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{
"count": 220403,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=54",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=52",
"results": [
{
"created": "2026-01-22T20:54:38.034647+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gspt2 has been classified as Green List (High Evidence).",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T20:54:24.102255+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GSPT2: Added comment: PMID 41420488: Six unrelated males reported with hemizygosity for variants in GSTP2 and neurodevelopmental disorder including intellectual disability, language impairment, autism, motor impairment, epilepsy, or abnormal fetal brain development. Variants were reported to be inherited from unaffected mothers. Functional evidence did support deleterious effects of the variants and gene knock-out.; Changed rating: GREEN; Changed publications: 28414775, 41420488; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, GSPT2-related",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T20:53:30.677549+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GSPT2 were changed from Intellectual disability MONDO:0001071, GSPT2-related to Neurodevelopmental disorder, MONDO:0700092, GSPT2-related",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T20:52:57.470840+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GSPT2 as Green List (high evidence)",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T20:52:57.460949+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gspt2 has been classified as Green List (High Evidence).",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T20:52:34.474685+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GSPT2 were set to 28414775",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T20:52:02.180881+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GSPT2: Added comment: PMID 41420488: Six unrelated males reported with hemizygosity for variants in GSTP2 and neurodevelopmental disorder including intellectual disability, language impairment, autism, motor impairment, epilepsy, or abnormal fetal brain development. Variants were reported to be inherited from unaffected mothers. Functional evidence did support deleterious effects of the variants and gene knock-out.; Changed rating: GREEN; Changed publications: 28414775, 41420488; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, GSPT2-related",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T20:45:23.944830+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GSPT2 were changed from Intellectual disability MONDO:0001071, GSPT2-related to Neurodevelopmental disorder, MONDO:0700092, GSPT2-related",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T20:43:54.982727+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GSPT2 were set to 28414775",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T20:43:35.994503+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GSPT2 as Green List (high evidence)",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T20:43:35.986710+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gspt2 has been classified as Green List (High Evidence).",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T19:12:54.798682+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC149 as ready",
"entity_name": "CCDC149",
"entity_type": "gene"
},
{
"created": "2026-01-22T19:12:54.789452+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc149 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC149",
"entity_type": "gene"
},
{
"created": "2026-01-22T19:12:38.002246+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene CCDC149 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T19:12:37.770026+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC149 was added\ngene: CCDC149 was added to Differences of Sex Development. Sources: Expert Review Red,Literature\nMode of inheritance for gene: CCDC149 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC149 were set to 40459248\nPhenotypes for gene: CCDC149 were set to Cryptorchidism, MONDO:0009047, CCDC149-related",
"entity_name": "CCDC149",
"entity_type": "gene"
},
{
"created": "2026-01-22T19:11:48.803222+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC149 as ready",
"entity_name": "CCDC149",
"entity_type": "gene"
},
{
"created": "2026-01-22T19:11:48.792810+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc149 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC149",
"entity_type": "gene"
},
{
"created": "2026-01-22T19:11:35.975228+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC149 was added\ngene: CCDC149 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CCDC149 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC149 were set to 40459248\nPhenotypes for gene: CCDC149 were set to Cryptorchidism, MONDO:0009047, CCDC149-related\nReview for gene: CCDC149 was set to RED\nAdded comment: PMID 40459248 reports a single 8‑year‑old boy from a consanguineous family with bilateral cryptorchidism due to a homozygous nonsense CCDC149 variant (c.448C>T, p.Gln150Ter), biparental inheritance. Ccdc149 knockout mice recapitulate undescended testes and sperm abnormalities, supporting loss‑of‑function as the disease mechanism. \nSources: Literature",
"entity_name": "CCDC149",
"entity_type": "gene"
},
{
"created": "2026-01-22T18:58:28.818479+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TFCP2L1 were changed from CAKUT, MONDO:0019719, TFGP2L1-related to Inherited renal tubular disease, MONDO:0015962, TFGP2L1-related",
