HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=193",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=191",
"results": [
{
"created": "2025-08-04T20:13:47.851934+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAH6 as Red List (low evidence)",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-08-04T20:13:47.840487+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah6 has been classified as Red List (Low Evidence).",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-08-04T20:13:24.103482+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: DNAH6: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH6 variants to primary ciliary dyskinesia (MONDO:0016575) as 'Disputed'. More information can be found in https://search.clinicalgenome.org/CCID:008758.",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-08-04T20:12:48.794201+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNAH6: Added comment: DISPUTED by ClinGen.; Changed rating: RED",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-08-04T20:11:53.732297+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAH8 as Red List (low evidence)",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2025-08-04T20:11:53.719828+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah8 has been classified as Red List (Low Evidence).",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2025-08-04T20:11:16.230886+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: DNAH8.",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2025-08-04T20:08:10.953801+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFIA as ready",
"entity_name": "NFIA",
"entity_type": "gene"
},
{
"created": "2025-08-04T20:08:10.938873+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfia has been classified as Green List (High Evidence).",
"entity_name": "NFIA",
"entity_type": "gene"
},
{
"created": "2025-08-04T20:08:05.949985+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFIA as Green List (high evidence)",
"entity_name": "NFIA",
"entity_type": "gene"
},
{
"created": "2025-08-04T20:08:05.943316+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfia has been classified as Green List (High Evidence).",
"entity_name": "NFIA",
"entity_type": "gene"
},
{
"created": "2025-08-04T20:07:44.847209+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NFIA was added\ngene: NFIA was added to Polymicrogyria and Schizencephaly. Sources: Expert Review\nMode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NFIA were set to 27081522; 28452798; 33973697; 36553517\nPhenotypes for gene: NFIA were set to Brain malformations with or without urinary tract defects, MIM#613735\nReview for gene: NFIA was set to GREEN\nAdded comment: Spectrum of brain malformations reported in multiple inviduals including polymicrogyria. \nSources: Expert Review",
"entity_name": "NFIA",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:58:21.063462+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU5A-1 as ready",
"entity_name": "RNU5A-1",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:58:21.052640+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu5a-1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNU5A-1",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:58:16.225675+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU5A-1 as ready",
"entity_name": "RNU5A-1",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:58:16.215602+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu5a-1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNU5A-1",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:58:10.300113+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU5A-1 as Amber List (moderate evidence)",
"entity_name": "RNU5A-1",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:58:10.293686+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu5a-1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNU5A-1",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:58:00.185569+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU5A-1 as Amber List (moderate evidence)",
"entity_name": "RNU5A-1",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:58:00.175105+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu5a-1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNU5A-1",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:57:44.037872+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU5A-1 was added\ngene: RNU5A-1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RNU5A-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RNU5A-1 were set to 40379786\nPhenotypes for gene: RNU5A-1 were set to Neurodevelopmental disorder (MONDO:0700092), RNU5A-1 related\nReview for gene: RNU5A-1 was set to AMBER\nAdded comment: PMID: 40379786 (2025) - three unrelated individuals with de novo variants in the RNU5A-1 gene (classified as VUS) and a neurodevelopmental disorder. Six individuals with rare de novo variants were identified in total but clinical details were only available for 3/6. Of these three individuals, two harboured the same variant (n.40_41insA) on the maternal allele, while the third individual harboured a different variant (n.39del) but also on the 5′ loop I domain of RNU5A-1. Clinical data showed neurodevelopmental abnormalities (mild ID (2), severe ID (1), epilepsy (2), brain MRI abnormalities (1)) with variable congenital malformations. \nSources: Literature",
"entity_name": "RNU5A-1",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:56:49.933053+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU5A-1 was added\ngene: RNU5A-1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RNU5A-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RNU5A-1 were set to 40379786\nPhenotypes for gene: RNU5A-1 were set to Neurodevelopmental disorder (MONDO:0700092), RNU5A-1 related\nReview for gene: RNU5A-1 was set to AMBER\nAdded comment: PMID: 40379786 (2025) - three unrelated individuals with de novo variants in the RNU5A-1 gene (classified as VUS) and a neurodevelopmental disorder. Six individuals with rare de novo variants were identified in total but clinical details were only available for 3/6. Of these three individuals, two harboured the same variant (n.40_41insA) on the maternal allele, while the third individual harboured a different variant (n.39del) but also on the 5′ loop I domain of RNU5A-1. Clinical data showed neurodevelopmental abnormalities (mild ID (2), severe ID (1), epilepsy (2), brain MRI abnormalities (1)) with variable congenital malformations. \nSources: Literature",
