HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=144",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=142",
"results": [
{
"created": "2025-10-24T18:03:58.680572+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LOXL3: Added comment: PMID 41052910: additional family reported, three affected sibs, compound het variants segregated with disease.; Changed rating: GREEN; Changed publications: 30362103, 25663169, 41052910; Changed phenotypes: Stickler syndrome, MONDO:0019354, LOXL3-related",
"entity_name": "LOXL3",
"entity_type": "gene"
},
{
"created": "2025-10-24T17:50:54.664083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDKL1 as Red List (low evidence)",
"entity_name": "CDKL1",
"entity_type": "gene"
},
{
"created": "2025-10-24T17:50:54.650767+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkl1 has been classified as Red List (Low Evidence).",
"entity_name": "CDKL1",
"entity_type": "gene"
},
{
"created": "2025-10-24T17:50:37.126475+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CDKL1",
"entity_type": "gene"
},
{
"created": "2025-10-24T17:50:32.682403+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDKL1: Changed rating: RED",
"entity_name": "CDKL1",
"entity_type": "gene"
},
{
"created": "2025-10-24T17:50:04.832387+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDKL1 as Red List (low evidence)",
"entity_name": "CDKL1",
"entity_type": "gene"
},
{
"created": "2025-10-24T17:50:04.825259+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkl1 has been classified as Red List (Low Evidence).",
"entity_name": "CDKL1",
"entity_type": "gene"
},
{
"created": "2025-10-24T17:49:20.339621+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDKL1: Changed rating: RED",
"entity_name": "CDKL1",
"entity_type": "gene"
},
{
"created": "2025-10-24T17:49:12.911200+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CDKL1",
"entity_type": "gene"
},
{
"created": "2025-10-24T17:38:09.113652+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDKL1 as Amber List (moderate evidence)",
"entity_name": "CDKL1",
"entity_type": "gene"
},
{
"created": "2025-10-24T17:38:09.106428+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDKL1",
"entity_type": "gene"
},
{
"created": "2025-10-24T17:37:47.238658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDKL1: Added comment: PMID 40088891 reports two unrelated individuals with de novo heterozygous CDKL1 missense variants (p.Val115Ala, p.Arg169Cys) presenting with childhood‑onset neurodevelopmental disorder, developmental delay and seizures; Drosophila rescue assays show dominant‑negative activity of the variants. However, note that the variants are present at low frequency in gnomAD v4, p.Val115Ala: 2 individuals, p.Arg169Cys: 13 individuals. Some supportive functional data presented. Upgrade to Amber but not Green due to pop counts.; Changed rating: AMBER; Changed publications: 40088891",
"entity_name": "CDKL1",
"entity_type": "gene"
},
{
"created": "2025-10-24T17:37:46.705884+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CDKL1 was changed from None to None",
"entity_name": "CDKL1",
"entity_type": "gene"
},
{
"created": "2025-10-24T17:37:11.427419+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CDKL1 was changed from Other to None",
"entity_name": "CDKL1",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:51:32.537329+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDKL1 as Amber List (moderate evidence)",
"entity_name": "CDKL1",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:51:32.526894+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDKL1",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:50:33.553408+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDKL1: Changed rating: AMBER",
"entity_name": "CDKL1",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:50:26.351840+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: CDKL1: PMID 40088891 reports two unrelated individuals with de novo heterozygous CDKL1 missense variants (p.Val115Ala, p.Arg169Cys) presenting with childhood‑onset neurodevelopmental disorder, developmental delay and seizures; Drosophila rescue assays show dominant‑negative activity of the variants. However, note that the variants are present at low frequency in gnomAD v4, p.Val115Ala: 2 individuals, p.Arg169Cys: 13 individuals. Some supportive functional data presented. Upgrade to Amber but not Green due to pop counts.",
"entity_name": "CDKL1",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:45:40.544462+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TEKT3 as ready",
"entity_name": "TEKT3",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:45:40.537329+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tekt3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TEKT3",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:45:31.123767+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3464",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene TEKT3 from panel Infertility and Recurrent Pregnancy Loss",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-24T16:45:30.770930+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TEKT3 was added\ngene: TEKT3 was added to Mendeliome. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: TEKT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TEKT3 were set to 36708031\nPhenotypes for gene: TEKT3 were set to Spermatogenic failure, MONDO:0004983, TEKT3-related",
"entity_name": "TEKT3",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:45:13.698798+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TEKT3 as ready",
"entity_name": "TEKT3",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:45:13.691761+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tekt3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TEKT3",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:45:09.015438+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TEKT3 as Amber List (moderate evidence)",
