HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=49",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=47",
"results": [
{
"created": "2026-01-29T13:08:37.392922+11:00",
"panel_name": "Hyperparathyroidism",
"panel_id": 4526,
"panel_version": "0.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: CDC73 as ready",
"entity_name": "CDC73",
"entity_type": "gene"
},
{
"created": "2026-01-29T13:08:37.381426+11:00",
"panel_name": "Hyperparathyroidism",
"panel_id": 4526,
"panel_version": "0.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cdc73 has been classified as Green List (High Evidence).",
"entity_name": "CDC73",
"entity_type": "gene"
},
{
"created": "2026-01-29T13:08:18.539296+11:00",
"panel_name": "Hyperparathyroidism",
"panel_id": 4526,
"panel_version": "0.9",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene GCM2 from panel Hypercalcaemia",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-29T13:08:18.481943+11:00",
"panel_name": "Hyperparathyroidism",
"panel_id": 4526,
"panel_version": "0.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GCM2 was added\ngene: GCM2 was added to Hyperparathyroidism. Sources: Expert Review Green,Literature\nMode of inheritance for gene: GCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GCM2 were set to 27745835\nPhenotypes for gene: GCM2 were set to Hyperparathyroidism 4, OMIM #617343\nPenetrance for gene: GCM2 were set to unknown\nMode of pathogenicity for gene: GCM2 was set to Other",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2026-01-29T13:07:42.600757+11:00",
"panel_name": "Hyperparathyroidism",
"panel_id": 4526,
"panel_version": "0.8",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene RET from panel Calcium and Phosphate disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-29T13:07:42.539722+11:00",
"panel_name": "Hyperparathyroidism",
"panel_id": 4526,
"panel_version": "0.8",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RET was added\ngene: RET was added to Hyperparathyroidism. Sources: Expert Review Green,Expert list,Expert Review Green,Expert Review\nMode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RET were set to Multiple endocrine neoplasia IIA, MIM# 171400; Multiple endocrine neoplasia IIB, MIM# 162300",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2026-01-29T13:07:22.035735+11:00",
"panel_name": "Hyperparathyroidism",
"panel_id": 4526,
"panel_version": "0.7",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene MEN1 from panel Calcium and Phosphate disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-29T13:07:21.971964+11:00",
"panel_name": "Hyperparathyroidism",
"panel_id": 4526,
"panel_version": "0.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MEN1 was added\ngene: MEN1 was added to Hyperparathyroidism. Sources: Expert Review Green,Expert list,Expert list\nMode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MEN1 were set to PMID: 31797261, 14985373\nPhenotypes for gene: MEN1 were set to Multiple endocrine neoplasia 1 MIM#131100",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2026-01-29T13:06:14.892051+11:00",
"panel_name": "Hyperparathyroidism",
"panel_id": 4526,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene CDKN1B from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-29T13:06:14.842454+11:00",
"panel_name": "Hyperparathyroidism",
"panel_id": 4526,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CDKN1B was added\ngene: CDKN1B was added to Hyperparathyroidism. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDKN1B were set to 24819502; 17030811; 23555276\nPhenotypes for gene: CDKN1B were set to Multiple endocrine neoplasia type 4, MEN4, OMIM #610755",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2026-01-29T13:05:29.486958+11:00",
"panel_name": "Hyperparathyroidism",
"panel_id": 4526,
"panel_version": "0.5",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene CDC73 from panel Hypercalcaemia",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-29T13:05:29.435558+11:00",
"panel_name": "Hyperparathyroidism",
"panel_id": 4526,
"panel_version": "0.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CDC73 was added\ngene: CDC73 was added to Hyperparathyroidism. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDC73 were set to 12434154\nPhenotypes for gene: CDC73 were set to Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000",
"entity_name": "CDC73",
"entity_type": "gene"
},
{
"created": "2026-01-29T13:04:48.136666+11:00",
"panel_name": "Familial hypocalciuric hypercalcaemia",
"panel_id": 4525,
"panel_version": "0.3",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "HPO terms changed from to Hypocalciuria, HP:0003127; Hypercalcemia, HP:0003072",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-29T13:01:53.070545+11:00",
"panel_name": "Hyperparathyroidism",
"panel_id": 4526,
"panel_version": "0.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CASR as Green List (high evidence)",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2026-01-29T13:01:53.056599+11:00",
"panel_name": "Hyperparathyroidism",
"panel_id": 4526,
"panel_version": "0.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: casr has been classified as Green List (High Evidence).",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2026-01-29T13:01:49.871102+11:00",
"panel_name": "Familial hypocalciuric hypercalcaemia",
