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{
"count": 220650,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=118",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=116",
"results": [
{
"created": "2025-11-25T11:44:55.895124+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actb has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:44:08.544092+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTB was added\ngene: ACTB was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACTB were set to 32588558; 27625340\nPhenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1 (MIM#243310)\nReview for gene: ACTB was set to AMBER\nAdded comment: Contractures reported in some affected individuals. \nSources: Literature",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:39:04.719121+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCTD19 as ready",
"entity_name": "KCTD19",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:39:04.704035+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kctd19 has been classified as Green List (High Evidence).",
"entity_name": "KCTD19",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:38:46.349251+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3651",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene KCTD19 from panel Infertility and Recurrent Pregnancy Loss",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-25T11:38:45.069815+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCTD19 was added\ngene: KCTD19 was added to Mendeliome. Sources: Expert Review Green,Literature\nMode of inheritance for gene: KCTD19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KCTD19 were set to 37192818; 37485353; 39318590; 40410542; 41221840\nPhenotypes for gene: KCTD19 were set to Infertility disorder, MONDO:0005047, KCTD19-related",
"entity_name": "KCTD19",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:38:22.739252+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCTD19 as ready",
"entity_name": "KCTD19",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:38:22.729681+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kctd19 has been classified as Green List (High Evidence).",
"entity_name": "KCTD19",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:38:18.454373+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCTD19 as Green List (high evidence)",
"entity_name": "KCTD19",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:38:18.441218+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kctd19 has been classified as Green List (High Evidence).",
"entity_name": "KCTD19",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:38:10.369907+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCTD19 was added\ngene: KCTD19 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: KCTD19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KCTD19 were set to 37192818; 37485353; 39318590; 40410542; 41221840\nPhenotypes for gene: KCTD19 were set to Infertility disorder, MONDO:0005047, KCTD19-related\nReview for gene: KCTD19 was set to GREEN\nAdded comment: More than 15 individuals from 10 unrelated families reported with bi-allelic variants in this gene and male infertility. Supportive functional data. \nSources: Literature",
"entity_name": "KCTD19",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:23:01.570423+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZMYND11 as ready",
"entity_name": "ZMYND11",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:23:01.562831+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmynd11 has been classified as Red List (Low Evidence).",
"entity_name": "ZMYND11",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:22:58.176720+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZMYND11 as Red List (low evidence)",
"entity_name": "ZMYND11",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:22:58.169193+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmynd11 has been classified as Red List (Low Evidence).",
"entity_name": "ZMYND11",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:22:25.050316+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIT1 as ready",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:22:25.043519+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trit1 has been classified as Red List (Low Evidence).",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:22:21.368213+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIT1 as Red List (low evidence)",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:22:21.361248+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trit1 has been classified as Red List (Low Evidence).",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:21:38.940260+11:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP13A2 as ready",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:21:38.929318+11:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp13a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:21:36.367204+11:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP13A2 were set to ",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:19:12.622375+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU6ATAC as ready",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:19:12.615125+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu6atac has been classified as Red List (Low Evidence).",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:19:08.066376+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU6ATAC as Red List (low evidence)",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:19:08.054230+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu6atac has been classified as Red List (Low Evidence).",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:18:30.757058+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU6ATAC as ready",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:18:30.746775+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu6atac has been classified as Red List (Low Evidence).",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2025-11-25T10:43:35.911931+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAFA as ready",
"entity_name": "MAFA",
"entity_type": "gene"
},
{
"created": "2025-11-25T10:43:35.900927+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mafa has been classified as Green List (High Evidence).",
"entity_name": "MAFA",
"entity_type": "gene"
},
{
"created": "2025-11-25T10:43:21.330080+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAFA as Green List (high evidence)",
"entity_name": "MAFA",
"entity_type": "gene"
},
{
"created": "2025-11-25T10:43:21.320119+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mafa has been classified as Green List (High Evidence).",
"entity_name": "MAFA",
"entity_type": "gene"
},
{
