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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=18",
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"results": [
{
"created": "2026-03-19T11:53:34.485243+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.707",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: PDS5A as ready",
"entity_name": "PDS5A",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:53:34.474384+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.707",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pds5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDS5A",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:53:29.970405+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.707",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag preprint tag was added to gene: PDS5A.",
"entity_name": "PDS5A",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:53:29.420265+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4580",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CD99L2 as Green List (high evidence)",
"entity_name": "CD99L2",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:53:29.409121+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4580",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cd99l2 has been classified as Green List (High Evidence).",
"entity_name": "CD99L2",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:53:25.216926+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.707",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PDS5A as Amber List (moderate evidence)",
"entity_name": "PDS5A",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:53:25.209655+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.707",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pds5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDS5A",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:53:24.449620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4579",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CD99L2 as Green List (high evidence)",
"entity_name": "CD99L2",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:53:24.437263+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4579",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cd99l2 has been classified as Green List (High Evidence).",
"entity_name": "CD99L2",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:52:47.131293+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4578",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PDS5A as Amber List (moderate evidence)",
"entity_name": "PDS5A",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:52:47.124160+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4578",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pds5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDS5A",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:52:28.866446+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.706",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PDS5B as Amber List (moderate evidence)",
"entity_name": "PDS5B",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:52:28.855912+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.706",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pds5b has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDS5B",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:52:27.234220+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4577",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag preprint tag was added to gene: PDS5A.",
"entity_name": "PDS5A",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:52:06.449924+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.705",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag preprint tag was added to gene: PDS5B.",
"entity_name": "PDS5B",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:51:38.588417+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4577",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag preprint tag was added to gene: PDS5B.",
"entity_name": "PDS5B",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:51:33.234816+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4577",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PDS5B as Amber List (moderate evidence)",
"entity_name": "PDS5B",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:51:33.224993+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4577",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pds5b has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDS5B",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:51:05.146686+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4576",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CD99L2 was added\ngene: CD99L2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CD99L2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: CD99L2 were set to 41690933\nPhenotypes for gene: CD99L2 were set to Neurodevelopmental disorder, MONDO:0700092\nReview for gene: CD99L2 was set to GREEN\nAdded comment: PMID 41690933 identified loss‑of‑function variants in CD99L2 gene in 25 males from 20 unrelated families with X-linked spastic ataxia. The age of onset ranged from 10-68yrs, and the main presenting features were gait disturbances and spasticity (mostly lower limbs), ataxia, dysarthria, oculomotor abnormalities, sensory deficits, and dysphagia. Only 2/19 individuals had cerebellar atrophy on MRI brain. Only 1/4 female carriers had any clinical features.\r\n\r\nRNA‑seq showed reduced CD99L2 transcripts and western blot demonstrated loss of full‑length protein. Loss of CD99L2 in patients’ fibroblasts triggered transcriptional dysregulation of genes linked to neuronal and synaptic function. Ablation of cytoplasmic or extracellular domains of CD99L2 lead to its intracellular mislocalisation and abrogation of its interplay with CAPN1 (a calcium-dependent cysteine protease involved in neuronal plasticity). \nSources: Literature",
