HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220460,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=75",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=73",
"results": [
{
"created": "2025-12-24T18:08:28.483518+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VIM: Rating: GREEN; Mode of pathogenicity: None; Publications: 26694549; Phenotypes: Cataract 30, pulverulent, MIM# 116300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VIM",
"entity_type": "gene"
},
{
"created": "2025-12-24T18:05:45.251580+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TFAP2A as ready",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2025-12-24T18:05:45.243099+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfap2a has been classified as Green List (High Evidence).",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2025-12-24T18:05:42.548157+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TFAP2A were changed from to Branchiooculofacial syndrome, MIM# 113620",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2025-12-24T18:05:02.976610+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TFAP2A were set to ",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2025-12-24T18:04:37.040012+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2025-12-24T18:04:14.073558+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 36263936; Phenotypes: Branchiooculofacial syndrome, MIM# 113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:37:01.125505+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A1 as ready",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:37:01.118015+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:36:58.797610+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A1 were changed from to GLUT1 deficiency syndrome MONDO:0000188; Stomatin-deficient cryohydrocytosis with neurologic defects, MIM# 608885",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:36:37.447168+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC2A1 were set to ",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:36:13.085419+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:35:13.837531+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22492876; Phenotypes: GLUT1 deficiency syndrome MONDO:0000188, Stomatin-deficient cryohydrocytosis with neurologic defects, MIM# 608885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:31:21.724197+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PITX3 as ready",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:31:21.714026+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pitx3 has been classified as Green List (High Evidence).",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:31:18.944295+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PITX3 were changed from to Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250 Cataract 11, multiple types, MIM# 610623",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:30:53.604261+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PITX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:30:27.051966+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PITX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250 Cataract 11, multiple types, MIM# 610623; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:29:39.782521+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX7 as ready",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:29:39.775396+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex7 has been classified as Green List (High Evidence).",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:29:36.385890+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX7 were changed from to Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:29:15.367922+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:28:47.567830+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:27:51.888485+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX6 as ready",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:27:51.880562+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex6 has been classified as Green List (High Evidence).",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:27:48.972390+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX6 were changed from to Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:27:22.542865+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:26:55.393889+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:26:23.420743+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX5 as ready",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:26:23.410050+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex5 has been classified as Green List (High Evidence).",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:26:20.794958+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX5 were changed from to Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110)",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:25:54.867576+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:25:32.687938+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:25:00.410689+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX3 as ready",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:25:00.398915+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex3 has been classified as Green List (High Evidence).",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:24:57.609944+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX3 were changed from to Peroxisome biogenesis disorder 10A (Zellweger) 614882",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:24:31.813734+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2025-12-24T17:24:04.315672+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger) 614882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:10:53.189071+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX26 as ready",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:10:53.179646+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex26 has been classified as Green List (High Evidence).",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:10:50.438754+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX26 were changed from to Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:10:26.900309+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:09:57.464154+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:09:18.836194+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX2 as ready",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:09:18.826617+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex2 has been classified as Green List (High Evidence).",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:09:16.770674+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX2 were changed from to Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:08:47.292498+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:08:21.786692+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:07:42.623218+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX19 as ready",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:07:42.616559+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex19 has been classified as Green List (High Evidence).",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:07:39.798861+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.486",
"user_name": "Zornitza Stark",
"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": "2025-12-24T16:07:13.690913+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.485",
"user_name": "Zornitza Stark",
"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": "2025-12-24T16:06:50.079738+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:06:09.751951+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX16 as ready",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:06:09.741685+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex16 has been classified as Green List (High Evidence).",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:06:07.515454+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX16 were changed from to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:05:35.136523+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.483",