"entity_name": "RNU5A-1",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:51:18.634262+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMFR were changed from Spastic paraplegia 89, autosomal recessive, MIM# 620379 to Spastic paraplegia 89, autosomal recessive, MIM# 620379; Inborn error of immunity, MONDO:0003778, AMFR-related",
"entity_name": "AMFR",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:51:06.810464+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMFR were set to 37119330",
"entity_name": "AMFR",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:50:47.904726+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AMFR: Added comment: PMID 38277122:\r\n\r\nSingle case report of 3-year-old boy in whom varicella followed a complicated course with thrombocytopenia, haemorrhagic and necrotic lesions, pneumonitis, and intermittent encephalopathy. HLH was the working diagnosis. Although the clinical condition improved, longstanding hemophagocytosis followed despite therapy.\r\n\r\nRare monoallelic variant in autocrine motility factor receptor (AMFR) identified. AMFR encodes a ubiquitin ligase involved in innate cytosolic DNA sensing and interferon (IFN) production through the cyclic GMP-AMP synthase-stimulator of IFN genes (cGAS-STING) pathway.\r\n\r\nPeripheral blood mononuclear cells (PBMCs) from the patient exhibited impaired signaling downstream of STING in response dsDNA and 2'3'-cGAMP, agonists of cGAS and STING, respectively, and fibroblasts from the patient showed impaired type I IFN responses and significantly increased VZV replication. Overexpression of the variant AMFR R594C resulted in decreased K27-linked STING ubiquitination compared to WT AMFR. Moreover, ImageStream technology revealed reduced STING trafficking from ER to Golgi in cells expressing the patient AMFR R594C variant. This was supported by a dose-dependent dominant negative effect of expression of the patient AMFR variant as measured by IFN-β reporter gene assay. Finally, lentiviral transduction with WT AMFR partially reconstituted 2'3'-cGAMP-induced STING-mediated signaling and ISG expression in patient PBMCs. This work links defective AMFR-STING signaling to severe VZV disease and hyperinflammation and suggests a direct role for cGAS-STING in the control of viral infections in humans.\r\n\r\nRED for this association.; Changed publications: 38277122; Changed phenotypes: Spastic paraplegia 89, autosomal recessive, MIM# 620379, Inborn error of immunity, MONDO:0003778, AMFR-related",
"entity_name": "AMFR",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:49:35.127317+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMFR as ready",
"entity_name": "AMFR",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:49:35.117066+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amfr has been classified as Red List (Low Evidence).",
"entity_name": "AMFR",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:49:18.190554+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMFR was added\ngene: AMFR was added to Disorders of immune dysregulation. Sources: Expert Review\nMode of inheritance for gene: AMFR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AMFR were set to 38277122\nPhenotypes for gene: AMFR were set to Inborn error of immunity, MONDO:0003778, AMFR-related\nReview for gene: AMFR was set to RED\nAdded comment: Single case report of 3-year-old boy in whom varicella followed a complicated course with thrombocytopenia, haemorrhagic and necrotic lesions, pneumonitis, and intermittent encephalopathy. HLH was the working diagnosis. Although the clinical condition improved, longstanding hemophagocytosis followed despite therapy.\r\n\r\nRare monoallelic variant in autocrine motility factor receptor (AMFR) identified. AMFR encodes a ubiquitin ligase involved in innate cytosolic DNA sensing and interferon (IFN) production through the cyclic GMP-AMP synthase-stimulator of IFN genes (cGAS-STING) pathway.\r\n\r\nPeripheral blood mononuclear cells (PBMCs) from the patient exhibited impaired signaling downstream of STING in response dsDNA and 2'3'-cGAMP, agonists of cGAS and STING, respectively, and fibroblasts from the patient showed impaired type I IFN responses and significantly increased VZV replication. Overexpression of the variant AMFR R594C resulted in decreased K27-linked STING ubiquitination compared to WT AMFR. Moreover, ImageStream technology revealed reduced STING trafficking from ER to Golgi in cells expressing the patient AMFR R594C variant. This was supported by a dose-dependent dominant negative effect of expression of the patient AMFR variant as measured by IFN-β reporter gene assay. Finally, lentiviral transduction with WT AMFR partially reconstituted 2'3'-cGAMP-induced STING-mediated signaling and ISG expression in patient PBMCs. This work links defective AMFR-STING signaling to severe VZV disease and hyperinflammation and suggests a direct role for cGAS-STING in the control of viral infections in humans. \nSources: Expert Review",
