HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=180",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=178",
"results": [
{
"created": "2025-09-02T12:42:40.712661+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ispd has been classified as Green List (High Evidence).",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:42:27.080243+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ISPD.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:42:12.333856+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ISPD as ready",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:42:12.330903+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is CRPPA.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:42:12.315671+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ispd has been classified as Green List (High Evidence).",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:42:04.530204+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ISPD.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:41:47.440979+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ISPD as ready",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:41:47.436303+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is CRPPA.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:41:47.402827+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ispd has been classified as Green List (High Evidence).",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:41:40.392432+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ISPD.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:41:25.168388+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ISPD as ready",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:41:25.163789+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is CRPPA.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:41:25.137891+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ispd has been classified as Green List (High Evidence).",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:41:18.327165+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ISPD.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:41:00.144037+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ISPD as ready",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:41:00.140719+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is CRPPA.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:41:00.121344+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ispd has been classified as Green List (High Evidence).",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:40:46.897695+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ISPD.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:40:30.924481+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ISPD as ready",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:40:30.921267+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is CRPPA.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:40:30.903189+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ispd has been classified as Green List (High Evidence).",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:40:15.697554+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ISPD.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:36:33.163029+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM72 as ready",
"entity_name": "TRIM72",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:36:33.151631+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim72 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM72",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:32:44.362870+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIM72 was added\ngene: TRIM72 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TRIM72 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIM72 were set to 40804694\nPhenotypes for gene: TRIM72 were set to Limb girdle muscular dystrophy MONDO:0016971, TRIM72-related\nReview for gene: TRIM72 was set to RED\nAdded comment: Single affected individual, homozygous LoF variant, c.891delT; p.Ala298ArgfsTer64. However note two homozygous individuals are present in gnomAD. \nSources: Literature",
"entity_name": "TRIM72",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:31:09.967224+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM74 as ready",
"entity_name": "TRIM74",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:31:09.959564+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim74 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM74",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:31:06.161716+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIM74 as Red List (low evidence)",
"entity_name": "TRIM74",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:31:06.151431+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim74 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM74",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:30:40.613382+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM74 as ready",
"entity_name": "TRIM74",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:30:40.600068+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim74 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM74",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:30:33.294615+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIM74 as Red List (low evidence)",
"entity_name": "TRIM74",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:30:33.278940+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim74 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM74",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:29:00.498947+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM72 as ready",
