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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=62",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=60",
"results": [
{
"created": "2026-01-12T09:28:28.670709+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.506",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37430-Loss was added\nRegion: ISCA-37430-Loss was added to Fetal anomalies. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM#\t247200",
"entity_name": "ISCA-37430-Loss",
"entity_type": "region"
},
{
"created": "2026-01-12T09:28:22.240321+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.407",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37430-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-12T09:28:21.933225+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.407",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37430-Loss was added\nRegion: ISCA-37430-Loss was added to Cerebral Palsy. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM#\t247200",
"entity_name": "ISCA-37430-Loss",
"entity_type": "region"
},
{
"created": "2026-01-12T09:27:43.149709+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.581",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37430-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-12T09:27:42.890426+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.581",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37430-Loss was added\nRegion: ISCA-37430-Loss was added to Callosome. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM#\t247200",
"entity_name": "ISCA-37430-Loss",
"entity_type": "region"
},
{
"created": "2026-01-09T20:59:40.864462+11:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: GCH1 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": "GCH1",
"entity_type": "gene"
},
{
"created": "2026-01-09T20:59:05.530791+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: GCH1 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": "GCH1",
"entity_type": "gene"
},
{
"created": "2026-01-09T20:56:34.127342+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4044",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: GCH1 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": "GCH1",
"entity_type": "gene"
},
{
"created": "2026-01-09T20:55:42.245011+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4043",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GCH1 were changed from Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Hereditary spastic paraplegia MONDO:0019064, GCH1-related to GTP cyclohydrolase I deficiency MONDO:0100184",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2026-01-09T19:49:47.087286+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.140",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FAM83G were set to PMID: 29138053",
"entity_name": "FAM83G",
"entity_type": "gene"
},
{
"created": "2026-01-09T19:49:02.407722+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.139",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FAM83G as Green List (high evidence)",
"entity_name": "FAM83G",
"entity_type": "gene"
},
{
"created": "2026-01-09T19:49:02.399370+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.139",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fam83g has been classified as Green List (High Evidence).",
"entity_name": "FAM83G",
"entity_type": "gene"
},
{
"created": "2026-01-09T19:48:02.064441+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.138",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene FAM83G from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-09T19:47:24.559827+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.82",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene FAM83G from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-09T19:47:24.492527+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.82",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FAM83G was added\ngene: FAM83G was added to Hair disorders. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: FAM83G was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM83G were set to 41384122; 39449644; 39043225; 29138053\nPhenotypes for gene: FAM83G were set to Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related",
"entity_name": "FAM83G",
"entity_type": "gene"
},
{
"created": "2026-01-09T19:46:42.448378+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4042",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FAM83G were set to 29138053",
"entity_name": "FAM83G",
"entity_type": "gene"
},
{
"created": "2026-01-09T19:46:23.281087+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4041",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FAM83G as Green List (high evidence)",
"entity_name": "FAM83G",
"entity_type": "gene"
},
{
"created": "2026-01-09T19:46:23.264565+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4041",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fam83g has been classified as Green List (High Evidence).",
"entity_name": "FAM83G",
"entity_type": "gene"
},
{
"created": "2026-01-09T19:46:08.233387+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4040",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FAM83G: Rating: GREEN; Mode of pathogenicity: None; Publications: 41384122, 39449644, 39043225, 29138053; Phenotypes: Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM83G",
"entity_type": "gene"
},
{
"created": "2026-01-09T18:57:46.895227+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.96",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: PMM2 as ready",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2026-01-09T18:57:46.887487+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.96",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pmm2 has been classified as Green List (High Evidence).",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2026-01-09T18:52:42.212464+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.96",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene PMM2 from panel Congenital Disorders of Glycosylation",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-09T18:52:42.039550+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.96",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PMM2 was added\ngene: PMM2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PMM2 were set to 21541725\nPhenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia 212065",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2026-01-09T18:46:35.211126+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene EGFLAM from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-09T18:46:35.129536+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EGFLAM was added\ngene: EGFLAM was added to Congenital Stationary Night Blindness. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: EGFLAM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EGFLAM were set to 41343198; 18641643\nPhenotypes for gene: EGFLAM were set to Congenital stationary night blindness MONDO:0016293, EGFLAM-related",
