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{
"count": 220467,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=77",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=75",
"results": [
{
"created": "2025-12-23T18:08:25.387851+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALK1 were changed from to Galactokinase deficiency with cataracts MIM#230200",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2025-12-23T18:07:40.542576+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GALK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2025-12-23T18:07:11.302747+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactokinase deficiency with cataracts MIM#230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2025-12-23T18:06:35.530288+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FTL as ready",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2025-12-23T18:06:35.519840+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ftl has been classified as Green List (High Evidence).",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2025-12-23T18:06:32.975809+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FTL were changed from to Hyperferritinemia-cataract syndrome, MIM# 600886",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2025-12-23T18:06:05.292070+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FTL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2025-12-23T18:05:29.020843+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperferritinemia-cataract syndrome, MIM# 600886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2025-12-23T18:04:19.717597+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXE3 as ready",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2025-12-23T18:04:19.702455+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxe3 has been classified as Green List (High Evidence).",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2025-12-23T18:04:14.469681+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXE3 were changed from to Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256; Cataract 34, multiple types, MIM# 612968",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:58:41.910733+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXE3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:58:11.791426+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256, Cataract 34, multiple types, MIM# 612968; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:56:59.159950+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM126A as ready",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:56:59.147432+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam126a has been classified as Green List (High Evidence).",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:56:56.706392+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAM126A were changed from to Leukodystrophy, hypomyelinating, 5, MIM#610532",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:56:28.678148+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAM126A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:56:01.259626+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 5, MIM#610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:54:47.832413+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRYAB as ready",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:54:47.820311+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cryab has been classified as Green List (High Evidence).",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:54:45.098632+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRYAB were changed from to Cataract 16, multiple types (MIM#613763)",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:54:12.351714+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRYAB were set to ",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:52:46.889207+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRYAB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:25:02.019855+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC8 as ready",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:25:02.008909+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc8 has been classified as Green List (High Evidence).",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:24:59.871446+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC8 were changed from to Cockayne syndrome, type A, MIM# 216400",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:24:32.768308+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:24:05.718130+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cockayne syndrome, type A, MIM# 216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:23:33.684055+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC6 as ready",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:23:33.674091+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc6 has been classified as Green List (High Evidence).",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:23:31.314148+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC6 were changed from to Cockayne syndrome, type B, MIM#133540; Cerebrooculofacioskeletal syndrome 1, MIM#214150",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:23:04.300055+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:22:38.594667+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cockayne syndrome, type B, MIM#133540, Cerebrooculofacioskeletal syndrome 1, MIM#214150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:21:57.230212+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC3 as ready",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:21:57.220128+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc3 has been classified as Green List (High Evidence).",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:21:54.710989+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC3 were changed from to Xeroderma pigmentosum, group B, MIM# 610651",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:21:27.708584+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:20:57.100524+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group B, MIM# 610651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:20:04.083743+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC2 as ready",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:20:04.073420+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc2 has been classified as Green List (High Evidence).",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:19:58.848712+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC2 were changed from to Cerebrooculofacioskeletal syndrome 2, MIM# 610756",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:19:31.762283+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:19:05.641147+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:18:23.145063+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A1 as ready",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:18:23.133882+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Green List (High Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:18:03.669961+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A1 were changed from to COL4A1-related disorder MONDO:0800461",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:16:34.769381+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:16:07.482032+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Congenital cataracts reported.; to: Congenital cataracts reported in around 18%.",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:15:56.982658+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COL4A1: Changed publications: 39016117",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:14:59.704563+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: COL4A1-related disorder MONDO:0800461; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:12:17.749116+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL2A1 as ready",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:12:17.741803+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col2a1 has been classified as Green List (High Evidence).",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T17:11:41.383406+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL2A1 were changed from to Collagenopathy type 2 alpha 1, MONDO:0022800",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:33:32.000832+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:33:04.894287+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Collagenopathy type 2 alpha 1, MONDO:0022800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:32:07.422321+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL18A1 as ready",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:32:07.411014+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col18a1 has been classified as Green List (High Evidence).",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:32:03.960442+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1 MIM# 