"entity_name": "CD99L2",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:31:37.823544+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.705",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene PDS5B from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T11:31:34.661645+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.705",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PDS5B was added\ngene: PDS5B was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: PDS5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDS5B were set to 10.64898/2026.02.23.26346364\nPhenotypes for gene: PDS5B were set to Neurodevelopmental disorder, MONDO:0700092",
"entity_name": "PDS5B",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:30:58.036442+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.705",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene PDS5A from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T11:30:57.508801+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.705",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PDS5A was added\ngene: PDS5A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: PDS5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDS5A were set to 10.64898/2026.02.23.26346364; 30158690\nPhenotypes for gene: PDS5A were set to Complex neurodevelopmental disorder, MONDO:0100038",
"entity_name": "PDS5A",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:29:52.647217+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4575",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: Boone 2026 reports 8 individuals from 8 unrelated families with heterozygous predicted damaging PDS5A variants (5 missense and 3 frameshift) and variable neurodevelopmental features without a unified syndrome. Inheritance of variants was 4 de novo, 2 unknown, and 2 inherited from unaffected parent.\r\n\r\nPMID 30158690 reports 2 individuals from 2 unrelated families with heterozygous loss‑of‑function PDS5A variants and a CdLS‑like cohesinopathy. One individual had a paternally inherited PDS5A variant (p.E759*) and de novo ASXL3 variant (which explained most of phenotype). The other individual had a de novo PDS5A variant (c.654+5G>C). \r\n\r\nNo functional studies were presented. \nSources: Literature; to: Boone 2026 reports 8 individuals from 8 unrelated families with rare heterozygous predicted damaging PDS5A variants (5 missense and 3 frameshift) and variable neurodevelopmental features without a unified syndrome. Inheritance of variants was 4 de novo, 2 unknown, and 2 inherited from unaffected parent.\r\n\r\nPMID 30158690 reports 2 individuals from 2 unrelated families with heterozygous loss‑of‑function PDS5A variants and a CdLS‑like cohesinopathy. One individual had a paternally inherited PDS5A variant (p.E759*) and de novo ASXL3 variant (which explained most of phenotype). The other individual had a de novo PDS5A variant (c.654+5G>C). \r\n\r\nNo functional studies were presented. \r\nSources: Literature",
"entity_name": "PDS5A",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:29:36.964072+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4575",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: Boone 2026 reports 8 individuals from 8 unrelated families with rare heterozygous loss of function PDS5B variants and variable neurodevelopmental features. Inheritance of variants was 4 de novo, 3 unknown, and 1 inherited from unaffected parent. No functional studies were presented. \r\nSources: Literature; to: Boone 2026 reports 8 individuals from 8 unrelated families with rare heterozygous loss of function PDS5B variants and variable neurodevelopmental features. Inheritance of variants was 4 de novo, 3 unknown, and 1 inherited from unaffected parent. No functional studies were presented. \r\nSources: Literature",
"entity_name": "PDS5B",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:29:35.747648+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4575",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: Boone 2026 reports 8 individuals from 8 unrelated families with heterozygous loss of function PDS5B variants and variable neurodevelopmental features. Inheritance of variants was 4 de novo, 3 unknown, and 1 inherited from unaffected parent. No functional studies were presented. \nSources: Literature; to: Boone 2026 reports 8 individuals from 8 unrelated families with rare heterozygous loss of function PDS5B variants and variable neurodevelopmental features. Inheritance of variants was 4 de novo, 3 unknown, and 1 inherited from unaffected parent. No functional studies were presented. \r\nSources: Literature",
"entity_name": "PDS5B",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:29:05.477608+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4575",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PDS5B as Green List (high evidence)",
"entity_name": "PDS5B",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:29:05.469845+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4575",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pds5b has been classified as Green List (High Evidence).",
"entity_name": "PDS5B",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:28:55.419971+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4574",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: PDS5B as ready",