"entity_name": "TRIM72",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:29:00.488187+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim72 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM72",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:28:45.429098+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIM72 was added\ngene: TRIM72 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: TRIM72 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIM72 were set to 40804694\nPhenotypes for gene: TRIM72 were set to Limb girdle muscular dystrophy MONDO:0016971, TRIM72-related\nReview for gene: TRIM72 was set to RED\nAdded comment: Single affected individual, homozygous LoF variant, c.891delT; p.Ala298ArgfsTer64. However note two homozygous individuals are present in gnomAD. \nSources: Literature",
"entity_name": "TRIM72",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:24:49.601741+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF496 as ready",
"entity_name": "ZNF496",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:24:49.590356+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf496 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF496",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:24:41.233858+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF496 was added\ngene: ZNF496 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZNF496 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZNF496 were set to 40806714\nPhenotypes for gene: ZNF496 were set to Neurodevelopmental disorder, MONDO:0700092, ZNF496-related\nReview for gene: ZNF496 was set to RED\nAdded comment: Single individual with NDD and de novo LoF variant, no other supportive data. \nSources: Literature",
"entity_name": "ZNF496",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:22:56.876384+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF496 as ready",
"entity_name": "ZNF496",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:22:56.864528+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf496 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF496",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:21:10.205727+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.252",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: SCN3B was added\ngene: SCN3B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SCN3B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCN3B were set to PMID: 40879121\nPhenotypes for gene: SCN3B were set to Neurodevelopmental disorder, MONDO:0700092, SCN3B-related\nReview for gene: SCN3B was set to AMBER\nAdded comment: SCN3B Encodes b3 auxiliary subunit of the sodium channel.\r\n\r\n4 affected individuals from 2 consanguineous families reported in PMID: 40879121 with biallelic variants in this gene with neurodevelopmental phenotypes. Presentation included GDD, ID of variable severity, autism, seizures.\r\nOne variant was nonsense, one canonical splice site in the penultimate exon.\r\n\r\nNo homozygous LOF variants in gnomAD v4.\r\n\r\nSome functional studies performed with loss of function of channel demonstrated for one variant. \nSources: Literature",
"entity_name": "SCN3B",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:20:16.370939+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2941",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: SCN3B was added\ngene: SCN3B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SCN3B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCN3B were set to PMID: 40879121\nPhenotypes for gene: SCN3B were set to Neurodevelopmental disorder, MONDO:0700092, SCN3B-related\nReview for gene: SCN3B was set to AMBER\nAdded comment: SCN3B Encodes b3 auxiliary subunit of the sodium channel. \r\n\r\n4 affected individuals from 2 consanguineous families reported in PMID: 40879121 with biallelic variants in this gene with neurodevelopmental phenotypes. Presentation included GDD, ID of variable severity, autism, seizures. \r\nOne variant was nonsense, one canonical splice site in the penultimate exon. \r\n\r\nNo homozygous LOF variants in gnomAD v4.\r\n\r\nSome functional studies performed with loss of function of channel demonstrated for one variant. \nSources: Literature",
"entity_name": "SCN3B",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:19:41.587941+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.252",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: XPO1 was added\ngene: XPO1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: XPO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: XPO1 were set to 40819229\nPhenotypes for gene: XPO1 were set to Neurodevelopmental disorder, XPO1-related, MONDO:0700092\nReview for gene: XPO1 was set to GREEN\nAdded comment: Established gene-disease association\r\n22 probands with de novo XPO1 variants presenting with phenotypes associated with NDD (DD, ID, motor delay, behavioral problems, facial dysmorphisms, microcephaly and organ anomalies) along with supportive Drosophila knockdown model reported. \nSources: Literature",
"entity_name": "XPO1",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:18:40.207775+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2941",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: XPO1 was added\ngene: XPO1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: XPO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: XPO1 were set to 40819229\nPhenotypes for gene: XPO1 were set to Neurodevelopmental disorder, XPO1-related, MONDO:0700092\nReview for gene: XPO1 was set to GREEN\nAdded comment: Established gene-disease association\r\n22 probands with de novo XPO1 variants presenting with phenotypes associated with NDD (DD, ID, motor delay, behavioral problems, facial dysmorphisms, microcephaly and organ anomalies) along with supportive Drosophila knockdown model reported. \nSources: Literature",
