HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=15",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=13",
"results": [
{
"created": "2026-03-24T16:28:32.837728+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfi has been classified as Green List (High Evidence).",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:28:28.972412+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFI were changed from to {Haemolytic uremic syndrome, atypical, susceptibility to, 3} MIM#612923",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:28:00.663721+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFI were set to ",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:27:37.671086+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFI was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:27:08.517922+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFHR5 as ready",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:27:08.510555+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfhr5 has been classified as Green List (High Evidence).",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:27:05.477490+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFHR5 were changed from to Nephropathy due to CFHR5 deficiency, MIM#614809",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:26:39.037511+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFHR5 were set to ",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:26:12.202390+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFHR5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:25:40.999788+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFH as ready",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:25:40.991626+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfh has been classified as Green List (High Evidence).",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:25:38.183221+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFH were changed from to {Haemolytic uremic syndrome, atypical, susceptibility to, 1} MIMI#235400",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:25:17.217842+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFH were set to ",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:24:48.295896+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFH was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:23:29.760360+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-24T16:23:10.376615+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTNNA3 as ready",
"entity_name": "CTNNA3",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:23:10.366457+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctnna3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTNNA3",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:22:19.031627+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-24T16:17:17.133082+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "1.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-24T16:14:24.122539+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP47 as ready",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:14:24.112950+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap47 has been classified as Red List (Low Evidence).",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:14:19.788448+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP47 as Red List (low evidence)",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:14:19.781119+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap47 has been classified as Red List (Low Evidence).",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:13:22.894864+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSC2 as ready",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:13:22.887650+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsc2 has been classified as Green List (High Evidence).",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:13:20.020617+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis-2, MIM# 613254",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:12:55.633052+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:12:20.343709+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37432-Loss as ready",
"entity_name": "ISCA-37432-Loss",
"entity_type": "region"
},
{
"created": "2026-03-24T16:12:20.320341+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37432-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37432-Loss",
"entity_type": "region"
},
{
"created": "2026-03-24T16:11:52.109343+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYS1 as ready",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:11:52.097237+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cys1 has been classified as Green List (High Evidence).",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:11:27.506308+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSC1 as ready",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:11:27.496542+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsc1 has been classified as Green List (High Evidence).",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:11:25.374848+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis-1, MIM#191100",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:10:50.847838+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSC1 were set to ",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2026-03-24T16:10:30.206183+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2026-03-24T14:43:00.178647+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXI3 were changed from Dysostosis with predominant craniofacial involvement (MONDO:0800085) to Craniofacial microsomia 2, MIM# 620444",
"entity_name": "FOXI3",
"entity_type": "gene"
},
{
"created": "2026-03-24T14:42:35.685099+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXI3 were set to 36260083",
"entity_name": "FOXI3",
"entity_type": "gene"
},
{
"created": "2026-03-24T14:42:02.783329+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 37041148; Phenotypes: Craniofacial microsomia 2, MIM# 620444; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXI3",
"entity_type": "gene"
},
{
"created": "2026-03-24T14:40:52.846921+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXI3 were changed from Dysostosis with predominant craniofacial involvement (MONDO:0800085) to Craniofacial microsomia 2, MIM# 620444",
"entity_name": "FOXI3",
"entity_type": "gene"
},
{
"created": "2026-03-24T14:40:33.291727+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXI3 were set to 36260083",
"entity_name": "FOXI3",
"entity_type": "gene"
},
{