"entity_name": "AMFR",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:39:36.518883+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASXL1 were changed from Bohring-Opitz syndrome , MIM#605039 to Bohring-Opitz syndrome , MIM#605039; Combined immunodeficiency, MONDO:0015131, ASXL1-related",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:39:21.097831+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASXL1 were set to 29446906; 21706002",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:39:05.036164+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ASXL1: Added comment: PMID 40742536. Single individual with biallelic variants reported. The patient had a history of haematologic abnormalities and viral-associated complications, including chronic macrocytosis, persistent vaccine-strain rubella granulomas, and EBV-associated Hodgkin lymphoma. Immunophenotyping revealed loss of B cells, hypogammaglobulinemia, and impairments in cytotoxic T and NK cell populations. T cells exhibited skewing toward an exhausted memory phenotype, global DNA methylation loss, and increased epigenetic aging. These aberrations were ameliorated by wild-type ASXL1 transduction.\r\n\r\nNote mono allelic variants are associated with Bohring Opitz syndrome and somatic variants are associated with clonal haematopoiesis.\r\n\r\nRED for biallelic association.; Changed publications: 29446906, 21706002, 40742536; Changed phenotypes: Bohring-Opitz syndrome , MIM#605039, Combined immunodeficiency, MONDO:0015131, ASXL1-related",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:37:33.854675+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASXL1 as ready",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:37:33.844823+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asxl1 has been classified as Red List (Low Evidence).",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:37:28.202440+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASXL1 was added\ngene: ASXL1 was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: ASXL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASXL1 were set to 40742536\nPhenotypes for gene: ASXL1 were set to Combined immunodeficiency, MONDO:0015131, ASXL1-related\nReview for gene: ASXL1 was set to RED\nAdded comment: Single individual with biallelic variants reported. The patient had a history of haematologic abnormalities and viral-associated complications, including chronic macrocytosis, persistent vaccine-strain rubella granulomas, and EBV-associated Hodgkin lymphoma. Immunophenotyping revealed loss of B cells, hypogammaglobulinemia, and impairments in cytotoxic T and NK cell populations. T cells exhibited skewing toward an exhausted memory phenotype, global DNA methylation loss, and increased epigenetic aging. These aberrations were ameliorated by wild-type ASXL1 transduction.\r\n\r\nNote mono allelic variants are associated with Bohring Opitz syndrome and somatic variants are associated with clonal haematopoiesis. \nSources: Literature",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:32:14.472631+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RCC1 as ready",
"entity_name": "RCC1",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:32:14.462329+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rcc1 has been classified as Green List (High Evidence).",
"entity_name": "RCC1",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:32:07.351118+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RCC1 as Green List (high evidence)",
"entity_name": "RCC1",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:32:07.341334+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rcc1 has been classified as Green List (High Evidence).",
"entity_name": "RCC1",
"entity_type": "gene"
},
{
"created": "2025-08-04T17:31:52.048925+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RCC1 was added\ngene: RCC1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: RCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RCC1 were set to 40683276\nPhenotypes for gene: RCC1 were set to Hereditary peripheral neuropathy, MONDO:0020127, RCC1-related\nReview for gene: RCC1 was set to GREEN\nAdded comment: 24 individuals from 12 families reported with severe, acute-onset axonal neuropathy following infection (13 female and 11 male patients, with a mean age at diagnosis of 1 year 10 months [SD 2·27]).\r\n\r\nEight biallelic missense variants in RCC1 identified.\r\n\r\nPatients had variable phenotypes, ranging from rapidly progressive fatal axonal neuropathy to mild motor neuropathy with impaired walking. Neurological presentation was often secondary to an infection, resulting in initial misdiagnoses of Guillain-Barré syndrome in several patients. 15 children had disease recurrence. The disease was fatal in 15 patients.\r\n\r\nThe RCC1 variants coded for proteins that alter GDP-to-GTP exchange activity and had reduced thermal stability in vitro. In primary fibroblasts, heat shock or oxidative stress revealed defects in Ran nuclear localisation and impaired nucleocytoplasmic transport. A Drosophila model of the disease revealed a fatal intolerance to oxidative stress. \nSources: Expert Review",
"entity_name": "RCC1",
"entity_type": "gene"
},
{
"created": "2025-08-04T16:24:20.972836+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.77",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: ERCC1 was added\ngene: ERCC1 was added to Growth failure. Sources: Literature\nMode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC1 were set to PMID: 40684071\nPhenotypes for gene: ERCC1 were set to Hepatorenal syndrome, MONDO:0001382, ERCC1-related\nReview for gene: ERCC1 was set to GREEN\nAdded comment: ERCC1 encodes a part of a multifunctional endonuclease involved in nucleotide excision repair (NER) and interstrand crosslink (ICL) repair.\r\n\r\nAdditional literature published further defining phenotypic spectrum.\r\nNow more than 7 individuals from 4 families who present with a multi system disorder including progressive cholestatic hepatic dysfunction (100%) which required transplantation in some. 4 individuals developed hepatocellular carcinoma.\r\nOther features included: photosensitivity, growth restriction, renal impairment/nephrocalcinosis and mild developmental issues.\r\n\r\nLOF proposed mechanism with supportive functional studies including western blot from affected individual's fibroblasts showing reduced ERCC1 levels, reduced DNA repair following UV radiation, abnormal chromosomal breakage in response to mitomycin C.