"entity_name": "XPO1",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:57:32.074378+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.96",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: TLN1 were set to 30888838; 39163585; 33092471",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:57:20.923761+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.96",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: TLN1 were set to 30888838",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:56:46.703569+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.95",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "changed review comment from: Azizi (2024): \r\n- describes missense variants and functionally analyzes only a SINGLE missense finding a measurable defect in features such as cell behaviour and movement. \r\n- Missense that were analysed were the same variants described in the previous submission (Turley 2019). Functional studies showed some effects in wound healing assay, but not cell monolayer integrity - weak functional evidence; to: Azizi (2024): \r\n- describes missense variants and functionally analyzes only a SINGLE missense finding a measurable defect in features such as cell behaviour and movement. \r\n- Missense that were analysed were the same variants described in the previous submission (Turley 2019). Functional studies showed some effects in wound healing assay, but not cell monolayer integrity - weak functional evidence\r\n\r\nLi (2021): Additional SNPs observed in a cohort with thoracic aortic aneurysm, no follow analysis of the variants (MAF, in silicos, functional etc.)",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:34:43.364095+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF496 was added\ngene: ZNF496 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ZNF496 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZNF496 were set to 40806714\nPhenotypes for gene: ZNF496 were set to Neurodevelopmental disorder, MONDO:0700092, ZNF496-related\nReview for gene: ZNF496 was set to RED\nAdded comment: Single individual with NDD and de novo LoF variant, no other supportive data. \nSources: Literature",
"entity_name": "ZNF496",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:22:30.374082+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MKL1 were changed from Neutropaenia with combined immune deficiency to Inborn error of immunity, MONDO:0003778, MKL1-related",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:22:13.095728+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MKL1 were set to 32128589; 26224645",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:21:56.009451+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MKL1 as Green List (high evidence)",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:21:55.997788+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mkl1 has been classified as Green List (High Evidence).",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:21:41.887933+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MKL1: Added comment: Third individual reported with compound het LoF variants and some supportive functional data. Neutrophils from the affected individual showed impaired F-actin polymerization, decreased migration ability, reduced ROS production, increased apoptosis, diminished NETs formation, and decreased MPO levels. Transcriptome profiling revealed neutrophil-specific downregulation of cytoskeletal genes with concomitant upregulation of antimicrobial peptide/inflammatory pathways, while PBMCs presented upregulated adhesion/migration-related genes.; Changed rating: GREEN; Changed publications: 32128589, 26224645, 40808667; Changed phenotypes: Inborn error of immunity, MONDO:0003778, MKL1-related",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:20:40.507746+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MKL1 were changed from Neutropaenia with combined immune deficiency to Inborn error of immunity, MONDO:0003778, MKL1-related",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:20:13.145155+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MKL1: Changed phenotypes: Inborn error of immunity, MONDO:0003778, MKL1-related",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:19:32.526124+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MKL1 were set to 32128589; 26224645",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:19:05.994462+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MKL1 as Green List (high evidence)",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:19:05.983677+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mkl1 has been classified as Green List (High Evidence).",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:18:39.478372+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MKL1: Added comment: Third individual reported with compound het LoF variants and some supportive functional data. Neutrophils from the affected individual showed impaired F-actin polymerization, decreased migration ability, reduced ROS production, increased apoptosis, diminished NETs formation, and decreased MPO levels. Transcriptome profiling revealed neutrophil-specific downregulation of cytoskeletal genes with concomitant upregulation of antimicrobial peptide/inflammatory pathways, while PBMCs presented upregulated adhesion/migration-related genes.; Changed rating: GREEN; Changed publications: 32128589, 26224645, 