"entity_name": "TFCP2L1",
"entity_type": "gene"
},
{
"created": "2026-01-22T18:58:11.353921+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TFCP2L1: Changed phenotypes: Inherited renal tubular disease, MONDO:0015962, TFGP2L1-related",
"entity_name": "TFCP2L1",
"entity_type": "gene"
},
{
"created": "2026-01-22T18:57:54.586813+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TFCP2L1 were changed from CAKUT, MONDO:0019719, TFGP2L1-related to Inherited renal tubular disease, MONDO:0015962, TFGP2L1-related",
"entity_name": "TFCP2L1",
"entity_type": "gene"
},
{
"created": "2026-01-22T18:57:40.062845+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TFCP2L1: Changed phenotypes: Inherited renal tubular disease, MONDO:0015962, TFGP2L1-related",
"entity_name": "TFCP2L1",
"entity_type": "gene"
},
{
"created": "2026-01-22T18:28:15.526106+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: GDF2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2026-01-22T17:19:05.762815+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIPC was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2026-01-22T17:18:26.026438+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIM2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2026-01-22T17:15:08.150782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIM2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2026-01-22T16:52:39.802201+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4124",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: Comment on mode of pathogenicity: AD - GOF\r\nAR - LOF; to: Episodic pain syndrome, familial, 2 MIM#615551 - AD - GOF (green)\r\nNeurodevelopmental disorder (MONDO#0700092), SCN10A-related - AR - LOF (amber)",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2026-01-22T16:51:45.234229+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4124",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2026-01-22T16:50:36.649229+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4124",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: SCN10A were changed from s)\tEpisodic pain syndrome, familial, 2 MIM#615551; Neurodevelopmental disorder (MONDO#0700092), SCN10A-related to Episodic pain syndrome, familial, 2 MIM#615551; Neurodevelopmental disorder (MONDO#0700092), SCN10A-related",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2026-01-22T16:50:20.532007+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4123",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: SCN10A were changed from Episodic pain syndrome, familial, 2, MIM# 615551 to s)\tEpisodic pain syndrome, familial, 2 MIM#615551; Neurodevelopmental disorder (MONDO#0700092), SCN10A-related",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2026-01-22T16:49:56.813905+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4122",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: SCN10A were set to 23115331; 33775738; 30731422; 30554136",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2026-01-22T16:49:33.180944+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4121",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN10A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2026-01-22T16:49:12.550758+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4120",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Added comment: Comment on mode of pathogenicity: AD - GOF\r\nAR - LOF",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2026-01-22T16:49:12.538192+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4120",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SCN10A was changed from to Other",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2026-01-22T16:47:39.364510+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4119",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene SCN10A from panel Genetic Epilepsy",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T16:47:19.440981+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.357",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: SCN10A were changed from Neurodevelopmental disorder (MONDO#0700092), SCN10A-related to Neurodevelopmental disorder (MONDO#0700092), SCN10A-related",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2026-01-22T16:47:00.355420+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.357",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: SCN10A were changed from Neurodevelopmental disorder (MONDO#0700092), SCN10A-related to Neurodevelopmental disorder (MONDO#0700092), SCN10A-related",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2026-01-22T16:46:35.971318+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.357",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SCN10A as Amber List (moderate evidence)",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2026-01-22T16:46:35.949883+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.357",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: scn10a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2026-01-22T16:46:08.818432+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.356",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: SCN10A were changed from Episodic pain syndrome, familial, 2\tMIM#615551; Neurodevelopmental disorder (MONDO#0700092), SCN10A-related to Neurodevelopmental disorder (MONDO#0700092), SCN10A-related",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2026-01-22T16:45:49.553535+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.356",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SCN10A as Amber List (moderate evidence)",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2026-01-22T16:45:49.541788+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.356",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: scn10a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2026-01-22T16:45:30.131519+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.356",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SCN10A as Amber List (moderate evidence)",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2026-01-22T16:45:30.112674+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.356",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: scn10a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2026-01-22T16:44:56.303724+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.355",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SCN10A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:56:23.897306+11:00",
"panel_name": "Movement Disorders Superpanel",
"panel_id": 3531,
"panel_version": "3.180",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Tremors_Superpanel to Movement Disorders Superpanel\nChanged child panels to: Early-onset Parkinson disease; Brain Channelopathies; Dystonia and Chorea; Paroxysmal Dyskinesia",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T15:51:11.443560+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4118",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GPR88 from panel Dystonia and Chorea",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T15:51:10.841477+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4118",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GPR88 was added\ngene: GPR88 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GPR88 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPR88 were set to 27123486\nPhenotypes for gene: GPR88 were set to chorea, childhood-onset, with psychomotor retardation MONDO:0014839",
"entity_name": "GPR88",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:51:07.949278+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.335",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GPR88 as ready",
"entity_name": "GPR88",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:51:07.928302+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.335",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gpr88 has been classified as Red List (Low Evidence).",
"entity_name": "GPR88",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:50:44.630438+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.335",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GPR88 was added\ngene: GPR88 was added to Dystonia and Chorea. Sources: Literature\nMode of inheritance for gene: GPR88 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPR88 were set to 27123486\nPhenotypes for gene: GPR88 were set to chorea, childhood-onset, with psychomotor retardation MONDO:0014839\nReview for gene: GPR88 was set to RED\nAdded comment: Single consanguineous Palestinian family reported with a homozygous stopgain variant (c.873C>A, p.Cys291*) \nSources: Literature",
"entity_name": "GPR88",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:41:37.557178+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.334",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PRNP as ready",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:41:37.549189+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.334",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prnp has been classified as Green List (High Evidence).",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:41:32.010368+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.334",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PRNP as Green List (high evidence)",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:41:32.000504+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.334",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prnp has been classified as Green List (High Evidence).",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:41:20.787732+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.333",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRNP was added\ngene: PRNP was added to Dystonia and Chorea. Sources: Literature\nMode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRNP were set to 30713928; 27400454\nPhenotypes for gene: PRNP were set to Huntington disease-like 1 MONDO:0011299\nReview for gene: PRNP was set to GREEN\nAdded comment: Chorea can be feature of inherited prionopathies. \nSources: Literature",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:28:31.897618+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: S100A3 as ready",
"entity_name": "S100A3",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:28:31.887985+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: s100a3 has been classified as Red List (Low Evidence).",