"panel_id": 4525,
"panel_version": "0.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CASR as Green List (high evidence)",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2026-01-29T13:01:49.859274+11:00",
"panel_name": "Familial hypocalciuric hypercalcaemia",
"panel_id": 4525,
"panel_version": "0.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: casr has been classified as Green List (High Evidence).",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2026-01-29T13:01:45.286617+11:00",
"panel_name": "Hyperparathyroidism",
"panel_id": 4526,
"panel_version": "0.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: CASR as ready",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2026-01-29T13:01:45.257775+11:00",
"panel_name": "Hyperparathyroidism",
"panel_id": 4526,
"panel_version": "0.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: casr has been classified as Red List (Low Evidence).",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2026-01-29T13:01:42.061211+11:00",
"panel_name": "Familial hypocalciuric hypercalcaemia",
"panel_id": 4525,
"panel_version": "0.1",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: CASR as ready",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2026-01-29T13:01:42.048621+11:00",
"panel_name": "Familial hypocalciuric hypercalcaemia",
"panel_id": 4525,
"panel_version": "0.1",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: casr has been classified as Red List (Low Evidence).",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2026-01-29T13:01:36.765969+11:00",
"panel_name": "Familial hypocalciuric hypercalcaemia",
"panel_id": 4525,
"panel_version": "0.1",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CASR was added\ngene: CASR was added to Familial hypocalciuric hypercalcaemia. Sources: Genomics England PanelApp\nMode of inheritance for gene: CASR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CASR were set to 7916660,19423559,9011580,7717399,17698911,7726161\nPhenotypes for gene: CASR were set to Familial hypocalciuric hypercalcemia 1, MONDO:0007791\nReview for gene: CASR was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Genomics England PanelApp",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2026-01-29T13:01:34.752320+11:00",
"panel_name": "Hyperparathyroidism",
"panel_id": 4526,
"panel_version": "0.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CASR was added\ngene: CASR was added to Hyperparathyroidism. Sources: Genomics England PanelApp\nMode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: CASR were set to 8675635,15292296,9253359,8675635,25162666,28740527\nPhenotypes for gene: CASR were set to Neonatal severe primary hyperparathyroidism, MONDO:0009397\nReview for gene: CASR was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Genomics England PanelApp",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2026-01-29T12:50:08.629720+11:00",
"panel_name": "Hyperparathyroidism",
"panel_id": 4526,
"panel_version": "0.2",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-29T12:48:13.962596+11:00",
"panel_name": "Hyperparathyroidism",
"panel_id": 4526,
"panel_version": "0.1",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "HPO terms changed from to Hyperparathyroidism, HP:0000843",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-29T12:46:06.475564+11:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "1.13",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "List of related panels changed from Hypoparathyroidism; HP:0000829 to ",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-29T10:31:34.628140+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4210",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hereditary motor and sensory neuropathy MONDO:0015358, multiple symmetric lipomatosis with partial lipodystrophy MONDO:1060153; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2026-01-29T09:58:01.215097+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4210",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7726174; Phenotypes: Waardenburg syndrome MONDO:0018094; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2026-01-28T22:00:42.217797+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4210",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Publications for gene: PDHB were set to ",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2026-01-28T21:34:53.652162+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4209",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Publications for gene: MASP2 were set to ",
"entity_name": "MASP2",
"entity_type": "gene"
},
{
"created": "2026-01-28T17:39:05.377230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4208",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PAICS: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: PAICS deficiency MONDO:0859003; Mode of inheritance: None",
"entity_name": "PAICS",
"entity_type": "gene"
},
{