"entity_name": "PDS5B",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:28:55.412706+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4574",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pds5b has been classified as Red List (Low Evidence).",
"entity_name": "PDS5B",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:28:48.044447+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4574",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PDS5B was added\ngene: PDS5B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PDS5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDS5B were set to 10.64898/2026.02.23.26346364\nPhenotypes for gene: PDS5B were set to Neurodevelopmental disorder, MONDO:0700092\nReview for gene: PDS5B was set to GREEN\nAdded comment: Boone 2026 reports 8 individuals from 8 unrelated families with heterozygous loss of function PDS5B variants and variable neurodevelopmental features. Inheritance of variants was 4 de novo, 3 unknown, and 1 inherited from unaffected parent. No functional studies were presented. \nSources: Literature",
"entity_name": "PDS5B",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:23:17.555533+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.704",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: FMO4 as ready",
"entity_name": "FMO4",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:23:17.545293+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.704",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fmo4 has been classified as Red List (Low Evidence).",
"entity_name": "FMO4",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:23:10.124316+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.704",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene FMO4 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T11:23:09.600908+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.704",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FMO4 was added\ngene: FMO4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature\nMode of inheritance for gene: FMO4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: FMO4 were set to 41714691, 28940097\nPhenotypes for gene: FMO4 were set to Neurodevelopmental disorder, MONDO:0700092; FMO4 related",
"entity_name": "FMO4",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:22:10.122919+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4573",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene PDS5A from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T11:21:47.406714+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4572",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: PDS5A as ready",
"entity_name": "PDS5A",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:21:47.396668+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4572",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pds5a has been classified as Green List (High Evidence).",
"entity_name": "PDS5A",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:19:26.046308+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4572",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PDS5A as Green List (high evidence)",
"entity_name": "PDS5A",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:19:26.035814+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4572",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pds5a has been classified as Green List (High Evidence).",
"entity_name": "PDS5A",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:19:05.732351+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4571",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PDS5A was added\ngene: PDS5A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PDS5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDS5A were set to 10.64898/2026.02.23.26346364; 30158690\nPhenotypes for gene: PDS5A were set to Complex neurodevelopmental disorder, MONDO:0100038\nReview for gene: PDS5A was set to GREEN\nAdded comment: Boone 2026 reports 8 individuals from 8 unrelated families with heterozygous predicted damaging PDS5A variants (5 missense and 3 frameshift) and variable neurodevelopmental features without a unified syndrome. Inheritance of variants was 4 de novo, 2 unknown, and 2 inherited from unaffected parent.\r\n\r\nPMID 30158690 reports 2 individuals from 2 unrelated families with heterozygous loss‑of‑function PDS5A variants and a CdLS‑like cohesinopathy. One individual had a paternally inherited PDS5A variant (p.E759*) and de novo ASXL3 variant (which explained most of phenotype). The other individual had a de novo PDS5A variant (c.654+5G>C). \r\n\r\nNo functional studies were presented. \nSources: Literature",
"entity_name": "PDS5A",
"entity_type": "gene"
},
{
"created": "2026-03-19T10:52:30.708475+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4570",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene FMO4 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T10:52:10.061797+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4569",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: FMO4 as ready",
"entity_name": "FMO4",
"entity_type": "gene"
},
{
"created": "2026-03-19T10:52:10.051436+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4569",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fmo4 has been classified as Red List (Low Evidence).",
"entity_name": "FMO4",
"entity_type": "gene"
},
{