40808667",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:10:37.679354+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MARS were set to 23729695; 24354524; 29655802; 24103465; 25913036; 33909043; 24482476; 34585293",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:10:15.608196+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MARS: Added comment: Second individual with homozygous variant and trichothiodystorphy reported in PMID 40820264; Changed publications: 23729695, 24354524, 29655802, 24103465, 25913036, 24482476, 34585293, 40820264, 33909043",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:08:54.321345+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MARS were set to 33909043",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:08:26.770998+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MARS: Changed publications: 40820264, 33909043",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:07:54.351141+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MARS as Amber List (moderate evidence)",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:07:54.339520+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mars has been classified as Amber List (Moderate Evidence).",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:07:34.380051+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MARS: Added comment: Second individual reported with this phenotype and a homozygous variant in this gene.; Changed rating: AMBER",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:04:00.539984+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TECTB as ready",
"entity_name": "TECTB",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:04:00.529349+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tectb has been classified as Red List (Low Evidence).",
"entity_name": "TECTB",
"entity_type": "gene"
},
{
"created": "2025-09-02T11:03:53.697043+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TECTB was added\ngene: TECTB was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TECTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TECTB were set to 40832383\nPhenotypes for gene: TECTB were set to Hearing loss disorder, MONDO:0005365, TECTB-related\nReview for gene: TECTB was set to RED\nAdded comment: Single multigenerational family segregating a missense variant and a mouse model. \nSources: Literature",
"entity_name": "TECTB",
"entity_type": "gene"
},
{
"created": "2025-09-02T10:48:44.285354+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.251",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: TRIM74 was added\ngene: TRIM74 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TRIM74 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIM74 were set to 40735933\nPhenotypes for gene: TRIM74 were set to Neurodevelopmental disorder, TRIM74-related, MONDO:0700092\nReview for gene: TRIM74 was set to RED\nAdded comment: Only one reported case with DD.\r\n\r\nPMID: 40735933\r\n5yr M presenting from non consanguineous parents with global developmental delay, hypotonia, seizures, and diffuse cerebral atrophy with mega cisterna magna. Parents of the proband were found to be carriers of the variant.\r\nHomozygous variant c.562C > T (p.Pro121Leu) - NFE AF 0.0188% - rare enough for AR\r\n\r\nSupportive functional analysis on human fibroblast showed protein function disruption leading to protein aggregation, proteostasis collapse, and cell death. \nSources: Literature",
"entity_name": "TRIM74",
"entity_type": "gene"
},
{
"created": "2025-09-02T10:42:21.233604+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2936",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: TRIM74 was added\ngene: TRIM74 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: TRIM74 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIM74 were set to 40735933\nPhenotypes for gene: TRIM74 were set to Neurodevelopmental disorder, TRIM74-related, MONDO:0700092\nReview for gene: TRIM74 was set to RED\nAdded comment: Only one reported case with supportive functional assay\r\n\r\nPMID: 40735933 \r\n5yr M presenting from non consanguineous parents with global developmental delay, hypotonia, seizures, and diffuse cerebral atrophy with mega cisterna magna. Parents of the proband were found to be carriers of the variant.\r\nHomozygous variant c.562C > T (p.Pro121Leu) - NFE AF 0.0188% - rare enough for AR \r\n\r\nSupportive functional analysis on human fibroblast showed protein function disruption leading to protein aggregation, proteostasis collapse, and cell death. \nSources: Other",
"entity_name": "TRIM74",
"entity_type": "gene"
},
{
"created": "2025-09-02T08:16:07.197585+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BAZ2B as Amber List (moderate evidence)",
"entity_name": "BAZ2B",
"entity_type": "gene"
},
{
"created": "2025-09-02T08:16:07.187921+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: baz2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "BAZ2B",
"entity_type": "gene"
},
{
"created": "2025-09-02T08:15:50.740820+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BAZ2B: Added comment: Classified as LIMITED by ClinGen.; Changed rating: AMBER; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, BAZ2B-related",
"entity_name": "BAZ2B",
"entity_type": "gene"
},
{
"created": "2025-09-02T08:15:27.440981+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BAZ2B as Amber List (moderate evidence)",
"entity_name": "BAZ2B",
"entity_type": "gene"
},
{
"created": "2025-09-02T08:15:27.434396+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: baz2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "BAZ2B",
"entity_type": "gene"
},
{