"created": "2026-01-28T15:41:06.668152+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4208",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: OXA1L: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: OXA1L-related combined oxidative phosphorylation deficiency MONDO:0000732; Mode of inheritance: None",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2026-01-28T14:49:41.059767+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4208",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: GDF5 were changed from Type A1C brachydactyly (MIM#615072); Type A2 brachydactyly, (MIM#112600); Type C brachydactyly (MIM#113100); Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298) to Brachydactyly MONDO:0021004, GDF5-related; Acromelic dysplasia MONDO:0019695, GDF5-related; Type A1C brachydactyly (MIM#615072); Type A2 brachydactyly, (MIM#112600); Type C brachydactyly (MIM#113100); Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298)",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2026-01-28T14:49:16.692124+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4207",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: GDF5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly MONDO:0021004, GDF5-related, Acromelic dysplasia MONDO:0019695, GDF5-related; Mode of inheritance: None",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2026-01-28T14:38:16.576475+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4207",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: GNAS were changed from Osseous heteroplasia, progressive (166350) AD; Pituitary adenoma 3, multiple types, somatic (617686); Pseudohypoparathyroidism Ia (103580) AD; Pseudohypoparathyroidism Ib (603233) AD; Pseudohypoparathyroidism Ic (612462) AD; Pseudopseudohypoparathyroidism (612463) to Disorder of GNAS inactivation MONDO:0800466; Osseous heteroplasia, progressive (166350) AD; Pituitary adenoma 3, multiple types, somatic (617686); Pseudohypoparathyroidism Ia (103580) AD; Pseudohypoparathyroidism Ib (603233) AD; Pseudohypoparathyroidism Ic (612462) AD; Pseudopseudohypoparathyroidism (612463)",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2026-01-28T14:37:56.278015+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4206",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: GNAS: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Disorder of GNAS inactivation MONDO:0800466; Mode of inheritance: None",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2026-01-28T14:35:07.834644+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4206",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000 to Epidermolysis bullosa MONDO:0006541, KRT14-related; Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2026-01-28T14:34:50.464170+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4205",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: KRT14: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa MONDO:0006541, KRT14-related; Mode of inheritance: None",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2026-01-28T14:34:09.591762+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4205",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MYT1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: MYT1-related oculoauriculovertebral spectrum MONDO:0007712; Mode of inheritance: None",
"entity_name": "MYT1",
"entity_type": "gene"
},
{
"created": "2026-01-28T14:33:31.865444+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4205",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KRT10 were changed from Epidermolytic hyperkeratosis, MIM#113800; Ichthyosis with confetti, MIM#609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM#607602 to Ichthyosis MONDO:0019269, KRT10-related; Epidermolytic hyperkeratosis, MIM#113800; Ichthyosis with confetti, MIM#609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM#607602",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2026-01-28T14:32:34.100193+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4204",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: KRT10: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis MONDO:0019269, KRT10-related; Mode of inheritance: None",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2026-01-28T14:31:55.619653+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4204",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KRT1 were changed from Epidermolytic hyperkeratosis, MIM#113800; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602; Ichthyosis histrix, Curth-Macklin type, MIM# 146590; Palmoplantar keratoderma, epidermolytic, MIM# 144200; Palmoplantar keratoderma, nonepidermolytic, MIM# 600962 to Ichthyosis MONDO:0019269, KRT1-related; Palmoplantar keratosis MONDO:0006590, KRT1-related; Epidermolytic hyperkeratosis, MIM#113800; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602; Ichthyosis histrix, Curth-Macklin type, MIM# 146590; Palmoplantar keratoderma, epidermolytic, MIM# 144200; Palmoplantar keratoderma, nonepidermolytic, MIM# 600962",
"entity_name": "KRT1",
"entity_type": "gene"
},
{
"created": "2026-01-28T14:31:24.979582+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4203",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: KRT1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis MONDO:0019269, KRT1-related, Palmoplantar keratosis MONDO:0006590, KRT1-related; Mode of inheritance: None",
"entity_name": "KRT1",
"entity_type": "gene"
},
{