\r\n\r\nVariant types include missense, splice site, deletion and NMD predicted. Some missense variants proposed to be hypomorphic. \nSources: Literature",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2025-08-04T16:22:43.055454+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "1.0",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: ERCC1 was added\ngene: ERCC1 was added to Cholestasis. Sources: Literature\nMode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC1 were set to PMID: 40684071\nPhenotypes for gene: ERCC1 were set to Hepatorenal syndrome, MONDO:0001382, ERCC1-related\nReview for gene: ERCC1 was set to GREEN\nAdded comment: ERCC1 encodes a part of a multifunctional endonuclease involved in nucleotide excision repair (NER) and interstrand crosslink (ICL) repair.\r\n\r\nAdditional literature published further defining phenotypic spectrum.\r\nNow more than 7 individuals from 4 families who present with a multi system disorder including progressive cholestatic hepatic dysfunction (100%) which required transplantation in some. 4 individuals developed hepatocellular carcinoma.\r\nOther features included: photosensitivity, growth restriction, renal impairment/nephrocalcinosis and mild developmental issues.\r\n\r\nLOF proposed mechanism with supportive functional studies including western blot from affected individual's fibroblasts showing reduced ERCC1 levels, reduced DNA repair following UV radiation, abnormal chromosomal breakage in response to mitomycin C.\r\n\r\nVariant types include missense, splice site, deletion and NMD predicted. Some missense variants proposed to be hypomorphic. \nSources: Literature",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2025-08-04T16:20:34.055960+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2793",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40684071; Phenotypes: Hepatorenal syndrome, MONDO:0001382, ERCC1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2025-08-04T16:20:17.110486+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome type IX; syndromic hypopituitarism to Orofaciodigital syndrome type IX; syndromic hypopituitarism; Retinitis pigmentosa 100, MIM# 621280",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2025-08-04T16:19:58.927023+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBC1D32 were set to 24285566; 32573025; 32060556; 31130284",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2025-08-04T16:19:03.156601+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TBC1D32: Added comment: Association with RP:\r\nPMID 37768732: 4 individuals from three unrelated families with bi-allelic variants as per review by Achchuthan Shamugasundram. Some supportive functional data. PMID 39930170: fourth family reported.; Changed publications: 24285566, 32573025, 32060556, 31130284, 39930170; Changed phenotypes: Orofaciodigital syndrome type IX, syndromic hypopituitarism, Retinitis pigmentosa 100, MIM# 621280",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2025-08-04T16:17:00.289170+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D32 as ready",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2025-08-04T16:17:00.281893+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d32 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2025-08-04T16:16:57.473936+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBC1D32 as Green List (high evidence)",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2025-08-04T16:16:57.467042+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d32 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2025-08-04T16:16:47.400190+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBC1D32 was added\ngene: TBC1D32 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review\nMode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBC1D32 were set to 37768732; 39930170\nPhenotypes for gene: TBC1D32 were set to Retinitis pigmentosa 100, MIM#\t621280\nReview for gene: TBC1D32 was set to GREEN\nAdded comment: PMID 37768732: 4 individuals from three unrelated families with bi-allelic variants. Some supportive functional data.\r\nPMID 39930170: fourth family reported.\r\n\r\nBiallelic variants in this gene are also associated with a multi-system ciliopathy. \nSources: Expert Review",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:42:24.001579+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNHD1 as ready",
"entity_name": "DNHD1",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:42:23.991379+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnhd1 has been classified as Green List (High Evidence).",
"entity_name": "DNHD1",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:41:44.416855+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNHD1 as Green List (high evidence)",
"entity_name": "DNHD1",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:41:44.406140+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnhd1 has been classified as Green List (High Evidence).",
"entity_name": "DNHD1",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:41:35.344238+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNHD1: Changed rating: GREEN",
"entity_name": "DNHD1",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:41:25.418597+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNHD1 was added\ngene: DNHD1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: DNHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNHD1 were set to 34932939\nPhenotypes for gene: DNHD1 were set to Spermatogenic failure 65, MIM# 619712\nAdded comment: Biallelic DNHD1 variants identified in 8 unrelated probands with asthenoteratozoospermia, reduced sperm motility and abnormal sperm morphology. DNHD1 knockout mice were infertile and had significantly reduced sperm concentration and motility rates, consistent with human individuals. \nSources: Literature",
"entity_name": "DNHD1",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:40:10.596086+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BSN were changed from Epilepsy MONDO:0005027 to Neurodevelopmental disorder (MONDO:0700092), BSN-related",
