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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=7",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=5",
"results": [
{
"created": "2026-03-31T16:42:43.732477+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4680",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: SIPA1L3: Rating: AMBER; Mode of pathogenicity: None; Publications: 34603379; Phenotypes: Cataract 45 MIM#616851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIPA1L3",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:42:05.538208+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RARG was added\ngene: RARG was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RARG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RARG were set to 41830175\nPhenotypes for gene: RARG were set to Ectodermal dysplasia syndrome, MONDO:0019287, RARG-related\nReview for gene: RARG was set to RED\nAdded comment: PMID 41830175 reports four affected members from a single family with a heterozygous truncating RARG variant (c.1237C>T, p.Arg413*) causing childhood‑onset urothelial keratinising squamous metaplasia (KDSM) and associated ectodermal features; the variant segregates in an autosomal‑dominant pattern and functional assays demonstrate dominant‑negative loss‑of‑function, but evidence is limited to one family. \nSources: Literature",
"entity_name": "RARG",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:38:54.364881+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEU4 as ready",
"entity_name": "NEU4",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:38:54.354025+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: neu4 has been classified as Red List (Low Evidence).",
"entity_name": "NEU4",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:38:32.267417+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.349",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene NEU4 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T16:38:32.043488+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEU4 was added\ngene: NEU4 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Literature\nMode of inheritance for gene: NEU4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEU4 were set to 41833579\nPhenotypes for gene: NEU4 were set to Hearing loss disorder, MONDO:0005365, NEU4-related",
"entity_name": "NEU4",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:38:24.809116+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.48",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: RBMX were changed from Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related to Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:37:41.874798+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEU4 as ready",
"entity_name": "NEU4",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:37:41.867158+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: neu4 has been classified as Red List (Low Evidence).",
"entity_name": "NEU4",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:37:33.066073+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEU4 was added\ngene: NEU4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NEU4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEU4 were set to 41833579\nPhenotypes for gene: NEU4 were set to Hearing loss disorder, MONDO:0005365, NEU4-related\nReview for gene: NEU4 was set to RED\nAdded comment: NEU4 encodes neuraminidase‑14, a sialidase involved in neuraminic acid catabolism and neuronal development. PMID 41833579 reports 2 individuals from a single family with biallelic compound heterozygous missense variants presenting with congenital moderate sensorineural hearing loss. Functional assays demonstrated markedly reduced neuraminidase activity and Neu4‑/‑ mice displayed mild hearing loss, supporting pathogenicity. \nSources: Literature",
"entity_name": "NEU4",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:34:46.074361+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.47",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: RBMX were set to 39263607",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:34:01.577686+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.46",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: RBMX were set to 25256757; 34260915; 37277488; 39263607",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:33:32.222396+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.46",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: RBMX were changed from Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238; Gustavson syndrome, MIM# 309555; Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related to Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:32:58.448575+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4678",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: RPL9 were changed from Diamond Blackfan anaemia to Diamond-Blackfan anaemia MONDO:0015253, RPL9-related",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:32:38.290678+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4677",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: RPL9 were set to 29114930; 20116044; 31799629",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:32:11.698199+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4676",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RPL9: Rating: AMBER; Mode of pathogenicity: None; Publications: 34094714, 31799629, 29114930; Phenotypes: Diamond-Blackfan anaemia MONDO:0015253, RPL9-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:27:23.398926+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.45",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Copied gene RBMX from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T16:27:23.127585+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.45",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: RBMX was added\ngene: RBMX was added to Motor Neurone Disease. Sources: Expert Review Amber,Expert Review\nMode of inheritance for gene: RBMX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RBMX were set to 