"created": "2026-01-28T14:30:26.375158+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4203",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KRT5 were changed from Dowling-Degos disease 1, MIM# 179850; Epidermolysis bullosa simplex-MCR, MIM# 609352; Epidermolysis bullosa simplex-MP 131960; Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760; Epidermolysis bullosa simplex, Koebner type, MIM# 131900; Epidermolysis bullosa simplex, recessive 1, MIM# 601001; Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800 to Epidermolysis bullosa MONDO:0006541, KRT5-related; Dowling-Degos disease 1, MIM# 179850; Epidermolysis bullosa simplex-MCR, MIM# 609352; Epidermolysis bullosa simplex-MP 131960; Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760; Epidermolysis bullosa simplex, Koebner type, MIM# 131900; Epidermolysis bullosa simplex, recessive 1, MIM# 601001; Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2026-01-28T14:30:06.892140+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4202",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: KRT5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa MONDO:0006541, KRT5-related; Mode of inheritance: None",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2026-01-28T14:08:54.061675+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4202",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MYADML2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: MYADML2-related connective tissue disroder MONDO:0003900; Mode of inheritance: None",
"entity_name": "MYADML2",
"entity_type": "gene"
},
{
"created": "2026-01-28T12:50:55.641585+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMPRSS7 as ready",
"entity_name": "TMPRSS7",
"entity_type": "gene"
},
{
"created": "2026-01-28T12:50:55.631766+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmprss7 has been classified as Red List (Low Evidence).",
"entity_name": "TMPRSS7",
"entity_type": "gene"
},
{
"created": "2026-01-28T12:50:45.424256+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMPRSS7 as ready",
"entity_name": "TMPRSS7",
"entity_type": "gene"
},
{
"created": "2026-01-28T12:50:45.412982+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmprss7 has been classified as Red List (Low Evidence).",
"entity_name": "TMPRSS7",
"entity_type": "gene"
},
{
"created": "2026-01-28T12:50:30.628727+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMPRSS7 as ready",
"entity_name": "TMPRSS7",
"entity_type": "gene"
},
{
"created": "2026-01-28T12:50:30.618875+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmprss7 has been classified as Red List (Low Evidence).",
"entity_name": "TMPRSS7",
"entity_type": "gene"
},
{
"created": "2026-01-28T12:50:20.460164+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMPRSS7 as ready",
"entity_name": "TMPRSS7",
"entity_type": "gene"
},
{
"created": "2026-01-28T12:50:20.452086+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmprss7 has been classified as Red List (Low Evidence).",
"entity_name": "TMPRSS7",
"entity_type": "gene"
},
{
"created": "2026-01-28T12:50:07.852476+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene TMPRSS7 from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-28T12:50:07.706862+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMPRSS7 was added\ngene: TMPRSS7 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature\nMode of inheritance for gene: TMPRSS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMPRSS7 were set to 40796295\nPhenotypes for gene: TMPRSS7 were set to Neurodevelopmental disorder, TMPRSS7-related",
"entity_name": "TMPRSS7",
"entity_type": "gene"
},
{
"created": "2026-01-28T12:49:29.783678+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.522",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene TMPRSS7 from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-28T12:49:29.557154+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMPRSS7 was added\ngene: TMPRSS7 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: TMPRSS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMPRSS7 were set to 40796295\nPhenotypes for gene: TMPRSS7 were set to Neurodevelopmental disorder, TMPRSS7-related",
"entity_name": "TMPRSS7",
"entity_type": "gene"
},
{
"created": "2026-01-28T12:49:26.240636+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.588",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene TMPRSS7 from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-28T12:49:26.058636+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMPRSS7 was added\ngene: TMPRSS7 was added to Callosome. Sources: Literature\nMode of inheritance for gene: TMPRSS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMPRSS7 were set to 40796295\nPhenotypes for gene: TMPRSS7 were set to Neurodevelopmental disorder, TMPRSS7-related",
"entity_name": "TMPRSS7",
"entity_type": "gene"
},
{
"created": "2026-01-28T12:48:28.112735+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 40796295: individual with compound het variants, p.R479H and p.S685Kfs*26 and neurodevelopmental disorder. Tmprss7 homozygous knockout (KO) mice exhibited dysregulated synaptic dendritic spine density, function, and dendritic elongation in the cerebral cortex and hippocampus. In addition, the KO animals displayed neurobehavioral deficits, including impairments in spatial learning, anxiety-like behavior, and a reduced preference for social novelty. Multi-omics analysis discovered enrichment of pathways related to synaptic signaling disruptions in both the cerebral cortex and hippocampus. \nSources: Literature; to: PMID 40796295: individual with compound het variants, p.R479H and p.S685Kfs*26 and neurodevelopmental disorder, presenting with fetal agenesis of the corpus callosum and ventriculomegaly. Tmprss7 homozygous knockout (KO) mice exhibited dysregulated synaptic dendritic spine density, function, and dendritic elongation in the cerebral cortex and hippocampus. In addition, the KO animals displayed neurobehavioral deficits, including impairments in spatial learning, anxiety-like behavior, and a reduced preference for social novelty. Multi-omics analysis discovered enrichment of pathways related to synaptic signaling disruptions in both the cerebral cortex and hippocampus. \r\nSources: Literature",