"entity_name": "EGFLAM",
"entity_type": "gene"
},
{
"created": "2026-01-09T18:46:02.561386+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4040",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EGFLAM as ready",
"entity_name": "EGFLAM",
"entity_type": "gene"
},
{
"created": "2026-01-09T18:46:02.554491+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4040",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: egflam has been classified as Amber List (Moderate Evidence).",
"entity_name": "EGFLAM",
"entity_type": "gene"
},
{
"created": "2026-01-09T18:43:20.243844+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4040",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EGFLAM as Amber List (moderate evidence)",
"entity_name": "EGFLAM",
"entity_type": "gene"
},
{
"created": "2026-01-09T18:43:20.224057+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4040",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: egflam has been classified as Amber List (Moderate Evidence).",
"entity_name": "EGFLAM",
"entity_type": "gene"
},
{
"created": "2026-01-09T18:43:05.872431+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4039",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EGFLAM was added\ngene: EGFLAM was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EGFLAM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EGFLAM were set to 41343198; 18641643\nPhenotypes for gene: EGFLAM were set to Congenital stationary night blindness MONDO:0016293, EGFLAM-related\nReview for gene: EGFLAM was set to AMBER\nAdded comment: PMID 41343198 reports two individuals from two unrelated Moroccan families with autosomal recessive loss-of-function truncating EGFLAM variants presenting with complete congenital stationary night blindness (cCSNB), characterised by childhood-onset night blindness, high myopia, reduced visual acuity, and an electronegative Schubert-Bornschein ERG pattern. The homozygous frameshift (p.Val522Glufs*18) and nonsense (p.Arg599*) variants cosegregated with disease.\r\nPMID 18641643 Pikachurin null-mutant mice showed improper apposition of the bipolar cell dendritic tips to the photoreceptor ribbon synapses, resulting in alterations in synaptic signal transmission and visual function. \nSources: Literature",
"entity_name": "EGFLAM",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:32:30.471027+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK4 as ready",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:32:30.463783+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:32:28.184966+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK4 were changed from Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048 to Neurodevelopmental disorder, MONDO:0700092",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:32:06.479128+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK4 as ready",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:32:06.469894+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:32:01.867439+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK4 were changed from Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048 to Neurodevelopmental disorder, MONDO:0700092, CDK4-related",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:31:15.939896+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK4 as ready",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:31:15.933341+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:31:11.159979+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK4 were changed from Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048 to Neurodevelopmental disorder, MONDO:0700092",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:30:33.856040+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.392",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene CDK4 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-09T17:30:33.683944+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDK4 was added\ngene: CDK4 was added to Microcephaly. Sources: Expert Review Amber,Victorian Clinical Genetics Services\nMode of inheritance for gene: CDK4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDK4 were set to 40210435\nPhenotypes for gene: CDK4 were set to Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:30:02.471495+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDK4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:29:52.487337+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.564",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene CDK4 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-09T17:29:51.949061+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDK4 was added\ngene: CDK4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Victorian Clinical Genetics Services\nMode of inheritance for gene: CDK4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDK4 were set to 40210435\nPhenotypes for gene: CDK4 were set to Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:29:45.513217+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK4 as Green List (high evidence)",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:29:45.505391+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk4 has been classified as Green List (High Evidence).",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:29:11.458246+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.93",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene CDK4 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-09T17:29:11.388496+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDK4 was added\ngene: CDK4 was added to Growth failure. Sources: Expert Review Amber,Victorian Clinical Genetics Services\nMode of inheritance for gene: CDK4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDK4 were set to 40210435\nPhenotypes for gene: CDK4 were set to Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:28:53.009372+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4036",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene CDK4 from panel Melanoma",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-09T17:27:59.466637+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK4 were changed from {Melanoma, cutaneous malignant, 3} MIM#609048 to Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:27:37.493309+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK4 were set to ",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:27:20.512616+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:27:06.724134+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK4 as Amber List (moderate evidence)",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:27:06.717228+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:26:48.732957+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDK4: Rating: AMBER; Mode of pathogenicity: None; Publications: 40210435; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:11:56.469782+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZFHX4 as ready",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:11:56.461873+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfhx4 has been classified as Green List (High Evidence).",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:11:54.341771+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZFHX4 were changed from intellectual disability; short stature; cleft to neurodevelopmental disorder, ZFHX4-related (MONDO:0700092)",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:11:35.208547+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZFHX4 as Green List (high evidence)",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:11:35.200835+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfhx4 has been classified as Green List (High Evidence).",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:09:57.577260+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAU2 as ready",