25256757; 34260915; 37277488; 39263607\nPhenotypes for gene: RBMX were set to Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238; Gustavson syndrome, MIM# 309555; Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:26:29.757808+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.56",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Copied gene RBMX from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T16:26:29.534253+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.56",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: RBMX was added\ngene: RBMX was added to Early-onset Dementia. Sources: Expert Review Amber,Expert Review\nMode of inheritance for gene: RBMX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RBMX were set to 25256757; 34260915; 37277488; 39263607\nPhenotypes for gene: RBMX were set to Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238; Gustavson syndrome, MIM# 309555; Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:20:09.704772+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4676",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: RBMX were changed from Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238; Gustavson syndrome, MIM# 309555 to Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238; Gustavson syndrome, MIM# 309555; Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:19:45.243820+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4675",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: RBMX were set to 25256757; 34260915; 37277488",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:19:23.115131+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4674",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RBMX: Rating: AMBER; Mode of pathogenicity: None; Publications: 39263607; Phenotypes: Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:05:51.131690+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP5B1 as Green List (high evidence)",
"entity_name": "AP5B1",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:05:51.121413+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap5b1 has been classified as Green List (High Evidence).",
"entity_name": "AP5B1",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:05:03.062660+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP5B1 were set to 40081374",
"entity_name": "AP5B1",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:04:52.788299+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP5B1 as Green List (high evidence)",
"entity_name": "AP5B1",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:04:52.778294+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap5b1 has been classified as Green List (High Evidence).",
"entity_name": "AP5B1",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:01:19.806201+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene AP5B1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T16:01:18.429325+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene AP5B1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T15:59:24.622140+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: AP5B1: Two more families reported.",
"entity_name": "AP5B1",
"entity_type": "gene"
},
{
"created": "2026-03-31T15:59:02.216258+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP5B1 were set to 40081374",
"entity_name": "AP5B1",
"entity_type": "gene"
},
{
"created": "2026-03-31T15:58:41.582061+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP5B1 as Green List (high evidence)",
"entity_name": "AP5B1",
"entity_type": "gene"
},
{
"created": "2026-03-31T15:58:41.574745+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap5b1 has been classified as Green List (High Evidence).",
"entity_name": "AP5B1",
"entity_type": "gene"
},
{
"created": "2026-03-31T15:58:24.632574+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP5B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41830174; Phenotypes: Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP5B1",
"entity_type": "gene"
},
{
"created": "2026-03-31T15:54:34.141897+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASAH2 as ready",
"entity_name": "ASAH2",
"entity_type": "gene"
},
{
"created": "2026-03-31T15:54:34.134135+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asah2 has been classified as Red List (Low Evidence).",
"entity_name": "ASAH2",
"entity_type": "gene"
},
{
"created": "2026-03-31T15:54:22.126198+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.729",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene ASAH2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T15:54:21.655996+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASAH2 was added\ngene: ASAH2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature\nMode of inheritance for gene: ASAH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASAH2 were set to 41808410\nPhenotypes for gene: ASAH2 were set to Neurodevelopmental disorder, MONDO:0700092",
"entity_name": "ASAH2",
"entity_type": "gene"
},
{
"created": "2026-03-31T15:53:25.613128+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASAH2 as ready",
"entity_name": "ASAH2",
"entity_type": "gene"
},
{
"created": "2026-03-31T15:53:25.605748+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asah2 has been classified as Red List (Low Evidence).",
"entity_name": "ASAH2",
"entity_type": "gene"
},
{
"created": "2026-03-31T15:53:13.419204+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASAH2 was added\ngene: ASAH2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ASAH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASAH2 were set to 41808410\nPhenotypes for gene: ASAH2 were set to Neurodevelopmental disorder, MONDO:0700092\nReview for gene: ASAH2 was set to RED\nAdded comment: PMID 41808410 reports a single individual with biallelic loss-of-function (hypomorphic) missense variants presenting with a childhood-onset neurodevelopmental disorder characterized by cognitive impairment, neuropathy, ophthalmoplegia, and progressive cerebellar and extraocular muscle atrophy. Drosophila functional assays demonstrate reduced ASAH2 transcript and protein levels and neuromotor deficits, supporting loss-of-function. \nSources: Literature",