"created": "2025-11-24T17:20:32.777726+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRD5A3 as ready",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2025-11-24T17:20:32.770130+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srd5a3 has been classified as Green List (High Evidence).",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2025-11-24T17:20:27.654936+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRD5A3 were changed from to Kahrizi syndrome, MIM#\t612713",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2025-11-24T17:20:07.843401+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SRD5A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2025-11-24T17:19:47.724568+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRD5A3 were set to ",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2025-11-24T17:18:24.695333+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTG1 as ready",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2025-11-24T17:18:24.685564+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2025-11-24T17:12:19.069730+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3649",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene C1GALT1C1 from panel Atypical Haemolytic Uraemic Syndrome_MPGN",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-24T17:06:41.210395+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C1GALT1C1 as Green List (high evidence)",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2025-11-24T17:06:41.202499+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1galt1c1 has been classified as Green List (High Evidence).",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2025-11-24T17:04:38.042124+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHX38 as ready",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2025-11-24T17:04:38.037531+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Maintain Amber rating after reviewing PMID 35719279: another homozygous ?synonymous variant without supportive data.",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2025-11-24T17:04:38.013860+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx38 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2025-11-24T17:04:08.066319+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHX38 were set to 24737827; 30208423",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2025-11-24T17:03:46.515949+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene DHX38 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-24T17:03:12.776098+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHX38 as ready",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2025-11-24T17:03:12.773102+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Maintain Amber rating after reviewing PMID 35719279, another homozygous ?synonymous variant with little supportive data.",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2025-11-24T17:03:12.755747+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx38 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2025-11-24T17:02:36.399118+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHX38 were set to 24737827; 30208423",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2025-11-24T16:56:28.770058+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASIC5 as ready",
"entity_name": "ASIC5",
"entity_type": "gene"
},
{
"created": "2025-11-24T16:56:28.756757+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asic5 has been classified as Red List (Low Evidence).",
"entity_name": "ASIC5",
"entity_type": "gene"
},
{
"created": "2025-11-24T16:53:24.483563+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3647",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene ASIC5 from panel Infertility and Recurrent Pregnancy Loss",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-24T16:53:23.365676+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASIC5 was added\ngene: ASIC5 was added to Mendeliome. Sources: Expert Review Red,Literature\nMode of inheritance for gene: ASIC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASIC5 were set to PMID: 34395479\nPhenotypes for gene: ASIC5 were set to Unexplained recurrent pregnancy loss",
"entity_name": "ASIC5",
"entity_type": "gene"
},
{
"created": "2025-11-24T16:53:02.114022+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASIC5 as ready",
"entity_name": "ASIC5",
"entity_type": "gene"
},
{
"created": "2025-11-24T16:53:02.105861+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asic5 has been classified as Red List (Low Evidence).",
"entity_name": "ASIC5",
"entity_type": "gene"
},
{
"created": "2025-11-24T16:52:54.590042+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASIC5 as Red List (low evidence)",
"entity_name": "ASIC5",
"entity_type": "gene"
},
{
"created": "2025-11-24T16:52:54.582409+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asic5 has been classified as Red List (Low Evidence).",
"entity_name": "ASIC5",
"entity_type": "gene"
},
{
"created": "2025-11-24T16:52:46.805669+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASIC5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ASIC5",
"entity_type": "gene"
},
{
"created": "2025-11-24T16:49:24.686334+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: A4GALT as ready",
"entity_name": "A4GALT",
"entity_type": "gene"
},
{
"created": "2025-11-24T16:49:24.678597+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: a4galt has been classified as Green List (High Evidence).",
"entity_name": "A4GALT",
"entity_type": "gene"
},
{
"created": "2025-11-24T16:49:15.400995+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: A4GALT as ready",
"entity_name": "A4GALT",
"entity_type": "gene"
},
{
"created": "2025-11-24T16:49:15.393730+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: a4galt has been classified as Green List (High Evidence).",
"entity_name": "A4GALT",
"entity_type": "gene"
},
{
"created": "2025-11-24T16:48:56.859466+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene A4GALT from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-24T16:48:56.788227+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: A4GALT was added\ngene: A4GALT was added to Red cell disorders. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: A4GALT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: A4GALT were set to 12823750; 15142124; 10747952; 10993874; 11896312; 27612185\nPhenotypes for gene: A4GALT were set to A4GALT-congenital disorder of glycosylation MONDO:0100587",
"entity_name": "A4GALT",
"entity_type": "gene"
},
{
"created": "2025-11-24T16:48:56.492470+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene A4GALT from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-24T16:48:56.205567+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: A4GALT was added\ngene: A4GALT was added to Congenital Disorders of Glycosylation. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: A4GALT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: A4GALT were set to 12823750; 15142124; 10747952; 10993874; 11896312; 27612185\nPhenotypes for gene: A4GALT were set to A4GALT-congenital disorder of glycosylation MONDO:0100587",
"entity_name": "A4GALT",
"entity_type": "gene"
},
{
"created": "2025-11-24T16:47:41.515897+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: A4GALT were changed from [Blood group, P1Pk system, p phenotype], MIM# 111400 to A4GALT-congenital disorder of glycosylation MONDO:0100587",
"entity_name": "A4GALT",
"entity_type": "gene"
},
{
"created": "2025-11-24T16:47:24.887689+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: A4GALT were set to ",
"entity_name": "A4GALT",
"entity_type": "gene"
},