"entity_name": "S100A3",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:28:25.805881+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.332",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR PRNP_CJD_octapeptide from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T15:28:25.624482+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.332",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: PRNP_CJD_octapeptide was added\nSTR: PRNP_CJD_octapeptide was added to Dystonia and Chorea. Sources: Expert Review Green,Expert list\nadult-onset tags were added to STR: PRNP_CJD_octapeptide.\nMode of inheritance for STR: PRNP_CJD_octapeptide was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: PRNP_CJD_octapeptide were set to 2159587; 20301407\nPhenotypes for STR: PRNP_CJD_octapeptide were set to Creutzfeldt-Jakob disease MIM#123400; Gerstmann-Straussler disease MIM#137440",
"entity_name": "PRNP_CJD_octapeptide",
"entity_type": "str"
},
{
"created": "2026-01-22T15:28:16.944315+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene S100A3 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T15:28:16.533680+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: S100A3 was added\ngene: S100A3 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Literature\ndigenic tags were added to gene: S100A3.\nMode of inheritance for gene: S100A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: S100A3 were set to 40497957; 38099297; 31073086\nPhenotypes for gene: S100A3 were set to Pulmonary fibrosis, MONDO:0002771, S100A3-related",
"entity_name": "S100A3",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:27:55.230894+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: S100A13 as ready",
"entity_name": "S100A13",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:27:55.219387+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: s100a13 has been classified as Red List (Low Evidence).",
"entity_name": "S100A13",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:27:25.366595+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: S100A3 as ready",
"entity_name": "S100A3",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:27:25.358981+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: s100a3 has been classified as Red List (Low Evidence).",
"entity_name": "S100A3",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:27:18.166460+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.331",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR TBP_SCA17_CAG from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T15:27:18.001891+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.331",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: TBP_SCA17_CAG was added\nSTR: TBP_SCA17_CAG was added to Dystonia and Chorea. Sources: Expert Review Green,Expert list\nadult-onset, paediatric-onset tags were added to STR: TBP_SCA17_CAG.\nMode of inheritance for STR: TBP_SCA17_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: TBP_SCA17_CAG were set to 10484774; 20301611; 29325606\nPhenotypes for STR: TBP_SCA17_CAG were set to Spinocerebellar ataxia 17 MIM#607136",
"entity_name": "TBP_SCA17_CAG",
"entity_type": "str"
},
{
"created": "2026-01-22T15:27:14.476937+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: S100A3 was added\ngene: S100A3 was added to Mendeliome. Sources: Literature\ndigenic tags were added to gene: S100A3.\nMode of inheritance for gene: S100A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: S100A3 were set to 40497957; 38099297; 31073086\nPhenotypes for gene: S100A3 were set to Pulmonary fibrosis, MONDO:0002771, S100A3-related\nReview for gene: S100A3 was set to RED\nAdded comment: PMID 31073086 reports 13 individuals from 2 unrelated families, with early‑onset (age 12-15) atypical familial pulmonary fibrosis caused by hypomorphic S100A3 missense variant in a digenic context with high impact S100A13 homozygous variant. Functional studies in patient‑derived fibroblasts, iPSC‑derived alveolar cells and rescue experiments demonstrate reduced S100A3 expression, impaired calcium signalling, mitochondrial dysfunction and cytokine dysregulation, supporting pathogenicity.\r\n\r\nHowever, note variant c.229C>T (p.R77C) is present in homozygous state in 12 individuals in gnomAD v4, hence S100A3 variant may be solely responsible. \nSources: Literature",
"entity_name": "S100A3",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:24:00.531480+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene S100A13 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T15:24:00.366036+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: S100A13 was added\ngene: S100A13 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Literature\ndigenic tags were added to gene: S100A13.\nMode of inheritance for gene: S100A13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: S100A13 were set to 40497957; 38099297; 31073086\nPhenotypes for gene: S100A13 were set to Pulmonary fibrosis, MONDO:0002771, S100A13-related",
"entity_name": "S100A13",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:23:42.565797+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4116",
"user_name": "Morten Herlin",
"item_type": "entity",
"text": "reviewed gene: GSPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 41420488; Phenotypes: MONDO:0700092; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:23:04.306117+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 31073086 reports 13 individuals from 2 families with early‑onset atypical familial pulmonary fibrosis caused by homozygous loss‑of‑function truncating S100A13 variants in digenic combination with S100A3 homozygous missense variant; functional studies in patient fibroblasts and iPSC‑derived alveolar cells show reduced S100A13 expression, altered calcium signalling and mitochondrial dysfunction that are rescued by wild‑type S100A13. \nSources: Literature; to: PMID 31073086 reports 13 individuals from 2 families with early‑onset (age 12-15) atypical familial pulmonary fibrosis caused by homozygous loss‑of‑function truncating S100A13 variants in digenic combination with S100A3 homozygous missense variant; functional studies in patient fibroblasts and iPSC‑derived alveolar cells show reduced S100A13 expression, altered calcium signalling and mitochondrial dysfunction that are rescued by wild‑type S100A13. \r\nSources: Literature",