"entity_name": "ASAH2",
"entity_type": "gene"
},
{
"created": "2026-03-31T15:48:50.373034+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIPK4 as ready",
"entity_name": "HIPK4",
"entity_type": "gene"
},
{
"created": "2026-03-31T15:48:50.362877+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hipk4 has been classified as Green List (High Evidence).",
"entity_name": "HIPK4",
"entity_type": "gene"
},
{
"created": "2026-03-31T15:48:32.331021+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.137",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene HIPK4 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T15:48:32.264138+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HIPK4 was added\ngene: HIPK4 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: HIPK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HIPK4 were set to 10.64898/2026.03.04.26346694; 35931115\nPhenotypes for gene: HIPK4 were set to Infertility disorder, MONDO:0005047, HIPK4-related",
"entity_name": "HIPK4",
"entity_type": "gene"
},
{
"created": "2026-03-31T15:47:48.140222+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIPK4 as ready",
"entity_name": "HIPK4",
"entity_type": "gene"
},
{
"created": "2026-03-31T15:47:48.132091+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hipk4 has been classified as Green List (High Evidence).",
"entity_name": "HIPK4",
"entity_type": "gene"
},
{
"created": "2026-03-31T15:47:39.168365+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HIPK4 as Green List (high evidence)",
"entity_name": "HIPK4",
"entity_type": "gene"
},
{
"created": "2026-03-31T15:47:39.157109+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hipk4 has been classified as Green List (High Evidence).",
"entity_name": "HIPK4",
"entity_type": "gene"
},
{
"created": "2026-03-31T15:46:07.399757+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HIPK4 was added\ngene: HIPK4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HIPK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HIPK4 were set to 10.64898/2026.03.04.26346694; 35931115\nPhenotypes for gene: HIPK4 were set to Infertility disorder, MONDO:0005047, HIPK4-related\nReview for gene: HIPK4 was set to GREEN\nAdded comment: PMID 35931115 reports 10 individuals from 10 unrelated families with heterozygous loss‑of‑function HIPK4 variants presenting with nonobstructive azoospermia; functional assays demonstrate reduced protein for a truncating variant and Hipk4 knockout mice are sterile, supporting a monoallelic loss‑of‑function disease mechanism. \nSources: Literature",
"entity_name": "HIPK4",
"entity_type": "gene"
},
{
"created": "2026-03-31T15:35:13.510983+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSEN54 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2026-03-31T15:17:11.147559+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OCA2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2026-03-31T15:16:55.046573+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OCA2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2026-03-30T16:53:50.496980+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4668",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: IGFBP7: Rating: AMBER; Mode of pathogenicity: None; Publications: 35299703, 35464689; Phenotypes: familial retinal arterial macroaneurysm, MONDO:0013640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IGFBP7",
"entity_type": "gene"
},
{
"created": "2026-03-30T15:00:59.863554+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.18",
"user_name": "Eleanor Ludington",
"item_type": "entity",
"text": "gene: PI4KA was added\ngene: PI4KA was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PI4KA were set to PMID: 25855803\nPhenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531\nReview for gene: PI4KA was set to AMBER\nAdded comment: 3 individuals from the same family described in PMID: 25855803 with biallelic PI4KA variants (nonsense variant and missense variant) presenting with arthrogryposis, polymicrogyria and cerebellar hypoplasia. \nSources: Literature",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2026-03-30T13:27:57.690944+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4668",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Additional reports of >5 unrelated probands with reported heterozygous variants in HAND1 (missense, promotor and 5'UTR variants)\r\nAffected individuals presented with congenital heart disease, including septal defects, conotruncal malformations, tetralogy of Fallot, double outlet right ventricle, ventricular septal defect) of pediatric onset. \r\n\r\nPMID:39107573 - Dual‑luciferase reporter assays for coding variants and luciferase/EMSA assays for promoter variants demonstrate loss‑of‑function of HAND1.; to: Additional reports of >5 unrelated probands with reported heterozygous variants in HAND1 (missense, promotor and 5'UTR variants)\r\nAffected individuals presented with congenital heart disease, including septal defects, conotruncal malformations, tetralogy of Fallot, double outlet right ventricle, ventricular septal defect) of pediatric onset. \r\n\r\nPMID:39107573 - Dual‑luciferase reporter assays for coding variants and luciferase/EMSA assays for promoter variants demonstrate loss‑of‑function of HAND1.\r\n\r\nClassified as MODERATE by ClinGen Congenital Heart Disease GCEP on 04/04/2023 - https://search.clinicalgenome.org/CCID:005032",
"entity_name": "HAND1",
"entity_type": "gene"
},
{
"created": "2026-03-30T13:15:14.361200+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.534",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Added reviews for gene HAND1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-30T13:13:51.841965+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4668",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: HAND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39537763, 39107573, 38551686; Phenotypes: congenital heart disease, MONDO:0005453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "HAND1",
"entity_type": "gene"
},
{
