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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=16",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=14",
"results": [
{
"created": "2026-03-19T19:25:59.746968+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPAS1 were changed from Erythrocytosis, familial, 4, MIM#\t611783 to Erythrocytosis, familial, 4, MIM# 611783; Hereditary anaemia, MONDO:0016624, EPAS1-related",
"entity_name": "EPAS1",
"entity_type": "gene"
},
{
"created": "2026-03-19T19:25:51.182148+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPAS1 were set to 18184961; 18378852; 22367913; 18650473",
"entity_name": "EPAS1",
"entity_type": "gene"
},
{
"created": "2026-03-19T19:25:32.469322+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EPAS1: Added comment: PMID 39613395: reports 3 individuals from 3 unrelated families with heterozygous EPAS1 loss-of-function variants (two de novo frameshifts, one maternally inherited missense) presenting with childhood-onset congenital hypoplastic anaemia characterized by normocytic normochromic anaemia, reticulocytopenia and relative EPO deficiency; additional cardiac and neurological features in some patients. In‑vitro functional assays (Western blot, immunofluorescence, co‑IP, luciferase reporter, qPCR) demonstrate reduced protein abundance, impaired nuclear localisation, defective CBP binding and decreased EPO transcription, supporting pathogenicity.; Changed publications: 18184961, 18378852, 22367913, 18650473, 39613395; Changed phenotypes: Erythrocytosis, familial, 4, MIM# 611783, Hereditary anaemia, MONDO:0016624, EPAS1-related",
"entity_name": "EPAS1",
"entity_type": "gene"
},
{
"created": "2026-03-19T19:24:24.464272+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPAS1 were changed from Familial erythrocytosis (MIM#611783), AD to Familial erythrocytosis (MIM#611783); Hereditary anaemia, MONDO:0016624, EPAS1-related",
"entity_name": "EPAS1",
"entity_type": "gene"
},
{
"created": "2026-03-19T19:24:04.549982+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPAS1 were set to 27292716; 19208626",
"entity_name": "EPAS1",
"entity_type": "gene"
},
{
"created": "2026-03-19T19:23:40.279167+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EPAS1: Changed phenotypes: Hereditary anaemia, MONDO:0016624, EPAS1-related",
"entity_name": "EPAS1",
"entity_type": "gene"
},
{
"created": "2026-03-19T19:23:30.690874+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPAS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 39613395; Phenotypes: Hereditary anemia, MONDO:0016624, EPAS1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EPAS1",
"entity_type": "gene"
},
{
"created": "2026-03-19T18:58:37.655331+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYNC1H1 were set to 25512093; 28196890; 21820100; 32788638; 27549087",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2026-03-19T18:57:57.373949+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DYNC1H1: Changed phenotypes: dyneinopathy MONDO:1040031, Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228, Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563, Spinal muscular atrophy, lower extremity-predominant 1, MIM# 158600",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2026-03-19T18:57:19.457250+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DYNC1H1: Changed phenotypes: dyneinopathy MONDO:1040031, Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228, Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2026-03-19T18:56:51.609260+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DYNC1H1: Changed phenotypes: dyneinopathy MONDO:1040031, Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2026-03-19T18:56:23.199124+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DYNC1H1: Added comment: PMID 38848546 reports 47 individuals from 43 families with pathogenic heterozygous variants in DYNC1H1 (aged 0-59 years). Most individuals presented with divergent neurological and multisystem features such as autonomic features, behavioural disorders, movement disorders, and periventricular lesions. Sensory neuropathy was identified in nine patients (median age of onset 10.6 years), of which five were only diagnosed after the second decade of life, and three had a progressive age-dependent sensory neuropathy. Novel multisystem features included primary immunodeficiency, bilateral sensorineural hearing loss, organ anomalies, and skeletal manifestations, resembling the phenotypic spectrum of other dyneinopathies. Age-dependent biphasic disease course observed with developmental regression in the first decade and, following a period of stability, neurodegenerative progression after the second decade of life. Of note, in several cases neurodegeneration appeared to be prompted by intercurrent systemic infections with double-stranded DNA viruses (Herpesviridae) or single-stranded RNA viruses (Ross-River fever, SARS-CoV-2). Moreover, the disease course appeared to be exacerbated by viral infections regardless of age and/or severity of NDD manifestations, indicating a role of dynein in anti-viral immunity and neuronal health.; Changed publications: 21820100, 32788638, 27549087, 38848546",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2026-03-19T18:49:44.368275+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX41 as ready",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2026-03-19T18:49:44.358497+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx41 has been classified as Green List (High Evidence).",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2026-03-19T18:49:33.300685+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDX41 as Green List (high evidence)",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2026-03-19T18:49:33.290134+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx41 has been classified as Green List (High Evidence).",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2026-03-19T18:49:22.515071+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDX41 was added\ngene: DDX41 was added to Syndromic Retinopathy. Sources: Literature\npreprint tags were added to gene: DDX41.