"entity_name": "TMPRSS7",
"entity_type": "gene"
},
{
"created": "2026-01-28T12:45:21.365155+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SKAP2 as ready",
"entity_name": "SKAP2",
"entity_type": "gene"
},
{
"created": "2026-01-28T12:45:21.354680+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: skap2 has been classified as Red List (Low Evidence).",
"entity_name": "SKAP2",
"entity_type": "gene"
},
{
"created": "2026-01-28T12:45:13.174758+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.45",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SKAP2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-28T12:45:12.689330+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SKAP2 was added\ngene: SKAP2 was added to Autoinflammatory Disorders. Sources: Expert Review Red,Literature\nMode of inheritance for gene: SKAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SKAP2 were set to 40771593; 34172489\nPhenotypes for gene: SKAP2 were set to Inborn error of immunity, MONDO:0003778",
"entity_name": "SKAP2",
"entity_type": "gene"
},
{
"created": "2026-01-28T12:44:19.488922+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SKAP2 as ready",
"entity_name": "SKAP2",
"entity_type": "gene"
},
{
"created": "2026-01-28T12:44:19.478422+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: skap2 has been classified as Red List (Low Evidence).",
"entity_name": "SKAP2",
"entity_type": "gene"
},
{
"created": "2026-01-28T12:44:10.360658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SKAP2 was added\ngene: SKAP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SKAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SKAP2 were set to 40771593; 34172489\nPhenotypes for gene: SKAP2 were set to Inborn error of immunity, MONDO:0003778\nReview for gene: SKAP2 was set to RED\nAdded comment: PMID 34172489 reports a de novo heterozygous SKAP2 missense variant (c.457G>A, p.Gly153Arg) in a child with childhood‑onset type 1 diabetes and multiple autoimmune disorders; functional studies in THP‑1 macrophages, patient‑derived macrophages and neutrophils show constitutive SKAP2 activation and hyper‑integrin signaling. The same variant was later described in PMID 40771593. \nSources: Literature",
"entity_name": "SKAP2",
"entity_type": "gene"
},
{
"created": "2026-01-27T16:23:02.245134+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.405",
"user_name": "Rylee Peters",
"item_type": "panel",
"text": "Copied gene NRDC from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-27T16:23:02.026333+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.405",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: NRDC was added\ngene: NRDC was added to Microcephaly. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: NRDC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NRDC were set to 41449824; 28017472; 34582790; 19935654\nPhenotypes for gene: NRDC were set to Neurodevelopmental disorder, MONDO:0700092, NRDC-related",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-01-27T16:22:22.933231+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.638",
"user_name": "Rylee Peters",
"item_type": "panel",
"text": "Copied gene NRDC from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-27T16:22:22.376204+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.638",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: NRDC was added\ngene: NRDC was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: NRDC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NRDC were set to 41449824; 28017472; 34582790; 19935654\nPhenotypes for gene: NRDC were set to Neurodevelopmental disorder, MONDO:0700092, NRDC-related",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-01-27T16:20:40.240904+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4201",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Classified gene: NRDC as Amber List (moderate evidence)",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-01-27T16:20:40.231312+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4201",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Gene: nrdc has been classified as Amber List (Moderate Evidence).",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-01-27T16:20:21.221127+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4200",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: NRDC was added\ngene: NRDC was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NRDC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NRDC were set to 41449824; 28017472; 34582790; 19935654\nPhenotypes for gene: NRDC were set to Neurodevelopmental disorder, MONDO:0700092, NRDC-related\nReview for gene: NRDC was set to AMBER\nAdded comment: Two unrelated families reported with the same homozygous NMD-predicted frameshift variant. PMID: 41449824 describes two affected siblings with severe neurodevelopmental disorder (developmental delay, microcephaly, hypotonia, seizures, absent speech). PMID: 28017472 reports one individual with severe global developmental delay, ataxia, progressive neurodegeneration, and acquired microcephaly.