"created": "2025-09-02T08:15:06.704030+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BAZ2B: Added comment: Classified as LIMITED by ClinGen.; Changed rating: AMBER",
"entity_name": "BAZ2B",
"entity_type": "gene"
},
{
"created": "2025-09-02T08:14:39.806350+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BAZ2B were changed from Intellectual disability; autism to Neurodevelopmental disorder, MONDO:0700092, BAZ2B-related",
"entity_name": "BAZ2B",
"entity_type": "gene"
},
{
"created": "2025-09-02T08:13:53.295193+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BAZ2B: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, BAZ2B-related",
"entity_name": "BAZ2B",
"entity_type": "gene"
},
{
"created": "2025-09-02T08:13:38.400138+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BAZ2B were changed from Intellectual disability; autism to Neurodevelopmental disorder, MONDO:0700092, BAZ2B-related",
"entity_name": "BAZ2B",
"entity_type": "gene"
},
{
"created": "2025-09-02T08:13:11.471086+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BAZ2B: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, BAZ2B-related",
"entity_name": "BAZ2B",
"entity_type": "gene"
},
{
"created": "2025-09-02T08:12:50.525711+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BAZ2B were changed from Intellectual disability; autism to Neurodevelopmental disorder, MONDO:0700092, BAZ2B-related",
"entity_name": "BAZ2B",
"entity_type": "gene"
},
{
"created": "2025-09-01T20:56:20.982843+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2934",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: BBS2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: BBS2-related ciliopathy, MONDO:1040048; Mode of inheritance: None",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2025-09-01T20:48:46.860533+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2934",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: BAZ2B: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, BAZ2B-related; Mode of inheritance: None",
"entity_name": "BAZ2B",
"entity_type": "gene"
},
{
"created": "2025-09-01T18:49:30.470503+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAP1 were changed from VACTERL; CAKUT to Syndromic disease, MONDO:0002254, TRAP1-related",
"entity_name": "TRAP1",
"entity_type": "gene"
},
{
"created": "2025-09-01T18:49:20.983959+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRAP1: Changed phenotypes: Syndromic disease, MONDO:0002254, TRAP1-related",
"entity_name": "TRAP1",
"entity_type": "gene"
},
{
"created": "2025-09-01T18:49:05.532418+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAP1 were changed from CAKUT; VACTERL to Syndromic disease, MONDO:0002254, TRAP1-related",
"entity_name": "TRAP1",
"entity_type": "gene"
},
{
"created": "2025-09-01T18:48:51.988362+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRAP1: Changed phenotypes: Syndromic disease, MONDO:0002254, TRAP1-related",
"entity_name": "TRAP1",
"entity_type": "gene"
},
{
"created": "2025-09-01T17:41:53.147459+10:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: DEFINITIVE by ClinGen, lumped multiple entities together.; to: DEFINITIVE by ClinGen, lumped multiple entities together. Limb anomalies are a key feature.",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2025-09-01T17:41:38.876351+10:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TP63 as ready",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2025-09-01T17:41:38.862689+10:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tp63 has been classified as Green List (High Evidence).",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2025-09-01T17:41:37.013311+10:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TP63 were changed from Hay-Wells syndrome 106260; Rapp-Hodgkin syndrome 129400; Limb-mammary syndrome 603543; Split-hand/foot malformation 4 605289; Orofacial cleft 8 129400; ULT syndrome 103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292 to TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2025-09-01T17:41:21.411355+10:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2025-09-01T17:39:16.367462+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TP63 were changed from ADULT syndrome, OMIM #103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292; Hay-Wells syndrome, OMIM #106260; Limb-mammary syndrome, OMIM #603543; Orofacial cleft 8, OMIM #618149; Rapp-Hodgkin syndrome, OMIM #129400; Split-hand/foot malformation 4, OMIM #605289 to TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2025-09-01T17:39:01.924495+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TP63: Changed phenotypes: TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2025-09-01T17:38:39.787339+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TP63 as ready",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2025-09-01T17:38:39.776137+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tp63 has been classified as Green List (High Evidence).",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2025-09-01T17:38:37.811115+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TP63 were changed from Orofacial cleft 8, EEC SYNDROME 3, Rapp Hodgkins syndrome, 129400; EEC3; Limb-mammary syndrome, 603543; AEC (Ankyloblepharon filiforme adnatum, Ectodermal defects and Clefting), Hay Wells syndrome 106260; EEC syndrome (Ectrodactyly, Ectodermal dysplasia and Clefting); ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; Cleft lip; Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3, 604292 to TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2025-09-01T17:38:22.130129+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: TP63: DEFINITIVE by ClinGen, lumped multiple disorders.",
"entity_name": "TP63",
"entity_type": "gene"
}
]
}