\nMode of inheritance for gene: DDX41 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDX41 were set to 41646732\nPhenotypes for gene: DDX41 were set to Inherited retinal dystrophy, MONDO:0019118, DDX41-related\nReview for gene: DDX41 was set to GREEN\nAdded comment: This study reports 13 individuals from nine unrelated families with biallelic DDX41 variants (missense, frameshift and splice‑affecting) presenting with Leber congenital amaurosis / early‑onset severe retinal dystrophy, often accompanied by neurodevelopmental and skeletal anomalies. The variants are ultra‑rare, segregate in an autosomal recessive pattern, and lead to reduced DDX41 protein levels in patient fibroblasts and in a knock‑in mouse retina, with early ERG deficits and progressive photoreceptor loss. Biochemical assays demonstrate impaired RNA binding and protein instability, supporting loss‑of‑function as the disease mechanism. \nSources: Literature",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2026-03-19T18:45:44.614057+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX41 as ready",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2026-03-19T18:45:44.578043+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx41 has been classified as Green List (High Evidence).",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2026-03-19T18:45:41.266787+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DDX41 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:45:43.413566+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.185",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene NRP1 from panel Hypogonadotropic hypogonadism",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T17:45:43.366676+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.185",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NRP1 was added\ngene: NRP1 was added to Pituitary hormone deficiency. Sources: Expert Review Red,Literature\nMode of inheritance for gene: NRP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NRP1 were set to 34636164; 28334861\nPhenotypes for gene: NRP1 were set to Hypogonadotropic hypogonadism MONDO:0018555",
"entity_name": "NRP1",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:45:43.070385+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4589",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene NRP1 from panel Hypogonadotropic hypogonadism",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T17:45:41.822159+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4589",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NRP1 was added\ngene: NRP1 was added to Mendeliome. Sources: Expert Review Red,Literature\nMode of inheritance for gene: NRP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NRP1 were set to 34636164; 28334861\nPhenotypes for gene: NRP1 were set to Hypogonadotropic hypogonadism MONDO:0018555",
"entity_name": "NRP1",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:45:20.259446+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.87",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: NRP1 as ready",
"entity_name": "NRP1",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:45:20.249706+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.87",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nrp1 has been classified as Red List (Low Evidence).",
"entity_name": "NRP1",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:45:14.616434+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.87",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NRP1 was added\ngene: NRP1 was added to Hypogonadotropic hypogonadism. Sources: Literature\nMode of inheritance for gene: NRP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NRP1 were set to 34636164; 28334861\nPhenotypes for gene: NRP1 were set to Hypogonadotropic hypogonadism MONDO:0018555\nReview for gene: NRP1 was set to RED\nAdded comment: PMID 28334861 and PMID 34636164 report a total of 13 individuals (8 families, 8 unrelated) with heterozygous missense NRP1 variants presenting with isolated hypogonadotropic hypogonadism / Kallmann syndrome (childhood‑adolescent onset, anosmia, low gonadotropins). Several variants inherited from unaffected parents. No functional assays were performed, but the variants are rare and predicted loss‑of‑function. Variants are classified as VUS. Oligogenic inheritance in some probands with additional IHH‑associated gene variants. \nSources: Literature",
"entity_name": "NRP1",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:41:35.261276+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.184",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: NRP2 as ready",
"entity_name": "NRP2",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:41:35.250594+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.184",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nrp2 has been classified as Red List (Low Evidence).",
"entity_name": "NRP2",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:41:24.237273+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4588",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: NRP2 as ready",
"entity_name": "NRP2",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:41:24.227169+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4588",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nrp2 has been classified as Red List (Low Evidence).",
"entity_name": "NRP2",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:40:33.657829+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4588",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene NRP2 from panel Hypogonadotropic hypogonadism",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T17:40:32.480386+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4588",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NRP2 was added\ngene: NRP2 was added to Mendeliome. Sources: Expert Review Red,Literature\nMode of inheritance for gene: NRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NRP2 were set to 34636164; 28334861\nPhenotypes for gene: NRP2 were set to Hypogonadotropic hypogonadism, MONDO:0018555",
"entity_name": "NRP2",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:40:11.615020+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.184",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene NRP2 from panel Hypogonadotropic hypogonadism",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T17:40:11.569016+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.184",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NRP2 was added\ngene: NRP2 was added to Pituitary hormone deficiency. Sources: Expert Review Red,Literature\nMode of inheritance for gene: NRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NRP2 were set to 34636164; 28334861\nPhenotypes for gene: NRP2 were set to Hypogonadotropic hypogonadism, MONDO:0018555",
"entity_name": "NRP2",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:40:02.117478+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.86",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: NRP2 as ready",
"entity_name": "NRP2",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:40:02.110130+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.86",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nrp2 has been classified as Red List (Low Evidence).",