"user_name": "Zornitza Stark",
"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": "2025-12-24T16:05:04.856770+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:04:30.230587+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX14 as ready",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:04:30.222964+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex14 has been classified as Green List (High Evidence).",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:04:27.896442+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX14 were changed from to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:04:02.445824+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:03:34.929292+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:02:59.162301+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX13 as ready",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:02:59.154137+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex13 has been classified as Green List (High Evidence).",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:02:56.734758+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX13 were changed from to Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883)",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2025-12-24T16:02:30.495480+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.479",
"user_name": "Zornitza Stark",
"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": "2025-12-24T16:02:03.987886+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:35:45.229516+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX12 as ready",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:35:45.218338+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex12 has been classified as Green List (High Evidence).",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:35:43.042744+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX12 were changed from to Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:35:17.569584+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.477",
"user_name": "Zornitza Stark",
"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": "2025-12-24T15:34:48.954519+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:33:23.137903+11:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX11B were set to 20301621; 22581968",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:32:49.710373+11:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PEX11B: Added comment: Additional families reported.; Changed publications: 20301621, 22581968, 38423277, 31724321, 28129423",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:32:23.255729+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX11B were set to 20301621; 22581968",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:32:02.688768+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PEX11B: Added comment: Additional families reported.; Changed rating: GREEN; Changed publications: 38423277, 31724321, 28129423; Changed phenotypes: Peroxisome biogenesis disorder 14B - MIM#614920; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:30:32.937155+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX11B as ready",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:30:32.927458+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex11b has been classified as Green List (High Evidence).",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:30:30.639637+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX11B were changed from to Peroxisome biogenesis disorder 14B - MIM#614920",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:30:09.304478+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX11B were set to ",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:29:48.650773+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:29:26.448822+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 38423277; Phenotypes: Peroxisome biogenesis disorder 14B - MIM#614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:27:23.485937+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX10 as ready",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:27:23.466250+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex10 has been classified as Green List (High Evidence).",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:27:20.533358+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX10 were changed from to Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:26:57.799212+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:26:31.474076+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:25:41.398657+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX1 as ready",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:25:41.391271+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex1 has been classified as Green List (High Evidence).",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:25:39.308142+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX1 were changed from to Peroxisome biogenesis disorder 1A (Zellweger) (MIM#214100)",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:25:10.098952+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:24:42.674670+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 1A (Zellweger) (MIM#214100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:22:48.047832+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX6 were changed from Coloboma of optic nerve - MIM# 120430; Coloboma, ocular - MIM#120200; Morning glory disc anomaly - MIM#120430; Aniridia - MIM#106210; Anterior segment dysgenesis 5, multiple subtypes - MIM#604229; Cataract with late-onset corneal dystrophy - MIM#106210; Foveal hypoplasia 1- MIM#136520; Keratitis - MIM#148190; Optic nerve hypoplasia - MIM#165550 to PAX6-related ocular dysgenesis MONDO:0800183",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:22:23.549594+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PAX6-related ocular dysgenesis MONDO:0800183; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:20:12.624334+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX6 were changed from Aniridia MIM# 106210; Anterior segment dysgenesis 5, multiple subtypes MIM# 6042293; Cataract with late-onset corneal dystrophy MIM# 106210; Foveal hypoplasia 1 MIM# 136520; Keratitis MIM# 148190; Optic nerve hypoplasia MIM# 165550 to PAX6-related ocular dysgenesis MONDO:0800183",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:19:40.065398+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PAX6-related ocular dysgenesis MONDO:0800183; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:19:15.927830+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variants in PAX6 cause a range of eye phenotypes.\r\n\r\nPMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.\r\n\r\nCartwheel cataract is a characteristic feature.; to: Variants in PAX6 cause a range of eye phenotypes, which have been lumped by ClinGen. DEFINITIVE gene-disease association.\r\n\r\nPMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.\r\n\r\nCartwheel cataract is a characteristic feature.",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:18:52.371163+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variants in PAX6 cause a range of eye phenotypes.\r\n\r\nPMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.\r\n\r\nMultiple families reported with coloboma.; to: Variants in PAX6 cause a range of eye phenotypes.\r\n\r\nPMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.\r\n\r\nCartwheel cataract is a characteristic feature.",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2025-12-24T15:18:29.836187+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX6 as ready",
"entity_name": "PAX6",
"entity_type": "gene"
}
]
}