"entity_name": "MAU2",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:09:57.570299+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mau2 has been classified as Green List (High Evidence).",
"entity_name": "MAU2",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:09:44.460545+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAU2 as ready",
"entity_name": "MAU2",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:09:44.452294+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mau2 has been classified as Green List (High Evidence).",
"entity_name": "MAU2",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:09:34.216879+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAU2 as ready",
"entity_name": "MAU2",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:09:34.209795+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mau2 has been classified as Green List (High Evidence).",
"entity_name": "MAU2",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:09:20.858713+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAU2 as ready",
"entity_name": "MAU2",
"entity_type": "gene"
},
{
"created": "2026-01-09T17:09:20.852217+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mau2 has been classified as Green List (High Evidence).",
"entity_name": "MAU2",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:55:58.977658+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.391",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Copied gene MAU2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-09T16:55:58.804796+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.391",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: MAU2 was added\ngene: MAU2 was added to Microcephaly. Sources: Expert Review Green,Literature\nMode of inheritance for gene: MAU2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAU2 were set to 41332805; 37962004; 32433956\nPhenotypes for gene: MAU2 were set to Cornelia de Lange syndrome MONDO:0016033, MAU2-related",
"entity_name": "MAU2",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:55:20.344115+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.563",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Copied gene MAU2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-09T16:55:19.908179+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.563",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: MAU2 was added\ngene: MAU2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: MAU2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAU2 were set to 41332805; 37962004; 32433956\nPhenotypes for gene: MAU2 were set to Cornelia de Lange syndrome MONDO:0016033, MAU2-related",
"entity_name": "MAU2",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:54:38.687130+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.92",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Copied gene MAU2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-09T16:54:38.594922+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.92",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: MAU2 was added\ngene: MAU2 was added to Growth failure. Sources: Expert Review Green,Literature\nMode of inheritance for gene: MAU2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAU2 were set to 41332805; 37962004; 32433956\nPhenotypes for gene: MAU2 were set to Cornelia de Lange syndrome MONDO:0016033, MAU2-related",
"entity_name": "MAU2",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:53:36.418894+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4031",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: MAU2 as Green List (high evidence)",
"entity_name": "MAU2",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:53:36.411545+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4031",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: mau2 has been classified as Green List (High Evidence).",
"entity_name": "MAU2",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:53:20.611256+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4030",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: MAU2 was added\ngene: MAU2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MAU2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAU2 were set to 41332805; 37962004; 32433956\nPhenotypes for gene: MAU2 were set to Cornelia de Lange syndrome MONDO:0016033, MAU2-related\nReview for gene: MAU2 was set to GREEN\nAdded comment: PMID 41332805 report a total of 18 individuals from 15 unrelated families with heterozygous MAU2 variants causing Cornelia de Lange syndrome (1 of these patients was previously reported in PMID: 32433956). The main phenotypes in this cohort were short stature, microcephaly and ID, around half also had a mix of the characteristic CDLS facial features like synophrys, long smooth philtrum, thick eyebrows, thin upper lip vermilion and anteverted nares. \r\n\r\nVariants include loss‑of‑function (nonsense, frameshift, splice‑affecting) that cause haploinsufficiency, and missense/in‑frame deletions some of which were shown to disrupt NIPBL‑MAU2 interaction. Most were de novo but several were transmitted from affected parents, and for 5 cases inheritance was unknown. All but one of the missense/inframe deletion variants is absent from gnomad v4, p.Cys50Ser is present with 6 heterozygotes and may not be pathogenic. \r\n\r\nPMID: 37962004 has one additional patient with atypical Cornelia de Lange syndrome who has a de novo missense variant, absent from gnomad. \nSources: Literature",
"entity_name": "MAU2",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:32:41.895197+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SMC1B from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-09T16:32:41.813598+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMC1B was added\ngene: SMC1B was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Red,Literature\nMode of inheritance for gene: SMC1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SMC1B were set to 40180776; 27603904\nPhenotypes for gene: SMC1B were set to Infertility disorder, MONDO:0005047, SMC1B-related",