"entity_name": "NRP2",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:39:57.313751+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.86",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: NRP2: Rating: RED; Mode of pathogenicity: None; Publications: 34636164, 28334861; Phenotypes: Hypogonadotropic hypogonadism MONDO:0018555; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NRP2",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:38:42.945708+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.86",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "NRP2",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:38:26.770139+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.86",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NRP2 was added\ngene: NRP2 was added to Hypogonadotropic hypogonadism. Sources: Literature\nMode of inheritance for gene: NRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NRP2 were set to 34636164; 28334861\nPhenotypes for gene: NRP2 were set to Hypogonadotropic hypogonadism, MONDO:0018555\nReview for gene: NRP2 was set to GREEN\nAdded comment: PMID 28334861 reports four individuals with heterozygous NRP2 missense variants presenting with Kallmann syndrome (congenital hypogonadotropic hypogonadism with anosmia). PMID 34636164 reports two unrelated families with heterozygous NRP2 missense variants causing isolated normosmic hypogonadotropic hypogonadism. No functional validation or segregation data were provided for any variant. Variants are too common in population and/or classified as VUS/benign. \nSources: Literature",
"entity_name": "NRP2",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:28:58.716632+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.85",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: PLXNA1 as ready",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:28:58.706350+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.85",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: plxna1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:28:47.900200+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.183",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: PLXNA1 as ready",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:28:47.891208+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.183",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: plxna1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:28:37.124438+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.183",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene PLXNA1 from panel Differences of Sex Development",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T17:28:37.080052+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.183",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PLXNA1 was added\ngene: PLXNA1 was added to Pituitary hormone deficiency. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: PLXNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PLXNA1 were set to 28334861; 30467832; 34636164\nPhenotypes for gene: PLXNA1 were set to Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:28:36.812554+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.85",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene PLXNA1 from panel Differences of Sex Development",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T17:28:36.728225+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.85",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PLXNA1 was added\ngene: PLXNA1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: PLXNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PLXNA1 were set to 28334861; 30467832; 34636164\nPhenotypes for gene: PLXNA1 were set to Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:15:32.200209+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.53",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: TTC26 as ready",
"entity_name": "TTC26",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:15:32.190230+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.53",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ttc26 has been classified as Green List (High Evidence).",
"entity_name": "TTC26",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:15:09.628846+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.53",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene TTC26 from panel Ciliopathies",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T17:15:09.332768+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.53",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TTC26 was added\ngene: TTC26 was added to Renal Ciliopathies and Nephronophthisis. Sources: Expert Review Green,Literature\nMode of inheritance for gene: TTC26 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC26 were set to 34177428; 32617964; 31595528; 24596149; 22718903\nPhenotypes for gene: TTC26 were set to Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534; Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations",
"entity_name": "TTC26",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:14:58.835504+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.182",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: TTC26 as ready",
"entity_name": "TTC26",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:14:58.828044+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.182",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ttc26 has been classified as Red List (Low Evidence).",
"entity_name": "TTC26",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:14:51.675692+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.182",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene TTC26 from panel Hypogonadotropic hypogonadism",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T17:14:51.480461+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.182",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TTC26 was added\ngene: TTC26 was added to Pituitary hormone deficiency. Sources: Expert Review Red,Literature\nMode of inheritance for gene: TTC26 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC26 were set to 32617964\nPhenotypes for gene: TTC26 were set to biliary, renal, neurologic, and skeletal syndrome, MONDO:0859191",
"entity_name": "TTC26",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:12:36.322851+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.84",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: TTC26 as ready",
"entity_name": "TTC26",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:12:36.313013+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.84",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ttc26 has been classified as Red List (Low Evidence).",
"entity_name": "TTC26",
"entity_type": "gene"
},
{
"created": "2026-03-19T17:12:32.757933+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.84",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TTC26 was added\ngene: TTC26 was added to Hypogonadotropic hypogonadism. Sources: Literature\nMode of inheritance for gene: TTC26 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC26 were set to 32617964\nPhenotypes for gene: TTC26 were set to biliary, renal, neurologic, and skeletal syndrome, MONDO:0859191\nReview for gene: TTC26 was set to RED\nAdded comment: PMID 32617964 reports 4 individuals from 2 unrelated consanguineous families with the same homozygous TTC26 variant (c.695A>G, p.Asn232Ser) presenting with pituitary stalk interruption syndrome (PSIS) and multiple anterior pituitary hormone deficiencies (GH, ACTH, TSH), micropenis, growth failure, and additional hepatic, renal, cardiac and skeletal anomalies. The phenotype also includes features of hypogonadotropic hypogonadism (micropenis). No functional validation of the missense variant is provided. \nSources: Literature",