"created": "2026-03-30T12:09:21.748621+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.728",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Added reviews for gene GTF2E2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-30T12:08:41.526571+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.84",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Added reviews for gene GTF2E2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-30T12:07:44.984511+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4668",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: GTF2E2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37793898, 31064989, 28973399; Phenotypes: trichothiodystrophy 6, nonphotosensitive, MONDO:0014841; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2026-03-30T11:48:15.731411+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.51",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Added reviews for gene UQCRC1 from panel Incidentalome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-30T11:47:03.992566+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.433",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: UQCRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41783485, 39752790, 33141179, 33070102, 30788857; Phenotypes: Parkinsonism with polyneuropathy, MONDO:0036193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UQCRC1",
"entity_type": "gene"
},
{
"created": "2026-03-30T11:03:54.666705+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.427",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Added reviews for gene GNPNAT1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-30T11:02:56.757711+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4668",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: GNPNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39945447, 36097642; Phenotypes: osteochondrodysplasia, MONDO:0005516; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNPNAT1",
"entity_type": "gene"
},
{
"created": "2026-03-30T10:18:23.470478+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.75",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Added reviews for gene GAS2L2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-30T10:17:13.556388+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4668",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: GAS2L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36104176; Phenotypes: ciliary dyskinesia, primary, 41, MONDO:0032757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2026-03-30T10:03:50.041115+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.727",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: ABCB7 as Amber List (moderate evidence)",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2026-03-30T10:03:50.030696+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.727",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: abcb7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2026-03-30T10:03:15.085948+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.726",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: ABCB7 was added\ngene: ABCB7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ABCB7 were set to 11050011; 26242992\nPhenotypes for gene: ABCB7 were set to Anaemia, sideroblastic, with ataxia, MIM# 301310\nReview for gene: ABCB7 was set to AMBER\nAdded comment: Some limited reports of developmental delay/ID in the literature and mentioned in the ClinGen review \nSources: Literature",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2026-03-30T10:01:55.364800+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.26",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Added reviews for gene FXYD2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-30T10:00:27.739913+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4668",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Classified as MODERATE by ClinGen Tubulopathy VCEP 29/06/2023 - https://search.clinicalgenome.org/CCID:004896 - this is based of the reports of a singular variant in multiple families\r\n\r\nPMID: 40428357 - reports a Polish family (2 sibs and mother) presenting with hypercalciuria, glucosuria and mild proteinuria. The mother presented with a milder phenotype compared to the children.\r\nc.80G>A, p.(Arg27His) - Variant is present in gnomAD v4.1 with global FAF - 0.00098% (23 hets globally)\r\n\r\nUpgrade to green given a second variant that is shown to segregate in affected members of the family (siblings and mother); to: Classified as MODERATE by ClinGen Tubulopathy VCEP 29/06/2023 - https://search.clinicalgenome.org/CCID:004896 - this is based of the reports of a singular variant in multiple families\r\n\r\nPMID: 40428357 - reports a Polish family (2 sibs and mother) presenting with hypercalciuria, glucosuria and mild proteinuria. The mother presented with a milder phenotype compared to the children.\r\nc.80G>A, p.(Arg27His) - Variant is present in gnomAD v4.1 with global FAF - 0.00098% (23 hets globally)\r\n\r\nRemain as Amber given that only two variants have been reported in affected individuals and no supportive functional evidence has been reported as of yet. ",
"entity_name": "FXYD2",
"entity_type": "gene"
},
{
"created": "2026-03-30T09:59:09.249401+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4668",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: FXYD2: Changed rating: AMBER",
"entity_name": "FXYD2",
"entity_type": "gene"
},
{
"created": "2026-03-30T09:57:21.824733+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4668",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: FXYD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40428357; Phenotypes: Renal hypomagnesemia 2, MONDO:0007937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "FXYD2",
"entity_type": "gene"
},
{
"created": "2026-03-29T14:22:14.671534+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.433",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: CCNF: Changed rating: AMBER",
"entity_name": "CCNF",
"entity_type": "gene"
},
{