"entity_name": "TEKT3",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:45:09.003507+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tekt3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TEKT3",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:45:01.950411+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TEKT3 was added\ngene: TEKT3 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TEKT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TEKT3 were set to 36708031\nPhenotypes for gene: TEKT3 were set to Spermatogenic failure, MONDO:0004983, TEKT3-related\nReview for gene: TEKT3 was set to AMBER\nAdded comment: PMID: 36708031 reports two unrelated families with biallelic TEKT3 l variants causing oligoasthenoteratozoospermia and male infertility, some supportive functional data. \nSources: Literature",
"entity_name": "TEKT3",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:33:48.063546+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3463",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: 1321346; Phenotypes: oculocerebrorenal syndrome MONDO:0010645; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:28:41.179386+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS13A as ready",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:28:41.172389+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps13a has been classified as Green List (High Evidence).",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:28:01.266031+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS13A were changed from Choreoacanthocytosis MIM#200150 to Choreoacanthocytosis MIM#200150",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:27:27.844253+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS13A were changed from to Choreoacanthocytosis MIM#200150",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:26:41.110887+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3463",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100083; Phenotypes: progressive myoclonus epilepsy MONDO:0020074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:26:39.812966+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS13A were set to 26813249; 15824261; 30140251; 31192303",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:26:06.277645+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS13A were set to ",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:25:11.919344+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS13A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:23:39.067877+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TH were changed from Segawa syndrome, recessive MIM#605407 to Segawa syndrome, recessive MIM#605407",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:23:35.996499+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TH as ready",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:23:35.985052+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: th has been classified as Red List (Low Evidence).",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:22:53.634728+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TH were changed from to Segawa syndrome, recessive MIM#605407",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:21:48.313074+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:15:57.281662+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTEN as ready",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:15:57.270956+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pten has been classified as Green List (High Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:14:33.758938+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTEN were changed from to Cowden syndrome 1, MIM# 158350",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:13:59.849810+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTEN were set to 32588888",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:13:21.669674+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTEN were set to ",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:11:44.822084+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTEN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:11:02.626314+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:10:11.381723+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH3 as ready",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2025-10-24T16:10:11.374308+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch3 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2025-10-24T15:03:04.459494+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH3 were changed from Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310 to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2025-10-24T15:02:30.769166+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH3 were changed from to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2025-10-24T15:01:46.908158+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOTCH3 were set to 31960911",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2025-10-24T15:00:59.177148+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOTCH3 were set to ",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2025-10-24T15:00:12.138897+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOTCH3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2025-10-24T14:58:46.807311+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NLRP2 were changed from female infertility; early embryonic arrest to Oocyte/zygote/embryo maturation arrest 18, MONDO:0957230",
"entity_name": "NLRP2",
"entity_type": "gene"
},
{
"created": "2025-10-24T14:58:28.863550+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NLRP2 were set to 30877238; 19300480; 29574422; 33090377",
"entity_name": "NLRP2",
"entity_type": "gene"
},
{
"created": "2025-10-24T14:57:58.502855+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NLRP2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "NLRP2",
"entity_type": "gene"
},
{