"created": "2026-03-24T14:40:11.605328+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 37041148; Phenotypes: Craniofacial microsomia 2, MIM# 620444; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXI3",
"entity_type": "gene"
},
{
"created": "2026-03-23T15:44:14.071453+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.44",
"user_name": "Elena Tucker",
"item_type": "entity",
"text": "reviewed gene: MARS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2026-03-23T11:21:07.319571+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.225",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ALMS1 were changed from OMIM 203800 to Cardiomyopathy, MONDO:0004994",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2026-03-23T11:20:46.693056+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.63",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: ALMS1 as ready",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2026-03-23T11:20:46.686475+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.63",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: alms1 has been classified as Green List (High Evidence).",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2026-03-23T11:18:25.319453+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.63",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ALMS1 were changed from OMIM 203800 to Cardiomyopathy, MONDO:0004994",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2026-03-23T11:17:23.248735+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.62",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene ALMS1 from panel Cardiomyopathy_Paediatric",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-23T11:17:23.070968+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.62",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ALMS1 was added\ngene: ALMS1 was added to Dilated Cardiomyopathy. Sources: Expert Review Green,Expert Review,NHS GMS\nMode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALMS1 were set to 15689433\nPhenotypes for gene: ALMS1 were set to OMIM 203800",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2026-03-23T11:15:47.289576+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.224",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: ALMS1 as ready",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2026-03-23T11:15:47.279219+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.224",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: alms1 has been classified as Green List (High Evidence).",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2026-03-23T11:15:41.938287+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.224",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, MONDO:0004994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2026-03-23T10:54:04.636221+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMC3 were changed from neurodevelopmental disorder, MONDO:0700092, PSMC3-related; Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354 to Ebstein-Bezieau neurodevelopmental syndrome, MIM# 621539; Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2026-03-23T10:53:14.785589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMC3 were changed from neurodevelopmental disorder, MONDO:0700092, PSMC3-related; Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354 to Ebstein-Bezieau neurodevelopmental syndrome, MIM# 621539; Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2026-03-23T10:52:48.346416+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSMC3: Changed phenotypes: Ebstein-Bezieau neurodevelopmental syndrome, MIM# 621539, Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2026-03-22T13:06:19.883142+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.338",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CLRN2 were set to 33496845",
"entity_name": "CLRN2",
"entity_type": "gene"
},
{
"created": "2026-03-22T13:05:50.441388+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.337",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CLRN2 as Green List (high evidence)",
"entity_name": "CLRN2",
"entity_type": "gene"
},
{
"created": "2026-03-22T13:05:50.431312+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.337",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: clrn2 has been classified as Green List (High Evidence).",
"entity_name": "CLRN2",
"entity_type": "gene"
},
{
"created": "2026-03-22T13:05:07.684047+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.336",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene CLRN2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-22T13:03:58.962020+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4605",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CLRN2 were set to 33496845",
"entity_name": "CLRN2",
"entity_type": "gene"
},
{
"created": "2026-03-22T13:03:29.705783+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4604",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CLRN2 as Green List (high evidence)",
"entity_name": "CLRN2",
"entity_type": "gene"
},
{
"created": "2026-03-22T13:03:29.694483+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4604",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: clrn2 has been classified as Green List (High Evidence).",
"entity_name": "CLRN2",
"entity_type": "gene"
},
{
"created": "2026-03-22T13:02:57.813468+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4603",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CLRN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39446282, 38243601, 33496845; Phenotypes: hearing loss, autosomal recessive 117, MONDO:0030905; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLRN2",
"entity_type": "gene"
},
{
"created": "2026-03-22T12:35:33.833054+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.133",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CEP112 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-22T12:35:33.776017+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.133",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CEP112 was added\ngene: CEP112 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CEP112 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP112 were set to 39349455; 31654588\nPhenotypes for gene: CEP112 were set to Spermatogenic failure 44, MIM#619044; Acephalic spermatozoa; infertility",
"entity_name": "CEP112",
"entity_type": "gene"
},
{
"created": "2026-03-22T12:35:15.389402+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4603",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CEP112 were set to 31654588",
"entity_name": "CEP112",
"entity_type": "gene"