"entity_name": "S100A13",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:22:43.298239+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: S100A13 as ready",
"entity_name": "S100A13",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:22:43.288209+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: s100a13 has been classified as Red List (Low Evidence).",
"entity_name": "S100A13",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:22:27.029036+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: S100A13 was added\ngene: S100A13 was added to Mendeliome. Sources: Literature\ndigenic tags were added to gene: S100A13.\nMode of inheritance for gene: S100A13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: S100A13 were set to 40497957; 38099297; 31073086\nPhenotypes for gene: S100A13 were set to Pulmonary fibrosis, MONDO:0002771, S100A13-related\nReview for gene: S100A13 was set to RED\nAdded comment: PMID 31073086 reports 13 individuals from 2 families with early‑onset atypical familial pulmonary fibrosis caused by homozygous loss‑of‑function truncating S100A13 variants in digenic combination with S100A3 homozygous missense variant; functional studies in patient fibroblasts and iPSC‑derived alveolar cells show reduced S100A13 expression, altered calcium signalling and mitochondrial dysfunction that are rescued by wild‑type S100A13. \nSources: Literature",
"entity_name": "S100A13",
"entity_type": "gene"
},
{
"created": "2026-01-22T15:19:54.067515+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.330",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR ATN1_DRPLA_CAG from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T15:19:53.906174+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.330",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: ATN1_DRPLA_CAG was added\nSTR: ATN1_DRPLA_CAG was added to Dystonia and Chorea. Sources: Expert Review Green,Expert list\nadult-onset, paediatric-onset tags were added to STR: ATN1_DRPLA_CAG.\nMode of inheritance for STR: ATN1_DRPLA_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ATN1_DRPLA_CAG were set to 8136840; 8136826; 29325606; 20301664\nPhenotypes for STR: ATN1_DRPLA_CAG were set to Dentatorubral-pallidoluysian atrophy MIM#125370",
"entity_name": "ATN1_DRPLA_CAG",
"entity_type": "str"
},
{
"created": "2026-01-22T14:58:32.765212+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BOC as ready",
"entity_name": "BOC",
"entity_type": "gene"
},
{
"created": "2026-01-22T14:58:32.755224+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: boc has been classified as Red List (Low Evidence).",
"entity_name": "BOC",
"entity_type": "gene"
},
{
"created": "2026-01-22T14:58:26.824269+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BOC were changed from to Orofacial clefting, MONDO:0000358, BOC-related",
"entity_name": "BOC",
"entity_type": "gene"
},
{
"created": "2026-01-22T14:58:14.493086+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BOC: Changed phenotypes: Orofacial clefting, MONDO:0000358, BOC-related",
"entity_name": "BOC",
"entity_type": "gene"
},
{
"created": "2026-01-22T14:57:58.706246+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BOC as ready",
"entity_name": "BOC",
"entity_type": "gene"
},
{
"created": "2026-01-22T14:57:58.696548+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: boc has been classified as Red List (Low Evidence).",
"entity_name": "BOC",
"entity_type": "gene"
},
{
"created": "2026-01-22T14:57:52.541249+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BOC were changed from to Orofacial clefting, MONDO:0000358, BOC-related",
"entity_name": "BOC",
"entity_type": "gene"
},
{
"created": "2026-01-22T14:57:15.383592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BOC: Changed phenotypes: Orofacial clefting, MONDO:0000358, BOC-related",
"entity_name": "BOC",
"entity_type": "gene"
},
{
"created": "2026-01-22T14:32:35.101668+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.399",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Copied gene OSR2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T14:32:34.893148+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.399",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: OSR2 was added\ngene: OSR2 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: OSR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OSR2 were set to 41424369; 21262216\nPhenotypes for gene: OSR2 were set to MONDO:0005497",
"entity_name": "OSR2",
"entity_type": "gene"
},
{