"created": "2025-10-24T14:57:42.361898+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NLRP2: Added comment: PMIDs 29574422, 30877238, 35643636, 39887367 and 41044650 report 15 unrelated families with rare NLRP2 variants. Maternal heterozygous variants cause multilocus imprinting disturbance (MLID) presenting as Beckwith‑Wiedemann syndrome, Silver‑Russell syndrome, transient neonatal diabetes mellitus, unspecified imprinting disorder and pseudohypoparathyroidism type‑1B. Biallelic loss‑of‑function variants cause autosomal recessive primary female infertility with early embryonic arrest (embryos arresting at the 2–4‑cell stage). Functional studies show reduced NLRP2 protein in patient‑derived cells and mouse Nlrp2 knockout recapitulating the embryonic arrest phenotype. No contradictory evidence exists for the well‑supported phenotypes.; Changed publications: 29574422, 30877238, 35643636, 39887367, 41044650",
"entity_name": "NLRP2",
"entity_type": "gene"
},
{
"created": "2025-10-24T14:56:15.429754+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NLRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "NLRP2",
"entity_type": "gene"
},
{
"created": "2025-10-24T14:55:30.510214+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MVK were changed from Mevalonic aciduria MIM# 610377 to Mevalonic aciduria MIM#610377; Porokeratosis 3, multiple types, MIM# 175900",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2025-10-24T14:55:12.402431+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MVK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2025-10-24T14:54:57.982392+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease associations.",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2025-10-24T14:54:49.371516+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MVK: Changed phenotypes: Mevalonic aciduria MIM#610377, Porokeratosis 3, multiple types, MIM# 175900; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2025-10-24T14:53:13.141357+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LBR were changed from Greenberg skeletal dysplasia, MIM# 215140 to Greenberg skeletal dysplasia, MIM#215140; Pelger-Huet anomaly, MIM# 169400",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2025-10-24T14:52:52.872151+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LBR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2025-10-24T14:52:37.085896+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Overlap with ATD in particular. \nSources: Expert list; to: Well established mono- and biallelic gene-disease associations.\r\nSources: Expert list",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2025-10-24T14:52:18.446234+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LBR: Changed phenotypes: Greenberg skeletal dysplasia, MIM#215140, Pelger-Huet anomaly, MIM# 169400; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2025-10-24T14:20:30.487815+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: GBA.",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2025-10-24T14:20:10.711098+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: GBA.",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2025-10-24T14:19:36.365003+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: GBA.",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2025-10-24T14:07:22.181579+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP206 as ready",
"entity_name": "CFAP206",
"entity_type": "gene"
},
{
"created": "2025-10-24T14:07:22.171581+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap206 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CFAP206",
"entity_type": "gene"
},
{
"created": "2025-10-24T14:07:09.022168+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene CFAP206 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-24T14:07:08.874007+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFAP206 was added\ngene: CFAP206 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: CFAP206 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP206 were set to 34255152\nPhenotypes for gene: CFAP206 were set to Spermatogenic failure 102, MIM# 621387\nPenetrance for gene: CFAP206 were set to unknown",
"entity_name": "CFAP206",
"entity_type": "gene"
},
{
"created": "2025-10-24T14:06:50.211266+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP206 were changed from Multiple morphological abnormalities of the flagella to Spermatogenic failure 102, MIM# 621387",
"entity_name": "CFAP206",
"entity_type": "gene"
},
{
"created": "2025-10-24T14:06:28.878418+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFAP206: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 102, MIM# 621387; Mode of inheritance: None",
"entity_name": "CFAP206",
"entity_type": "gene"
},
{
"created": "2025-10-24T11:28:34.031093+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.30",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene ASL from panel Hyperammonaemia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-24T11:28:33.975952+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.30",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ASL was added\ngene: ASL was added to Liver Failure_Paediatric. Sources: Expert Review Green,Expert Review Green,Genomics England PanelApp,NHS GMS,Expert list,Victorian Clinical Genetics Services\ntreatable tags were added to gene: ASL.\nMode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASL were set to 2263616; 12408190\nPhenotypes for gene: ASL were set to Argininosuccinic aciduria\t207900",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2025-10-24T10:22:25.626078+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.397",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "edited their review of gene: SOX2: Added comment: Additional report of a 12 year old girl with a spastic and dystonic movement disorder diagnosed as CP and found to have a de novo loss of function variant in SOX2 (same child reported in both PMID: 39736497; https://doi.org/10.1186/s43042-025-00665-z). Notably, she did not have ocular symptoms.; Changed rating: AMBER; Changed publications: PMID: 38553553, PMID: 39736497",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2025-10-24T07:39:38.160812+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SDHAF2 as Red List (low evidence)",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2025-10-24T07:39:38.149658+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sdhaf2 has been classified as Red List (Low Evidence).",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2025-10-24T07:39:32.567095+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.1",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2025-10-24T07:39:29.987299+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.1",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ClinGen definitive. Renal carcinoma reported in condition. \nSources: Expert list, Expert Review; to: ClinGen definitive for HPP.