},
{
"created": "2026-03-22T12:34:52.462190+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4602",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CEP112",
"entity_type": "gene"
},
{
"created": "2026-03-22T12:34:43.633838+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4602",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: CEP112: Added comment: PMIDs 31654588, 39349455 report a total of 4 unrelated families (4patients) with biallelic loss‑of‑function CEP112 variants causing male infertility phenotypes ranging from acephalic spermatozoa to oligoasthenoteratozoospermia and non‑obstructive azoospermia. Functional evidence includes loss of CEP112 protein in patient sperm, mouse Cep112 knockout infertility with ICSI rescue, and impaired phase‑separation of mutant proteins, supporting a diagnostic‑grade association of CEP112 with spermatogenic failure 44.; Changed publications: 39349455, 31654588; Changed phenotypes: spermatogenic failure 44, MONDO:0033622",
"entity_name": "CEP112",
"entity_type": "gene"
},
{
"created": "2026-03-22T12:33:37.552616+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4602",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CEP112 as Green List (high evidence)",
"entity_name": "CEP112",
"entity_type": "gene"
},
{
"created": "2026-03-22T12:33:37.545676+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4602",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cep112 has been classified as Green List (High Evidence).",
"entity_name": "CEP112",
"entity_type": "gene"
},
{
"created": "2026-03-22T12:33:11.630219+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4601",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: CEP112: Added comment: Now 4 unrelated biallelic male cases and a supporting mouse model.; Changed rating: GREEN; Changed publications: 31654588, 39349455; Changed phenotypes: spermatogenic failure MONDO:0004983",
"entity_name": "CEP112",
"entity_type": "gene"
},
{
"created": "2026-03-20T16:33:27.731568+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4601",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: SLC30A5: Rating: AMBER; Mode of pathogenicity: None; Publications: 39790720; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC30A5",
"entity_type": "gene"
},
{
"created": "2026-03-20T15:38:49.249516+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4601",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: RUSC2 were changed from Mental retardation, autosomal recessive 61, MIM#\t617773 to Intellectual developmental disorder, autosomal recessive 61 MIM#617773",
"entity_name": "RUSC2",
"entity_type": "gene"
},
{
"created": "2026-03-20T15:38:38.053966+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4600",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: RUSC2 were set to 27612186",
"entity_name": "RUSC2",
"entity_type": "gene"
},
{
"created": "2026-03-20T15:38:22.395947+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4599",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RUSC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 36553572, 27612186; Phenotypes: Intellectual developmental disorder, autosomal recessive 61 MIM#617773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RUSC2",
"entity_type": "gene"
},
{
"created": "2026-03-20T14:41:18.724733+11:00",
"panel_name": "Movement Disorders Superpanel",
"panel_id": 3531,
"panel_version": "3.187",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Early-onset Parkinson disease; Ataxia; Brain Channelopathies; Dystonia and Chorea; Paroxysmal Dyskinesia",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-20T14:02:14.018790+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TEX15 as ready",
"entity_name": "TEX15",
"entity_type": "gene"
},
{
"created": "2026-03-20T14:02:14.008563+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tex15 has been classified as Green List (High Evidence).",
"entity_name": "TEX15",
"entity_type": "gene"
},
{
"created": "2026-03-20T14:01:52.605876+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.132",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene TEX15 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-20T14:01:52.536125+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TEX15 was added\ngene: TEX15 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: TEX15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TEX15 were set to 26199321; 28355598; 28303806\nPhenotypes for gene: TEX15 were set to spermatogenic failure MONDO:0004983",
"entity_name": "TEX15",
"entity_type": "gene"
},
{
"created": "2026-03-20T13:56:47.685063+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4599",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: RPL10L were changed from MONDO_0004983, oligo-/azoospermia to Male infertility MONDO:0005372, RPL10L-related",
"entity_name": "RPL10L",
"entity_type": "gene"
},
{
"created": "2026-03-20T13:56:34.094916+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4598",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: RPL10L were set to PMID:32111475",
"entity_name": "RPL10L",
"entity_type": "gene"
},
{
"created": "2026-03-20T13:56:12.362552+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4597",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RPL10L: Rating: AMBER; Mode of pathogenicity: None; Publications: 39625557; Phenotypes: Male infertility MONDO:0005372, RPL10L-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPL10L",
"entity_type": "gene"
},
{
"created": "2026-03-20T13:49:59.893308+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.608",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied gene TNK2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-20T13:49:59.671343+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.608",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: TNK2 was added\ngene: TNK2 was added to Regression. Sources: Expert Review Amber,Victorian Clinical Genetics Services\nMode of inheritance for gene: TNK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TNK2 were set to 27977884; 23686771; 31517310\nPhenotypes for gene: TNK2 were set to late onset infantile epilepsy; Mayer-Rokitansky-Küster-Hauser syndrome",
"entity_name": "TNK2",
"entity_type": "gene"
},
{
"created": "2026-03-20T13:49:22.763992+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4597",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: RNF212B were changed from Infertility disorder, MONDO:0005047 to Infertility disorder, MONDO:0005047, RNF212B-related",
"entity_name": "RNF212B",
"entity_type": "gene"
},
{