\r\n\r\nPMID: 34582790 describes an additional homozygous splice variant (NRDC c.3081-2A>G) in an infant with developmental delay, ventricular dilatation and large nevi; however, the individual was also homozygous for a pathogenic NANS missense variant (c.635T>C; p.I212T), which has an established gene–disease association.\r\n\r\nPMID: 19935654 | Nrd1−/− mice show reduced brain size, thin cerebral cortex, central and peripheral hypomyelination, with motor impairment and cognitive deficits. \nSources: Literature",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-01-27T15:24:16.555086+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VCP as ready",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2026-01-27T15:24:16.545116+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vcp has been classified as Green List (High Evidence).",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2026-01-27T15:24:13.594164+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VCP were changed from to Frontotemporal dementia and/or Amyotrophic lateral sclerosis 6 (MONDO:0013501; MIM 613954); Inclusion body myopathy with early-onset Paget Disease and FTD [IBMPFD] (MONDO:0000507MIM 167320)",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2026-01-27T15:20:21.420476+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VCP were set to 21145000; 33004675",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2026-01-27T15:19:57.585292+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VCP were set to ",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2026-01-27T15:19:00.333163+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VCP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2026-01-27T14:10:12.382484+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRNP as ready",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2026-01-27T14:10:12.375480+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prnp has been classified as Green List (High Evidence).",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2026-01-27T14:10:10.094489+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRNP were changed from to Prion Disease (MIM#176640); Creutzfeldt-Jakob disease (MIM#123400)",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2026-01-27T14:09:47.257427+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRNP were set to ",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2026-01-27T14:09:20.880483+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRNP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2026-01-27T13:56:12.091435+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NNT were set to 22634753; 23474776; 25879317; 26070314; 27129361",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2026-01-27T13:55:50.608235+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NNT: Rating: RED; Mode of pathogenicity: None; Publications: 40709434; Phenotypes: Familial sebaceous hyperplasia, MONDO:0011130, NNT-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2026-01-27T09:54:35.994809+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAA15 were set to 38380600",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2026-01-27T09:54:18.846071+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NAA15: Added comment: Multiple reports of dystonia as part of the clinical presentation.; Changed publications: 38380600, 36221186, 35730864",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2026-01-27T09:53:27.511375+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA15 were changed from dystonia; neurodevelopmental delay to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2026-01-27T09:53:08.353179+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NAA15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:56:24.617529+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARCN1 were set to 27476655; 33154040",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:56:10.381849+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARCN1: Changed publications: 27476655, 33154040, 35300924",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:56:01.037955+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 4 unrelated families reported.; to: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:55:17.388003+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: ARCN1: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:54:51.584802+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARCN1 were set to 27476655; 33154040",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:54:21.841867+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARCN1: Changed publications: 27476655, 33154040, 35300924",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:54:11.880962+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 4 unrelated families reported.; to: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:53:33.933081+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARCN1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARCN1",
"entity_type": "gene"
}
]
}