"entity_name": "BSN",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:39:39.216756+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BSN: Added comment: Guzman et al 2025: Described 12 additional patients with missense (3/12) and premature termination variants (9/12) which included de novo and inherited variants, suggesting incomplete penetrance.\r\n\r\nThey assessed all reported patients (n=29) which revealed common clinical characteristics including epilepsy(13/29), febrile seizures (7/29), generalised tonic-clonic seizures (5/29), and focal-onset seizures (3/29). Behavioural phenotypes were present in almost half of all individuals (14/29), which included ADHD (7/29) and autistic behaviour (5/29). Additional common features included developmental delay (11/29), obesity (10/29), and delayed speech (8/29). In adults with BSN PTVs, milder features were common, suggesting phenotypic variability, including a range of individuals without obvious neurodevelopmental features (7/29).; Changed rating: GREEN; Changed publications: 40393460; Changed phenotypes: Neurodevelopmental disorder (MONDO:0700092), BSN-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BSN",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:39:04.834152+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BSN were changed from Epilepsy MONDO:0005027 to Neurodevelopmental disorder (MONDO:0700092), BSN-related",
"entity_name": "BSN",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:38:48.801749+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BSN: Changed rating: GREEN; Changed phenotypes: Neurodevelopmental disorder (MONDO:0700092), BSN-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BSN",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:37:58.431007+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BSN as ready",
"entity_name": "BSN",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:37:58.419818+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bsn has been classified as Green List (High Evidence).",
"entity_name": "BSN",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:37:47.626471+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BSN as Green List (high evidence)",
"entity_name": "BSN",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:37:47.616046+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bsn has been classified as Green List (High Evidence).",
"entity_name": "BSN",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:37:25.980086+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BSN was added\ngene: BSN was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: BSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BSN were set to 40393460\nPhenotypes for gene: BSN were set to Neurodevelopmental disorder (MONDO:0700092), BSN-related\nReview for gene: BSN was set to GREEN\nAdded comment: Guzman et al 2025: Described 12 additional patients with missense (3/12) and premature termination variants (9/12) which included de novo and inherited variants, suggesting incomplete penetrance.\r\n\r\nThey assessed all reported patients (n=29) which revealed common clinical characteristics including epilepsy(13/29), febrile seizures (7/29), generalised tonic-clonic seizures (5/29), and focal-onset seizures (3/29). Behavioural phenotypes were present in almost half of all individuals (14/29), which included ADHD (7/29) and autistic behaviour (5/29). Additional common features included developmental delay (11/29), obesity (10/29), and delayed speech (8/29). In adults with BSN PTVs, milder features were common, suggesting phenotypic variability, including a range of individuals without obvious neurodevelopmental features (7/29). \nSources: Expert Review",
"entity_name": "BSN",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:33:35.329352+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGF10 as ready",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:33:35.318965+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf10 has been classified as Green List (High Evidence).",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:33:31.334733+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FGF10 as Green List (high evidence)",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:33:31.323567+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf10 has been classified as Green List (High Evidence).",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:33:12.258864+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGF10 was added\ngene: FGF10 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list\nMode of inheritance for gene: FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGF10 were set to 30639323; 30429870; 9916808\nPhenotypes for gene: FGF10 were set to Lacrimoauriculodentodigital (LAAD) syndrome - pulmonary hypoplasia\nReview for gene: FGF10 was set to GREEN\nAdded comment: Association with pulmonary hypoplasia and interstitial lung disease reported in multiple families. \nSources: Expert list",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:29:44.825589+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR6A1 were changed from Craniofacial microsomia MONDO:0015397 to Syndromic disease, MONDO:0002254, NR6A1-related",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:29:21.912979+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NR6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disease, MONDO:0002254, NR6A1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:29:04.924934+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR6A1 were changed from Craniofacial microsomia MONDO:0015397 to Syndromic disease, MONDO:0002254, NR6A1-related",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:28:43.902420+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NR6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disease, MONDO:0002254, NR6A1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:28:24.474379+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR6A1 