\r\nRenal carcinoma reported in HPP but no evidence in SDHAF2-related HPP. \r\nSources: Expert list, Expert Review",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2025-10-24T07:38:44.940068+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.1",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: SDHAF2: Added comment: evidence of renal cancers in SDHAF2-related HPP; Changed rating: RED",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2025-10-23T22:01:33.972330+11:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.16",
"user_name": "Abigail Veldman",
"item_type": "entity",
"text": "gene: GLA was added\ngene: GLA was added to Genomic newborn screening: ICoNS. Sources: ClinGen,Literature\nMode of inheritance for gene: GLA 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: GLA were set to 28613767; 37259462\nPhenotypes for gene: GLA were set to Fabry disease (MIM 301500); Fabry disease, cardiac variant (MIM 301500)\nPenetrance for gene: GLA were set to Complete\nMode of pathogenicity for gene: GLA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nAdded comment: Age of onset: Variable,\r\nClassic form 4-8 yrs, late-onset variants >25 yrs\r\nSpecifically difficult to predict in females\r\n\r\nTreatment:\r\n- Agalsidase-β (Recombinant α-GAL)\r\n- Agalsidase-α (Recombinant α-GAL)\r\n- Migalastat (Binds reversibly to the active site of the amenable mutant of α-GAL)\r\n- Investigational therapies\r\n\r\nEffect of (early) treatment:\r\nThere is no consensus when to start with ERT \r\n\r\nPenetrance: \r\n\r\nPrevalence: Prevalence in white male populations has been linked to Fabry disease in a wide range, approximately 1:17,000 to 1:117,000. Classic Fabry disease mutations are seen in approximately 1:22,000 to 1:40,000 males, and atypical presentations are associated with about 1:1000 to 1:3000 males and 1:6000 to 1:40,000 females. Although it is an under-diagnosed condition, the disease is seen in all racial and ethnic groups. (PMID: 28613767) \nSources: ClinGen, Literature",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2025-10-23T12:00:31.425092+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MOCS3 were changed from Molybdenum cofactor deficiency, type B2, MIM# 621373 to Molybdenum cofactor deficiency, type B2, MIM# 621373",
"entity_name": "MOCS3",
"entity_type": "gene"
},
{
"created": "2025-10-23T11:57:42.257464+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MOCS3 were changed from Molybdenum cofactor deficiency MONDO:0020480 to Molybdenum cofactor deficiency, type B2, MIM# 621373",
"entity_name": "MOCS3",
"entity_type": "gene"
},
{
"created": "2025-10-23T11:56:46.891524+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MOCS3: Changed phenotypes: Molybdenum cofactor deficiency, type B2, MIM# 621373",
"entity_name": "MOCS3",
"entity_type": "gene"
},
{
"created": "2025-10-23T11:56:31.426999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MOCS3 were changed from Molybdenum cofactor deficiency MONDO:0020480 to Molybdenum cofactor deficiency, type B2, MIM# 621373",
"entity_name": "MOCS3",
"entity_type": "gene"
},
{
"created": "2025-10-23T11:56:11.167179+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MOCS3: Changed phenotypes: Molybdenum cofactor deficiency, type B2, MIM# 621373",
"entity_name": "MOCS3",
"entity_type": "gene"
},
{
"created": "2025-10-23T11:55:13.729576+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NRL were changed from Retinitis pigmentosa 27 - MIM#613750; Retinal degeneration, autosomal recessive, clumped pigment type to Retinitis pigmentosa 27 - MIM#613750; Enhanced S-cone syndrome 2, MIM# 621371",
"entity_name": "NRL",
"entity_type": "gene"
},
{
"created": "2025-10-23T11:54:50.068404+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NRL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Enhanced S-cone syndrome 2, MIM# 621371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NRL",
"entity_type": "gene"
},
{
"created": "2025-10-23T11:54:12.402752+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NRL as ready",
"entity_name": "NRL",
"entity_type": "gene"
},
{
"created": "2025-10-23T11:54:12.395895+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrl has been classified as Green List (High Evidence).",
"entity_name": "NRL",
"entity_type": "gene"
},
{
"created": "2025-10-23T11:54:10.583697+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NRL were changed from Retinitis pigmentosa 27 (AD); Retinal degeneration, autosomal recessive, clumped pigment type (AR) to Enhanced S-cone syndrome 2, MIM# 621371",
"entity_name": "NRL",
"entity_type": "gene"
},
{
"created": "2025-10-23T11:53:59.448845+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NRL were set to ",
"entity_name": "NRL",
"entity_type": "gene"
},
{
"created": "2025-10-23T11:53:46.854952+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NRL: Changed publications: 39766861, 36140584, 35693422",
"entity_name": "NRL",
"entity_type": "gene"
},
{
"created": "2025-10-23T11:53:20.185929+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NRL: Added comment: More than 5 families reported with the recessive phenotype.; Changed publications: 39766861",
"entity_name": "NRL",
"entity_type": "gene"
},
{
"created": "2025-10-23T11:52:14.564088+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NRL was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NRL",
"entity_type": "gene"
}
]
}