"created": "2026-03-19T10:52:01.788266+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4569",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FMO4 was added\ngene: FMO4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FMO4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: FMO4 were set to 41714691, 28940097\nPhenotypes for gene: FMO4 were set to Neurodevelopmental disorder, MONDO:0700092; FMO4 related\nReview for gene: FMO4 was set to RED\nAdded comment: 3 individuals from 2 unrelated families with mild‑moderate intellectual disability without additional systemic features. One family had a homozygous loss-of-function frameshift (p.(Ala520GlyfsTer13)) and the other had a homozygous missense variant (p.(Pro28His)) in FMO4 gene. Parents were heterozygous carriers. No functional validation was performed, but the gene is expressed in the brain and the variants are ultra‑rare in population databases. \nSources: Literature",
"entity_name": "FMO4",
"entity_type": "gene"
},
{
"created": "2026-03-19T10:33:19.973824+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.131",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SPIDR as Green List (high evidence)",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2026-03-19T10:33:19.966675+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.131",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: spidr has been classified as Green List (High Evidence).",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2026-03-19T10:33:07.740223+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.406",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SPIDR as Green List (high evidence)",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2026-03-19T10:33:07.729966+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.406",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: spidr has been classified as Green List (High Evidence).",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2026-03-19T10:32:39.679211+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.405",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene SPIDR from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T10:32:39.343685+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.130",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene SPIDR from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T10:32:13.584779+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4568",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SPIDR as Green List (high evidence)",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2026-03-19T10:32:13.576931+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4568",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: spidr has been classified as Green List (High Evidence).",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2026-03-19T10:32:00.286433+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4567",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SPIDR: Rating: GREEN; Mode of pathogenicity: None; Publications: 41644825; Phenotypes: Primary ovarian failure, MONDO:0005387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2026-03-19T10:19:53.158273+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.106",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: BICC1: Added comment: PMID 41677782 provides 4 individuals from 3 families with very early‑onset polycystic kidney disease (VEO-PKD).\r\n-2 siblings from consanguineous family with homozygous missense BICC1 variant (p.Ser240Pro)(absent gnomAD). One of the siblings also had a PKD2 variant (c.1445T>G, p.Phe482Cys).\r\n-1 individual with BICC1 missense variant (c.2462G>A, p.Gly821Glu)(3025 HTZ gnomAD) inherited from his father (2 small renal cysts in 1 kidney), and a de novo PKD2 variant (c.1894T>C, p.Cys632Arg).\r\n-1 individual with BICC1 splice variant (c.1179+1G>T)(absent gnomAD) inherited from his father, and a de novo PKD1 variant (c.11942C>T, p.Ala3981Val).\r\n\r\nFunctional assays of the p.Ser240Pro and p.Gly821Glu variants demonstrated hypomorphic loss‑of‑function (CRISPR knock‑in HEK293T, Xenopus rescue, protein stability). Hypothesis that BICC1 cooperates functionally with PKD1 and PKD2, and that BICC1 variants may aggravate PKD severity.; Changed publications: 41677782; Changed phenotypes: Polycystic kidney disease, MONDO:0020642; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2026-03-19T10:14:58.768777+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.106",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene BICC1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T10:11:55.976997+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4567",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene BICC1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T10:11:20.070980+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4566",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: BICC1: Added comment: PMID 41677782 provides 4 individuals from 3 families with very early‑onset polycystic kidney disease (VEO-PKD).\r\n-2 siblings from consanguineous family with homozygous missense BICC1 variant (p.Ser240Pro)(absent gnomAD). One of the siblings also had a PKD2 variant (c.1445T>G, p.Phe482Cys).\r\n-1 individual with BICC1 missense variant (c.2462G>A, p.Gly821Glu)(3025 HTZ gnomAD) inherited from his father (2 small renal cysts in 1 kidney), and a de novo PKD2 variant (c.1894T>C, p.Cys632Arg). \r\n-1 individual with BICC1 splice variant (c.1179+1G>T)(absent gnomAD) inherited from his father, and a de novo PKD1 variant (c.11942C>T, p.Ala3981Val). \r\nFunctional assays of the p.Ser240Pro and p.Gly821Glu variants demonstrated hypomorphic loss‑of‑function (CRISPR knock‑in HEK293T, Xenopus rescue, protein stability). Hypothesis that BICC1 cooperates functionally with PKD1 and PKD2, and that BICC1 variants may aggravate PKD severity.; Changed publications: 41677782; Changed phenotypes: Polycystic kidney disease, MONDO:0020642; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2026-03-18T15:17:03.568137+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGRP as ready",