"entity_name": "TTC26",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:58:48.824339+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.181",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: AKT3 as ready",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:58:48.815794+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.181",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: akt3 has been classified as Red List (Low Evidence).",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:58:41.307860+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.181",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: AKT3 was added\ngene: AKT3 was added to Pituitary hormone deficiency. Sources: Literature\nMode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: AKT3 were set to 38459620; 28190287\nPhenotypes for gene: AKT3 were set to overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283\nReview for gene: AKT3 was set to RED\nAdded comment: ClinGen DEFINITIVE association (Jul 2021) with GOF mechanism and only missense variants reported.\r\n\r\nPMID 35665751 reports 1 individual with a de novo AKT3 p.Gln78Arg gain‑of‑function variant causing congenital hypothyroidism (thyroid hypogenesis), megalencephaly and polymicrogyria. PMID 38459620 reports 1 individual with a AKT3 p.Asp322Tyr gain‑of‑function variant causing megalencephaly, growth hormone deficiency and central hypothyroidism.\r\n\r\n\r\nPMID 28190287 reports 1 individual with a de novo AKT3 p.Glu40Lys gain‑of‑function variant causing childhood‑onset megalencephaly, hypotonia, connective‑tissue laxity and growth‑hormone deficiency. PMID 38459620 reports 1 individual with a AKT3 p.Asp322Tyr gain‑of‑function variant causing megalencephaly, growth‑hormone deficiency and central hypothyroidism. \nSources: Literature",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:51:36.319648+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.91",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: AKT3 as ready",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:51:36.313232+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.91",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: akt3 has been classified as Red List (Low Evidence).",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:51:30.894858+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.91",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: AKT3 was added\ngene: AKT3 was added to Congenital hypothyroidism. Sources: Literature\nMode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: AKT3 were set to 38459620; 35665751\nPhenotypes for gene: AKT3 were set to overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283\nReview for gene: AKT3 was set to RED\nAdded comment: ClinGen DEFINITIVE association (Jul 2021) with GOF mechanism and only missense variants reported.\r\n\r\nPMID 35665751 reports 1 individual with a de novo AKT3 p.Gln78Arg gain‑of‑function variant causing congenital hypothyroidism (thyroid hypogenesis), megalencephaly and polymicrogyria. PMID 38459620 reports 1 individual with a AKT3 p.Asp322Tyr gain‑of‑function variant causing megalencephaly, growth hormone deficiency and central hypothyroidism. \nSources: Literature",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:25:33.786120+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.90",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: HIST1H1E as ready",
"entity_name": "HIST1H1E",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:25:33.775985+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.90",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: hist1h1e has been classified as Red List (Low Evidence).",
"entity_name": "HIST1H1E",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:25:28.925406+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.90",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: HIST1H1E was added\ngene: HIST1H1E was added to Congenital hypothyroidism. Sources: Literature\nMode of inheritance for gene: HIST1H1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HIST1H1E were set to 40444808; 34290007\nPhenotypes for gene: HIST1H1E were set to Rahman syndrome, MIM# 617537\nReview for gene: HIST1H1E was set to RED\nAdded comment: Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth. Some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. More than 40 unrelated individuals reported. PTVs result in the same shift in frame and that cluster to a 94-base pair region in the HIST1H1E carboxy terminal domain.\r\n\r\nPMID 34290007 and 40444808 report 2 unrelated individuals with Rahman syndrome with central hypothyroidism. \nSources: Literature",
"entity_name": "HIST1H1E",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:22:19.082770+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.76",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: KCNQ1: Added comment: Additional 1 individual with a rare heterozygous missense KCNQ1 variant (p.P369L) presenting with childhood‑onset central hypothyroidism as part of multiple pituitary hormone deficiency (GH, ACTH, TSH, hypogonadotropic hypogonadism), gingival fibromatosis, dysmorphic facial features, and short stature. The variant was inherited from his unaffected mother.; Changed rating: GREEN; Changed publications: 38987191; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:21:18.375308+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.76",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ1 were changed from Hypopituitarism, MONDO:0005152; Long QT syndrome 1 (192500) to Hypopituitarism, MONDO:0005152",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:21:13.295829+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.75",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: KCNQ1 were set to 29097701",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:21:00.628564+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.180",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: KCNQ1 were set to 29097701",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:20:43.665609+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.89",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: KCNQ1 were set to 29097701",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:20:08.979691+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.74",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: KCNQ1 as Green List (high evidence)",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:20:08.969857+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.74",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: kcnq1 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:19:56.520442+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.73",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene KCNQ1 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T16:19:25.648308+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.88",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: KCNQ1 as ready",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:19:25.637621+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.88",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: kcnq1 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:19:12.083170+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.88",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene KCNQ1 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T16:19:12.019475+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.88",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: KCNQ1 was added\ngene: KCNQ1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNQ1 were set to 29097701\nPhenotypes for gene: KCNQ1 were set to Hypopituitarism, MONDO:0005152",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:19:11.817292+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.72",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene KCNQ1 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T16:18:25.484439+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.179",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ1 were changed from Hypopituitarism, MONDO:0005152; Long QT syndrome 1 (192500) to Hypopituitarism, MONDO:0005152",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:17:56.118060+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.178",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: KCNQ1 as Green List (high evidence)",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:17:56.110926+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.178",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: kcnq1 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:17:34.844535+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.177",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: KCNQ1: Added comment: Additional 1 individual with a rare heterozygous missense KCNQ1 variant (p.P369L) presenting with childhood‑onset central hypothyroidism as part of multiple pituitary hormone deficiency (GH, ACTH, TSH, hypogonadotropic hypogonadism), gingival fibromatosis, dysmorphic facial features, and short stature. The variant was inherited from his unaffected mother.; Changed rating: GREEN; Changed publications: 38987191",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:11:16.630168+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4587",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene MAMLD1 from panel Congenital hypothyroidism",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T16:10:56.175983+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.87",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: MAMLD1 as ready",
"entity_name": "MAMLD1",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:10:56.167694+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.87",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mamld1 has been classified as Red List (Low Evidence).",
"entity_name": "MAMLD1",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:10:52.786611+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.87",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MAMLD1 was added\ngene: MAMLD1 was added to Congenital hypothyroidism. Sources: Literature\nMode of inheritance for gene: MAMLD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: MAMLD1 were set to 36898841\nPhenotypes for gene: MAMLD1 were set to Congenital hypothyroidism MONDO:0018612\nReview for gene: MAMLD1 was set to RED\nAdded comment: PMID 36898841 reports 2 individuals from 2 unrelated South East Asian families with hemizygous X‑linked MAMLD1 variants presenting with congenital hypothyroidism due to dyshormonogenesis. Both patients have early‑onset hypothyroidism (30 days and 15 years). Functional assays show gain‑of‑function effects on non‑canonical Notch signalling, increasing HES3 expression and suppressing HES1‑dependent thyroid hormone biosynthesis genes.\r\n\r\nHowever, the non‑frameshift duplication p.Q477dup was maternally inherited and has a relatively high allele frequency in East Asian populations (0.54 %), and the in silico predictions for the de novo missense p.C942Y variant are benign. \nSources: Literature",
"entity_name": "MAMLD1",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:05:10.657096+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.86",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: OTUD6B as ready",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:05:10.646755+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.86",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: otud6b has been classified as Red List (Low Evidence).",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:05:08.838174+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.86",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: OTUD6B as Red List (low evidence)",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:05:08.828223+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.86",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: otud6b has been classified as Red List (Low Evidence).",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:05:03.338683+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.85",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: OTUD6B: Rating: RED; Mode of pathogenicity: None; Publications: 41188742, 32924626; Phenotypes: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:02:08.207268+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.85",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene OTUD6B from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T16:02:08.131554+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.85",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: OTUD6B was added\ngene: OTUD6B was added to Congenital hypothyroidism. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: OTUD6B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OTUD6B were set to 28343629; 32924626; 31147255\nPhenotypes for gene: OTUD6B were set to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:00:54.237270+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.83",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: SOX11 as ready",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:00:54.227461+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.83",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sox11 has been classified as Green List (High Evidence).",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2026-03-19T16:00:05.179346+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.83",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene SOX11 from panel Differences of Sex Development",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T16:00:05.103336+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.83",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SOX11 was added\ngene: SOX11 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert Review\nMode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOX11 were set to 29459093; 24886874; 33086258; 33785884; 35642566; 35341651\nPhenotypes for gene: SOX11 were set to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866",
"entity_name": "SOX11",
"entity_type": "gene"
}
]
}