"created": "2026-03-28T18:34:55.062956+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MARS2 as Red List (low evidence)",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2026-03-28T18:34:55.053115+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mars2 has been classified as Red List (Low Evidence).",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2026-03-28T15:18:36.048242+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: BPGM were set to 1421379; 27651169; 25015942",
"entity_name": "BPGM",
"entity_type": "gene"
},
{
"created": "2026-03-28T15:18:18.304176+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: BPGM 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": "BPGM",
"entity_type": "gene"
},
{
"created": "2026-03-28T15:18:06.172674+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BPGM as Green List (high evidence)",
"entity_name": "BPGM",
"entity_type": "gene"
},
{
"created": "2026-03-28T15:18:06.165753+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bpgm has been classified as Green List (High Evidence).",
"entity_name": "BPGM",
"entity_type": "gene"
},
{
"created": "2026-03-28T15:17:15.480623+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.49",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene BPGM from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-28T15:16:23.818095+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4668",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: BPGM were set to 1421379; 27651169; 25015942",
"entity_name": "BPGM",
"entity_type": "gene"
},
{
"created": "2026-03-28T15:15:52.128878+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4667",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: BPGM 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": "BPGM",
"entity_type": "gene"
},
{
"created": "2026-03-28T15:15:35.310759+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4666",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BPGM as Green List (high evidence)",
"entity_name": "BPGM",
"entity_type": "gene"
},
{
"created": "2026-03-28T15:15:35.298468+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4666",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bpgm has been classified as Green List (High Evidence).",
"entity_name": "BPGM",
"entity_type": "gene"
},
{
"created": "2026-03-28T15:15:21.362872+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4665",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: BPGM: Rating: GREEN; Mode of pathogenicity: None; Publications: 36177683, 35142155, 33216349, 29790589, 27651169; Phenotypes: hemolytic anemia due to diphosphoglycerate mutase deficiency, MONDO:0009113; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "BPGM",
"entity_type": "gene"
},
{
"created": "2026-03-28T14:35:01.038656+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.426",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene BNIP1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-28T14:33:34.620484+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4665",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: BNIP1: Added comment: PMIDs 35266227 and 39706863 report a total of 3 unrelated families with homozygous hypomorphic BNIP1 variants with childhood‑onset spondylo‑epiphyseal dysplasia. Affected individuals present with disproportionate short stature, vertebral and epiphyseal abnormalities. Functional studies in the two families from PMID 35266227 demonstrate abnormal splicing, ~50% reduction of BNIP1 protein, accumulation of LC3B‑positive autophagosomes and impaired autophagic flux, supporting a loss‑of‑function mechanism. The third family adds an independent case without functional validation. No contradictory evidence is reported.; Changed publications: 39706863, 35266227; Changed phenotypes: Syndromic disease, MONDO:0002254",
"entity_name": "BNIP1",
"entity_type": "gene"
},
{
"created": "2026-03-28T14:21:49.181917+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.56",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene BMP10 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-28T14:21:25.184770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4665",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: BMP10: Rating: AMBER; Mode of pathogenicity: None; Publications: 38514094, 38322548, 36673052, 35737725, 33187088, 31243186, 30872557, 30578383; Phenotypes: pulmonary arterial hypertension, MONDO:0015924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "BMP10",
"entity_type": "gene"
},
{
"created": "2026-03-28T13:34:53.601008+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association with ceroid lipofuscinosis.",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2026-03-28T13:34:31.023419+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLN3: Added comment: At least 20 families reported with isolated RP.; Changed publications: 7553855, 28542676, 33507216; Changed phenotypes: Ceroid lipofuscinosis, neuronal, 3, MIM# 204200, MONDO:0008767, Retinitis pigmentosa 101, MIM# 621548",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2026-03-28T13:33:26.621410+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN3 as ready",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2026-03-28T13:33:26.614376+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln3 has been classified as Green List (High Evidence).",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2026-03-28T13:33:24.573900+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLN3 were changed from Retinitis pigmentosa; Juvenile neuronal ceroid lipofuscinosis to Retinitis pigmentosa 101, MIM# 621548",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2026-03-28T13:33:15.361332+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLN3 were set to ",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2026-03-28T13:33:02.947300+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 101, MIM# 621548; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2026-03-27T21:14:11.503020+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4665",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DIO1 were set to ",
"entity_name": "DIO1",
"entity_type": "gene"
}
]
}