"entity_name": "AGRP",
"entity_type": "gene"
},
{
"created": "2026-03-18T15:17:03.558182+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agrp has been classified as Red List (Low Evidence).",
"entity_name": "AGRP",
"entity_type": "gene"
},
{
"created": "2026-03-18T15:16:43.088519+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene AGRP from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-18T15:16:43.029609+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGRP was added\ngene: AGRP was added to Severe early-onset obesity. Sources: Expert Review Red,Victorian Clinical Genetics Services\nMode of inheritance for gene: AGRP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AGRP were set to 41680086\nPhenotypes for gene: AGRP were set to {Leanness, inherited} 601665; {Obesity, late-onset} 601665; Obesity disorder, MONDO:0011122, AGRP-related",
"entity_name": "AGRP",
"entity_type": "gene"
},
{
"created": "2026-03-18T15:16:24.473675+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGRP were changed from {Leanness, inherited} 601665; {Obesity, late-onset} 601665 to {Leanness, inherited} 601665; {Obesity, late-onset} 601665; Obesity disorder, MONDO:0011122, AGRP-related",
"entity_name": "AGRP",
"entity_type": "gene"
},
{
"created": "2026-03-18T15:16:04.898928+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGRP were set to ",
"entity_name": "AGRP",
"entity_type": "gene"
},
{
"created": "2026-03-18T15:15:48.012359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AGRP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AGRP",
"entity_type": "gene"
},
{
"created": "2026-03-18T15:15:31.710161+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AGRP: Added comment: PMID 41680086 reports a single individual carrying a heterozygous missense AGRP variant p.Arg79Cys associated with severe early‑onset childhood obesity; segregation analysis confirms co‑segregation; no functional studies were performed.; Changed publications: 41680086; Changed phenotypes: Obesity disorder, MONDO:0011122, AGRP-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AGRP",
"entity_type": "gene"
},
{
"created": "2026-03-18T14:58:40.285659+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C11orf80 were changed from Recurrent hydatidiform mole 4, MIM # 618432 to Infertility disorder, MONDO:0005047, C11orf80-related; hydatidiform mole, recurrent, 4, MONDO:0032747",
"entity_name": "C11orf80",
"entity_type": "gene"
},
{
"created": "2026-03-18T14:58:31.587481+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C11orf80 were set to 30388401; 36732965",
"entity_name": "C11orf80",
"entity_type": "gene"
},
{
"created": "2026-03-18T14:58:16.651172+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C11orf80: Rating: AMBER; Mode of pathogenicity: None; Publications: 41644825, 30388401; Phenotypes: Infertility disorder, MONDO:0005047, C11orf80-related, hydatidiform mole, recurrent, 4, MONDO:0032747; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C11orf80",
"entity_type": "gene"
},
{
"created": "2026-03-18T14:56:28.009266+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C11orf80 were changed from Recurrent hydatidiform mole 4, MIM # 618432 to Infertility disorder, MONDO:0005047, C11orf80-related; hydatidiform mole, recurrent, 4, MONDO:0032747",
"entity_name": "C11orf80",
"entity_type": "gene"
},
{
"created": "2026-03-18T14:56:09.879567+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C11orf80 were set to 30388401; 36732965",
"entity_name": "C11orf80",
"entity_type": "gene"
},
{
"created": "2026-03-18T14:55:44.783453+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: C11orf80: Added comment: PMID 41644825 reports a Turkish consanguineous family with a homozygous splice‑site TOP6BL variant (c.523+1G>C) causing adult‑onset non‑obstructive azoospermia (NOA) and meiotic arrest; mouse Top6bl knockout recapitulates the male‑infertility phenotype. PMID 30388401 describes two unrelated families with biallelic TOP6BL loss‑of‑function alleles (c.783dup and c.1501T>C) presenting with recurrent complete hydatidiform mole (CHM) and miscarriage.\r\n\r\nMaintain Amber rating as unclear whether these two disease associations are related or distinct.; Changed publications: 41644825, 30388401; Changed phenotypes: Infertility disorder, MONDO:0005047, C11orf80-related, hydatidiform mole, recurrent, 4, MONDO:0032747",
"entity_name": "C11orf80",
"entity_type": "gene"
},
{
"created": "2026-03-18T14:43:31.697492+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNC were set to 23936043",
"entity_name": "TNC",
"entity_type": "gene"
},
{
"created": "2026-03-18T14:43:02.459575+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNC as Green List (high evidence)",
"entity_name": "TNC",
"entity_type": "gene"
},
{
"created": "2026-03-18T14:43:02.448883+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnc has been classified as Green List (High Evidence).",
"entity_name": "TNC",
"entity_type": "gene"
},
{
"created": "2026-03-18T14:42:34.171612+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TNC: Added comment: Five additional unrelated families (12 patients) with heterozygous loss‑of‑function TNC variants (frameshift c.5738_5745dup, nonsense c.1615C>T, nonsense c.1641C>A, missense c.2852C>T, splice‑site c.5247A>T) reported in association with deafness. Phenotypes range from childhood‑onset fluctuating loss to adult low‑frequency progressive loss. Two of the variants are present at relatively high pop frequencies in gnomAD.; Changed rating: GREEN; Changed publications: 23936043, 40203778, 39720982, 39020321, 38640279, 35062939",