{
"created": "2025-11-24T16:46:52.155962+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: A4GALT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "A4GALT",
"entity_type": "gene"
},
{
"created": "2025-11-24T16:46:38.837152+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: A4GALT as Green List (high evidence)",
"entity_name": "A4GALT",
"entity_type": "gene"
},
{
"created": "2025-11-24T16:46:38.826491+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: a4galt has been classified as Green List (High Evidence).",
"entity_name": "A4GALT",
"entity_type": "gene"
},
{
"created": "2025-11-24T15:41:39.520236+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRPM4 were set to 19726882; 26820365; 21887725; 32681584; 20562447; 25531103; 27207958; 29568272; 29748318; 36352534; 35205305",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2025-11-24T15:41:22.948667+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 41195386; Phenotypes: progressive familial heart block type IB MONDO:0011474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2025-11-24T14:06:40.931053+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF334 as ready",
"entity_name": "ZNF334",
"entity_type": "gene"
},
{
"created": "2025-11-24T14:06:40.921138+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf334 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF334",
"entity_type": "gene"
},
{
"created": "2025-11-24T14:06:30.227080+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.31",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene ZNF334 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-24T14:06:29.974824+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF334 was added\ngene: ZNF334 was added to Autoinflammatory Disorders. Sources: Expert Review Red,Literature\nMode of inheritance for gene: ZNF334 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZNF334 were set to PIMD: 41168503\nPhenotypes for gene: ZNF334 were set to Familial cold autoinflammatory syndrome, MONDO:0018768, ZNF334-related",
"entity_name": "ZNF334",
"entity_type": "gene"
},
{
"created": "2025-11-24T14:05:36.589459+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF334 as ready",
"entity_name": "ZNF334",
"entity_type": "gene"
},
{
"created": "2025-11-24T14:05:36.581135+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf334 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF334",
"entity_type": "gene"
},
{
"created": "2025-11-24T11:35:21.728174+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.32",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: SUFU were changed from Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental disorder, Joubert-like to Joubert syndrome 32, MIM#617757; Neurodevelopmental disorder, MONDO:0700092, SUFU-related",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2025-11-24T11:33:53.624136+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.64",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: SUFU were changed from congenital ocular motor apraxia (forme fruste of Joubert syndrome) to Joubert syndrome 32, MIM#617757; Neurodevelopmental disorder, MONDO:0700092, SUFU-related",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2025-11-24T11:32:29.765165+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.436",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: SUFU were changed from Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental syndrome to Joubert syndrome 32, MIM#617757; Neurodevelopmental disorder, MONDO:0700092, SUFU-related",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2025-11-24T10:47:23.764362+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NCKAP1 as ready",
"entity_name": "NCKAP1",
"entity_type": "gene"
},
{
"created": "2025-11-24T10:47:23.753626+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nckap1 has been classified as Green List (High Evidence).",
"entity_name": "NCKAP1",
"entity_type": "gene"
},
{
"created": "2025-11-24T10:47:15.079422+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: NCKAP1: 7/17 individuals reported as having seizures.",
"entity_name": "NCKAP1",
"entity_type": "gene"
},
{
"created": "2025-11-24T10:41:53.021327+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.281",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene NCKAP1 from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-24T10:41:52.713841+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NCKAP1 was added\ngene: NCKAP1 was added to Genetic Epilepsy. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: NCKAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NCKAP1 were set to 33157009\nPhenotypes for gene: NCKAP1 were set to Neurodevelopmental disorder (MONDO#0700092), NCKAP1-related",
"entity_name": "NCKAP1",
"entity_type": "gene"
},
{
"created": "2025-11-24T10:29:01.816186+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPKOW were set to 28612833; 40221893",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-11-24T10:28:40.975832+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPKOW were set to PMID: 40221893, 28612833",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-11-24T10:28:19.573109+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPKOW was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-11-24T10:27:44.537602+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPKOW were set to 28612833; 40221893",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-11-24T10:26:24.366083+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.362",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene GPKOW from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-24T10:25:44.094269+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.471",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene GPKOW from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-24T10:22:33.610970+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Possible additional report in PMID 32426895, adult proband, extreme short stature and microcephaly, severe ID. De novo missense p.Gly427Arg.; to: Possible additional report in PMID 32426895, adult proband, extreme short stature and microcephaly, severe ID. De novo missense p.Gly427Arg.\r\n\r\nMODERATE by ClinGen.",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-11-24T10:21:15.927652+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: None; Publications: 32426895; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-11-24T10:16:14.997663+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: ARFGEF1: DEFINITIVE by ClinGen.",
"entity_name": "ARFGEF1",
"entity_type": "gene"
},
{
"created": "2025-11-24T09:00:03.850636+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A2 were changed from Cerebral Palsy MONDO#0006497, COL4A2-related; Brain small vessel disease 2 MIM# 614483 to Cerebral Palsy MONDO#0006497, COL4A2-related; Brain small vessel disease 2A, autosomal dominant MIM# 614483; Brain small vessel disease 2B, autosomal recessive, MIM# 621414",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2025-11-24T08:59:24.101508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease 2B, autosomal recessive, MIM# 621414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL4A2",
"entity_type": "gene"
}
]
}