were changed from Craniofacial microsomia MONDO:0015397 to Syndromic disease, MONDO:0002254, NR6A1-related",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:27:56.582506+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NR6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disease, MONDO:0002254, NR6A1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:26:19.842866+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR6A1 as ready",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:26:19.835505+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr6a1 has been classified as Green List (High Evidence).",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:25:57.918746+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NR6A1 as Green List (high evidence)",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:25:57.908878+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr6a1 has been classified as Green List (High Evidence).",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:25:42.284117+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NR6A1 was added\ngene: NR6A1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: NR6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NR6A1 were set to 39606382\nPhenotypes for gene: NR6A1 were set to Syndromic disease, MONDO:0002254, NR6A1-related\nReview for gene: NR6A1 was set to GREEN\nAdded comment: 6 unrelated families with heterozygous rare variants (missense, nonsense, frameshift, or large deletion) with incomplete penetrance and variable expressivity. Colobomatous microphthalmia, missing vertebrae and congenital kidney abnormalities characterised the phenotype of the families. Also, supporting zebrafish model. Loss of function is the expected mechanism of disease. \nSources: Literature",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:23:18.100914+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2789",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: BSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 40393460; Phenotypes: Epilepsy (MONDO:0005027), BSN-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "BSN",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:19:41.039421+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH2 as ready",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:19:41.028850+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch2 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:19:37.440617+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOTCH2 as Green List (high evidence)",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:19:37.433160+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch2 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:19:29.313444+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOTCH2 was added\ngene: NOTCH2 was added to Stroke. Sources: Expert Review\nMode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOTCH2 were set to 30761079; 38400955; 25465847\nPhenotypes for gene: NOTCH2 were set to Alagille syndrome 2\t610205\nReview for gene: NOTCH2 was set to GREEN\nAdded comment: Multiple reports of vascular abnormalities and stroke in Alagille syndrome, can be difficult to diagnose clinically. \nSources: Expert Review",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:17:56.449623+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JAG1 as ready",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:17:56.439620+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jag1 has been classified as Green List (High Evidence).",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:17:40.173485+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JAG1 as Green List (high evidence)",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:17:40.162794+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jag1 has been classified as Green List (High Evidence).",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2025-08-01T16:17:32.356742+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAG1 was added\ngene: JAG1 was added to Stroke. Sources: Expert Review\nMode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: JAG1 were set to 30761079; 38400955; 25465847\nPhenotypes for gene: JAG1 were set to Alagille syndrome 1, MIM#\t118450\nReview for gene: JAG1 was set to GREEN\nAdded comment: Multiple reports of vascular abnormalities and stroke in Alagille syndrome, can be difficult to diagnose clinically. \nSources: Expert Review",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2025-08-01T15:39:54.786712+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD6 as ready",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2025-08-01T15:39:54.770732+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad6 has been classified as Green List (High Evidence).",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2025-08-01T15:39:45.598489+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMAD6 as Green List (high evidence)",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2025-08-01T15:39:45.568050+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad6 has been classified as Green List (High Evidence).",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2025-07-30T15:52:51.733341+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH10 as ready",
"entity_name": "DNAH10",
"entity_type": "gene"
},
{
"created": "2025-07-30T15:52:51.726632+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah10 has been classified as Green List (High Evidence).",
"entity_name": "DNAH10",
"entity_type": "gene"
},
{
"created": "2025-07-30T15:52:48.028128+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAH10 as Green List (high evidence)",
"entity_name": "DNAH10",
"entity_type": "gene"
},
{
"created": "2025-07-30T15:52:48.017767+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah10 has been classified as Green List (High Evidence).",
"entity_name": "DNAH10",
"entity_type": "gene"
}
]
}