichthyosiform erythroderma, corneal involvement, and hearing loss MONDO:0009440 to Ichthyosiform erythroderma, corneal involvement, and hearing loss MONDO:0009440",
"entity_name": "AP1B1",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:07:20.978285+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3551",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: AP1B1 were changed from Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM# 242150 to Ichthyosiform erythroderma, corneal involvement, and hearing loss MONDO:0009440",
"entity_name": "AP1B1",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:07:18.203415+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3550",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: AP1B1 were set to 31630791, 31630788, 33452671, 33349978, 35144013, 37657632, 32969855",
"entity_name": "AP1B1",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:07:15.447918+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3550",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: AP1B1 were set to 31630788; 31630791",
"entity_name": "AP1B1",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:05:28.045984+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3549",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: AP1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31630791, 31630788, 33452671, 33349978, 35144013, 37657632, 32969855; Phenotypes: Ichthyosiform erythroderma, corneal involvement, and hearing loss MONDO:0009440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP1B1",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:00:30.121150+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.270",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: AP1S1 were changed from MEDNIK syndrome, MONDO:0012251 to MEDNIK syndrome, MONDO:0012251",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:00:30.068273+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.28",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: AP1S1 were changed from Non-syndromic congenital intestinal failure to MEDNIK syndrome, MONDO:0012251",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2025-11-14T13:00:13.005509+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.28",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: AP1S1 were set to PMID: 32306098",
"entity_name": "AP1S1",
"entity_type": "gene"
}
]
}