"created": "2026-01-22T14:30:41.075387+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4114",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: OSR2 was added\ngene: OSR2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: OSR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OSR2 were set to 41424369; 21262216\nPhenotypes for gene: OSR2 were set to MONDO:0005497\nReview for gene: OSR2 was set to GREEN\nAdded comment: 41424369 reports six unrelated families (13 affected individuals) presenting with radioulnar synostosis, distal ulna hypoplasia, joint stiffness, ear deformities, scoliosis and short stature. \r\n\r\nVariant: two nonsense, two missense at the same codon, and a 383‑kb deletion were reported. The variants segregate in an autosomal‑dominant pattern with incomplete penetrance and was identified de novo in one family\r\n\r\nFunctional assays (Western blot, immunofluorescence) demonstrate loss‑of‑function. \r\n\r\n21262216 - Reports Osr2 knockout mice that recapitulate the human phenotype of joint fusion, supporting the loss-of-function mechanism of the disease. \nSources: Literature",
"entity_name": "OSR2",
"entity_type": "gene"
},
{
"created": "2026-01-22T13:03:39.590635+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene BOC from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T13:03:39.515409+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BOC was added\ngene: BOC was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: BOC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BOC were set to 40464334; 28677295",
"entity_name": "BOC",
"entity_type": "gene"
},
{
"created": "2026-01-22T13:00:44.190918+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BOC was added\ngene: BOC was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BOC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BOC were set to 40464334; 28677295\nReview for gene: BOC was set to RED\nAdded comment: BOC encodes a cell‑surface co‑receptor for Sonic Hedgehog signaling. PMID 40464334 reports 4 unrelated families with heterozygous BOC variants causing non‑syndromic orofacial clefts (cleft palate and microform cleft lip); three variants are de novo and one segregates dominantly, and zebrafish and cell‑based assays confirm hypomorphic activity. PMID 28677295 and PMID 28915250 describe BOC missense variants in holoprosencephaly and Gorlin syndrome, respectively, but present them as modifier alleles without segregation or functional validation.\r\n\r\nHowever, all reported variants have relatively high gnomAD frequencies, raising the possibility that these are susceptibility alleles. \nSources: Literature",
"entity_name": "BOC",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:56:53.038508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AXDND1 as Green List (high evidence)",
"entity_name": "AXDND1",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:56:53.027950+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: axdnd1 has been classified as Green List (High Evidence).",
"entity_name": "AXDND1",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:56:35.423355+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AXDND1: Added comment: PMID 38997255: Reports 3 individuals from 3 unrelated families with autosomal recessive loss‑of‑function or missense variants in AXDND1 presenting with non‑obstructive azoospermia/severe oligozoospermia. One family carries a homozygous stop‑gain (p.R313X) and two families carry heterozygous missense variants (p.Leu536Gln; p.Lys817Asn) with phenotypes ranging from Sertoli‑cell‑only syndrome to hypospermatogenesis. A mouse Axdnd1 knockout recapitulates male infertility, defective spermatogenesis and abnormal sperm tail ultrastructure, providing strong functional validation of gene loss‑of‑function as the disease mechanism.; Changed rating: GREEN; Changed publications: 40457935, 38997255",
"entity_name": "AXDND1",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:53:37.437415+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AXDND1 as Green List (high evidence)",
"entity_name": "AXDND1",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:53:37.427650+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: axdnd1 has been classified as Green List (High Evidence).",
"entity_name": "AXDND1",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:53:23.500336+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AXDND1: Added comment: PMID 38997255: Reports 3 individuals from 3 unrelated families with autosomal recessive loss‑of‑function or missense variants in AXDND1 presenting with non‑obstructive azoospermia/severe oligozoospermia. One family carries a homozygous stop‑gain (p.R313X) and two families carry heterozygous missense variants (p.Leu536Gln; p.Lys817Asn) with phenotypes ranging from Sertoli‑cell‑only syndrome to hypospermatogenesis. A mouse Axdnd1 knockout recapitulates male infertility, defective spermatogenesis and abnormal sperm tail ultrastructure, providing strong functional validation of gene loss‑of‑function as the disease mechanism.; Changed rating: GREEN; Changed publications: 40457935, 38997255",
"entity_name": "AXDND1",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:50:51.846380+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.240",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Copied gene UNC13C from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T12:50:51.687464+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.240",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: UNC13C was added\ngene: UNC13C was added to Autism. Sources: Literature\nMode of inheritance for gene: UNC13C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UNC13C were set to 41399760\nPhenotypes for gene: UNC13C were set to Neurodevelopmental disorder, MONDO:0700092",
"entity_name": "UNC13C",
"entity_type": "gene"
}
]
}