"entity_name": "SMC1B",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:32:27.632458+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMC1B as ready",
"entity_name": "SMC1B",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:32:27.625558+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc1b has been classified as Red List (Low Evidence).",
"entity_name": "SMC1B",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:32:16.708174+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMC1B was added\ngene: SMC1B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SMC1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SMC1B were set to 40180776; 27603904\nPhenotypes for gene: SMC1B were set to Infertility disorder, MONDO:0005047, SMC1B-related\nReview for gene: SMC1B was set to RED\nAdded comment: [PMID 27603904] reports 2 individuals from 2 families with heterozygous missense SMC1B variants (p.I221T, p.Q1177L) presenting with primary ovarian insufficiency. [PMID 40180776] reports 1 individual from 1 family with a heterozygous missense p.C619F variant causing severe necrozoospermia; the variant segregates from a carrier mother and functional assays show reduced SMC1B protein, indicating a loss‑of‑function mechanism. All three variants are present in the population, p.Q1177L at an implausibly high frequency. \nSources: Literature",
"entity_name": "SMC1B",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:07:44.676763+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MDN1 as ready",
"entity_name": "MDN1",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:07:44.665041+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mdn1 has been classified as Red List (Low Evidence).",
"entity_name": "MDN1",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:06:42.860766+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.336",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MDN1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-09T16:06:42.518331+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MDN1 was added\ngene: MDN1 was added to Genetic Epilepsy. Sources: Expert Review Red,Literature\nMode of inheritance for gene: MDN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MDN1 were set to 40217384\nPhenotypes for gene: MDN1 were set to Genetic epilepsy, MONDO:0100575, MDN1-related",
"entity_name": "MDN1",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:04:56.212098+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MDN1 as ready",
"entity_name": "MDN1",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:04:56.204696+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mdn1 has been classified as Red List (Low Evidence).",
"entity_name": "MDN1",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:04:41.811442+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MDN1 was added\ngene: MDN1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MDN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MDN1 were set to 40217384\nPhenotypes for gene: MDN1 were set to Genetic epilepsy, MONDO:0100575, MDN1-related\nReview for gene: MDN1 was set to RED\nAdded comment: PMID 40217384 reports 5 individuals from 5 unrelated families with biallelic missense or splice-site variants in MDN1 presenting with childhood-onset epilepsy (febrile seizures, febrile seizures plus, and focal epilepsy secondary to brain injury). Variants are rare in gnomAD with no homs. No experimental functional validation was performed and assertions of pathogenicity rely on in-silico assessment, hence RED rating. \nSources: Literature",
"entity_name": "MDN1",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:01:36.323895+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: TMEM251.",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:01:03.779234+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM251 as ready",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:01:03.772196+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem251 has been classified as Green List (High Evidence).",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:00:59.013451+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM251 as Green List (high evidence)",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:00:59.004060+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem251 has been classified as Green List (High Evidence).",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T16:00:29.829103+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM251 was added\ngene: TMEM251 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM251 were set to 40171858; 33252156\nPhenotypes for gene: TMEM251 were set to Dysostosis multiplex, Ain-Naz type MIM@619345\nReview for gene: TMEM251 was set to GREEN\nAdded comment: PMID 40171858: reports 2 siblings from an Iranian consanguineous family and six previously reported families (8 patients, 7 unrelated families) with biallelic loss‑of‑function LYSET variants presenting with MLII‑like mucolipidosis; core features include dysostosis multiplex, coarse facial features, hepatomegaly, joint contractures, developmental delay; mouse knockout recapitulates the phenotype, supporting gene‑disease causality.\r\n\r\nHGNC approved name is LYSET. \nSources: Literature",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T15:54:56.579221+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4027",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM15 were changed from Steroid resistant nephrotic syndrome; Holoprosencephaly to Multiple congenital anomalies MONDO:0019042, PRDM15-related",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2026-01-09T15:37:38.792169+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM251 as ready",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T15:37:38.785300+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem251 has been classified as Green List (High Evidence).",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T15:34:04.042633+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.560",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: LMAN2L were changed from Mental retardation, autosomal recessive, 52 OMIM #616887; Intellectual developmental disorder, autosomal dominant 69 , MIM# 617863 to Intellectual developmental disorder, autosomal dominant 69 MIM#617863; Intellectual developmental disorder, autosomal recessive 52 MIM#616887",
"entity_name": "LMAN2L",
"entity_type": "gene"
},
{
"created": "2026-01-09T15:33:28.540885+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4026",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: LMAN2L were changed from Mental retardation, autosomal recessive, 52 OMIM #616887; Intellectual developmental disorder, autosomal dominant 69 , MIM# 617863 to Intellectual developmental disorder, autosomal dominant 69 MIM#617863; Intellectual developmental disorder, autosomal recessive 52 MIM#616887",
"entity_name": "LMAN2L",
"entity_type": "gene"
}
]
}