267750",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:31:36.686724+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL18A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:31:14.191557+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL18A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:30:46.061181+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Knobloch syndrome, type 1 MIM# 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:29:58.038965+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL11A1 as ready",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:29:58.027956+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col11a1 has been classified as Green List (High Evidence).",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:29:38.523931+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL11A1 were changed from to Marshall syndrome (MIM#154780); Stickler syndrome, type II (MIM#604841)",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:29:03.038730+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL11A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:28:36.633840+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marshall syndrome (MIM#154780), Stickler syndrome, type II (MIM#604841); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:24:19.916715+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BICC1 as ready",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:24:19.905582+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bicc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:24:15.061728+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BICC1 as Amber List (moderate evidence)",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:24:15.050132+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bicc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:15:55.989999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HCN2 were set to 22131395; 30986657; 29064616; 20437590; 12514127; 17931874",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:15:34.015372+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HCN2: Added comment: PMID 40468825 reports 21 individuals with HCN2 variants from 15 unrelated families. The phenotypic spectrum included developmental delay/intellectual disability (DD/ID, 17/21), epilepsy (10/21), language disorders (16/21), movement disorders (12/21), and axial hypotonia (10/21). Thirteen pathogenic variants (12 new and 1 already described) were identified: 11 missense (8 monoallelic and 3 biallelic), 1 recurrent inframe deletion (monoallelic), and 1 frameshift (biallelic). Functional analysis of p.(Arg324His) variant showed a strong increase of HCN2 conductance, whereas p.(Ala363Val) and p.(Met374Leu) exhibited dominant negative effects. The p.(Leu377His), p.(Pro493Leu), and p.(Gly587Asp) variants rendered HCN2 electrophysiologically silent and impaired membrane trafficking. Structural 3D-analysis revealed that, except for p.(Arg324His), all variants altered HCN2 stability.; Changed publications: 22131395, 30986657, 29064616, 20437590, 12514127, 17931874, 40468825",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:15:01.582510+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCN2 were changed from Neurodevelopmental disorder (MONDO#0700092), HCN2-related to Neurodevelopmental disorder (MONDO#0700092), HCN2-related; Generalized epilepsy with febrile seizures plus, type 11, MIM# 602477",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:14:25.918323+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HCN2 as Green List (high evidence)",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:14:25.909863+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hcn2 has been classified as Green List (High Evidence).",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:06:38.744934+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3855",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:06:38.216934+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3855",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:06:38.127157+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3855",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:06:36.359555+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3855",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:06:35.886680+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3855",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:06:34.601297+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3855",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:06:21.321811+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3854",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: BICC1 were set to 21922595",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:06:12.614360+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3853",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: BICC1 were changed from Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642 to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:06:12.598329+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3853",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: BICC1 were changed from Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642 to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:06:07.765064+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3852",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: BICC1 were changed from Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642 to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:06:07.341955+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3852",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: BICC1 were changed from Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642 to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:06:06.714504+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3852",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: BICC1 were changed from Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642 to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:06:04.506833+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3852",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: BICC1 were changed from Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642 to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:05:59.734515+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3852",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: BICC1 were changed from {Renal dysplasia, cystic, susceptibility to}; OMIM #601331 to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:05:48.200773+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3851",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: BICC1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:05:23.463517+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3850",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: BICC1 as Amber List (moderate evidence)",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:05:23.452402+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3850",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: bicc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:05:18.255790+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.102",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: BICC1 as Red List (low evidence)",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:05:18.244200+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.102",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: bicc1 has been classified as Red List (Low Evidence).",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:03:47.941092+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.101",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene BICC1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-23T16:03:47.732342+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.101",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: BICC1 was added\ngene: BICC1 was added to Renal Macrocystic Disease. Sources: Expert Review Amber,Victorian Clinical Genetics Services\nMode of inheritance for gene: BICC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337\nPhenotypes for gene: BICC1 were set to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2025-12-23T16:03:07.635292+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3849",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene BICC1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-23T15:24:44.027532+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Generalized epilepsy with febrile seizures plus, type 11, MIM# 602477; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2025-12-23T15:23:51.389189+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCN2 were changed from Febrile seizures, familial, 2, MIM# 602477; Genetic epilepsy with febrile seizures plus; Other seizure disorders to Generalized epilepsy with febrile seizures plus, type 11, MIM#\t602477; Febrile seizures, familial, 2, MIM# 602477; Genetic epilepsy with febrile seizures plus; Other seizure disorders",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2025-12-23T15:22:51.957213+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HCN2 were set to 22131395; 30986657; 29064616; 20437590; 12514127; 17931874",
"entity_name": "HCN2",
"entity_type": "gene"
}
]
}