"entity_name": "TNC",
"entity_type": "gene"
},
{
"created": "2026-03-18T14:42:25.047624+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNC were set to 23936043; 34093110; 33763067",
"entity_name": "TNC",
"entity_type": "gene"
},
{
"created": "2026-03-18T14:39:45.076481+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNC as Green List (high evidence)",
"entity_name": "TNC",
"entity_type": "gene"
},
{
"created": "2026-03-18T14:39:45.066148+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnc has been classified as Green List (High Evidence).",
"entity_name": "TNC",
"entity_type": "gene"
},
{
"created": "2026-03-18T14:39:26.586097+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TNC: Added comment: Five additional unrelated families (12 patients) with heterozygous loss‑of‑function TNC variants (frameshift c.5738_5745dup, nonsense c.1615C>T, nonsense c.1641C>A, missense c.2852C>T, splice‑site c.5247A>T) reported in association with deafness. Phenotypes range from childhood‑onset fluctuating loss to adult low‑frequency progressive loss.\r\n\r\nTwo of the variants are present at relatively high pop frequencies in gnomAD.; Changed rating: GREEN; Changed publications: 40203778, 39720982, 39020321, 38640279, 35062939; Changed phenotypes: autosomal dominant nonsyndromic hearing loss 56, MONDO:0014283",
"entity_name": "TNC",
"entity_type": "gene"
},
{
"created": "2026-03-18T12:31:24.355776+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.531",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Phenotypes for gene: MYH6 were changed from to MYH-6 related congenital heart defects MONDO:0800442",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2026-03-18T12:30:55.679627+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.530",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYH6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2026-03-18T12:30:31.056822+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.529",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MYH6: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008375; Phenotypes: MYH-6 related congenital heart defects MONDO:0800442; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:15:31.038873+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NRDC as ready",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:15:31.029833+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrdc has been classified as Green List (High Evidence).",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:15:15.448127+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NRDC as Green List (high evidence)",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:15:15.439943+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrdc has been classified as Green List (High Evidence).",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:14:36.744647+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Literature was added to NRDC.\nRating Changed from No List (delete) to Red List (low evidence)",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:13:53.975821+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "All sources for gene: NRDC were removed",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:13:48.778772+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene NRDC from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-18T10:13:48.538041+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NRDC was added\ngene: NRDC was added to Arthrogryposis. Sources: Expert Review Green,Literature\nMode of inheritance for gene: NRDC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NRDC were set to 41449824; 28017472; 34582790; 19935654\nPhenotypes for gene: NRDC were set to Neurodevelopmental disorder, MONDO:0700092, NRDC-related",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:13:22.519731+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NRDC as ready",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:13:22.507394+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrdc has been classified as Green List (High Evidence).",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:13:03.500943+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.385",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene NRDC from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-18T10:13:02.917232+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NRDC was added\ngene: NRDC was added to Genetic Epilepsy. Sources: Expert Review Green,Literature,Literature\nMode of inheritance for gene: NRDC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NRDC were set to 41449824; 28017472; 34582790; 19935654; 41734767; 41449824\nPhenotypes for gene: NRDC were set to Neurodevelopmental disorder, MONDO:0700092, NRDC-related",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:11:44.447305+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NRDC as ready",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:11:44.440537+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrdc has been classified as Green List (High Evidence).",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:11:40.832122+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NRDC were set to 41449824; 28017472; 34582790; 19935654",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:11:14.873373+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NRDC as Green List (high evidence)",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:11:14.862499+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrdc has been classified as Green List (High Evidence).",
"entity_name": "NRDC",
"entity_type": "gene"
}
]
}