"created": "2026-03-20T13:49:19.468559+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.709",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied gene TNK2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-20T13:49:18.967345+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.709",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: TNK2 was added\ngene: TNK2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Victorian Clinical Genetics Services\nMode of inheritance for gene: TNK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TNK2 were set to 27977884; 23686771; 31517310\nPhenotypes for gene: TNK2 were set to late onset infantile epilepsy; Mayer-Rokitansky-Küster-Hauser syndrome",
"entity_name": "TNK2",
"entity_type": "gene"
},
{
"created": "2026-03-20T13:49:09.124085+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4596",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: RNF212B were set to 37124137",
"entity_name": "RNF212B",
"entity_type": "gene"
},
{
"created": "2026-03-20T13:48:47.044223+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4595",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RNF212B: Rating: AMBER; Mode of pathogenicity: None; Publications: 37124137, 40259604; Phenotypes: Infertility disorder, MONDO:0005047, RNF212B-related; Mode of inheritance: None",
"entity_name": "RNF212B",
"entity_type": "gene"
},
{
"created": "2026-03-20T13:48:36.600288+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.389",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Added reviews for gene TNK2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-20T13:47:43.004074+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.39",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied gene TNK2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-20T13:47:42.837064+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.39",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: TNK2 was added\ngene: TNK2 was added to Disorders of immune dysregulation. Sources: Expert Review Amber,Victorian Clinical Genetics Services\nMode of inheritance for gene: TNK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TNK2 were set to 27977884; 23686771; 31517310\nPhenotypes for gene: TNK2 were set to late onset infantile epilepsy; Mayer-Rokitansky-Küster-Hauser syndrome",
"entity_name": "TNK2",
"entity_type": "gene"
},
{
"created": "2026-03-20T13:45:57.498067+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4595",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "changed review comment from: TNK2 encodes a cytosolic, nonreceptor tyrosine kinase that shows high expression in the brain.\r\n\r\nSummary of literature on gene disease association thus far:\r\n\r\nMayer-Rokitansky-Kuster-Hauser syndrome\r\nSingle patient reported in PMID: 31517310, no functional studies\r\n\r\nNeurodevelopmental disorder, MONDO:0700092\r\nPMID: 39493104, 27977884, 23686771 - 4 families and 7 children affected with infantile onset epilepsy/spasms with associated regression. All had biallelic missense variants in TNK2. No functional studies thus far in regards to epilepsy phenotype. \r\n\r\nSLE predisposition\r\n1 family with 2 affected individuals with SLE with compound heterozygous variants in TNK2. Supportive functional studies showing missense variants detected resulted in loss of function, somewhat supportive mouse study.; to: TNK2 encodes a cytosolic, nonreceptor tyrosine kinase that shows high expression in the brain.\r\n\r\nSummary of literature on gene disease association thus far:\r\n\r\nMayer-Rokitansky-Kuster-Hauser syndrome\r\nSingle patient reported in PMID: 31517310 with monoallelic TNK2 variant, no functional studies\r\n\r\nNeurodevelopmental disorder, MONDO:0700092\r\nPMID: 39493104, 27977884, 23686771 - 4 families and 7 children affected with infantile onset epilepsy/spasms with associated regression. All had biallelic missense variants in TNK2. No functional studies thus far in regards to epilepsy phenotype. \r\n\r\nSLE predisposition\r\nPMID: 38883731 - 1 family with 2 affected individuals with SLE with compound heterozygous missense variants in TNK2. Supportive functional studies showing missense variants detected resulted in loss of function, somewhat supportive mouse study.",
"entity_name": "TNK2",
"entity_type": "gene"
},
{
"created": "2026-03-20T13:45:14.962442+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4595",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: TNK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 39570652, 39493104, 31517310, 27977884, 23686771; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:0017771, Lupus erythematosus MONDO:0004670; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TNK2",
"entity_type": "gene"
},
{
"created": "2026-03-20T13:32:05.237257+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4595",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: RIPOR2 were set to 24958875; 32631815",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2026-03-20T13:31:36.943322+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4594",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RIPOR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 37164627; Phenotypes: Deafness, autosomal dominant 21, MIM#607017; Mode of inheritance: None",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2026-03-20T13:13:08.762420+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4594",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: RHOB were changed from Cerebral Palsy to Cerebral palsy MONDO:0006497, RHOB-related",
"entity_name": "RHOB",
"entity_type": "gene"
},
{
"created": "2026-03-20T13:12:48.457497+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4593",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: RHOB were set to 32989326",
"entity_name": "RHOB",
"entity_type": "gene"
},
{
"created": "2026-03-20T13:12:28.649198+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4592",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "edited their review of gene: RHOB: Added comment: PMID: 32989326 2 CP patients de novo for the same missense S73F, absent from gnomad\r\n\r\nPMID: 39080495 no new patients, created a KI rabbit model of S73F which showed CP symptoms ie periventricular leukomalacia and spastic-dystonic diplegia. Also showed the variant activates ACAT1 altering lipid levels which may lead to neuronal and white matter damage resulting in CP.\r\n\r\nStill only 2 patients with the same variant reported - amber; Changed rating: AMBER; Changed publications: 32989326, 39080495; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RHOB",
"entity_type": "gene"
}
]
}