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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=22",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=20",
"results": [
{
"created": "2026-03-12T17:32:54.586428+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JKAMP was added\ngene: JKAMP was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: JKAMP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: JKAMP were set to 41643666\nPhenotypes for gene: JKAMP were set to Neurodevelopmental disorder with seizures and impaired intellectual and language development, MIM#\t621533\nReview for gene: JKAMP was set to GREEN\nAdded comment: 14 individuals from 10 families reported. All had moderate to profound neurodevelopmental delay, intellectual disability, and infantile-onset epilepsy. Six were nonverbal, and the remaining individuals spoke only a few words. Five individuals had neurodevelopmental regression. Three individuals died suddenly; death was associated with seizures or status epilepticus in two. Thirteen individuals had hypotonia, 5 had visual impairment, 5 had microcephaly, and 1 had hearing loss. Brain MRIs showed cortical or cerebral atrophy in 11, delayed myelination in 6, and diffuse demyelinating disease in 1. \nSources: Literature",
"entity_name": "JKAMP",
"entity_type": "gene"
},
{
"created": "2026-03-12T15:58:07.975543+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4513",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Publications for gene: MDH1 were set to 31538237",
"entity_name": "MDH1",
"entity_type": "gene"
},
{
"created": "2026-03-12T15:57:20.613579+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4512",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: MDH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 40959467, 31538237; Phenotypes: Developmental and epileptic encephalopathy 88, MIM#618959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MDH1",
"entity_type": "gene"
},
{
"created": "2026-03-12T13:26:56.951955+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.607",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region LMNB1 upstream region from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-12T13:26:56.779239+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.607",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: LMNB1 upstream region was added\nRegion: LMNB1 upstream region was added to Regression. Sources: Literature\nMode of inheritance for Region: LMNB1 upstream region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: LMNB1 upstream region were set to PMID: 30842973; 30697589; 25701871\nPhenotypes for Region: LMNB1 upstream region were set to Adult-onset autosomal dominant demyelinating leukodystrophy, MONDO:0008215",
"entity_name": "LMNB1 upstream region",
"entity_type": "region"
},
{
"created": "2026-03-12T13:25:22.925611+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4512",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: LMNB1 upstream region was added\nRegion: LMNB1 upstream region was added to Mendeliome. Sources: Literature\nMode of inheritance for Region: LMNB1 upstream region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: LMNB1 upstream region were set to PMID: 30842973; 30697589; 25701871\nPhenotypes for Region: LMNB1 upstream region were set to Adult-onset autosomal dominant demyelinating leukodystrophy, MONDO:0008215\nReview for Region: LMNB1 upstream region was set to GREEN\nAdded comment: LMNB1 encodes an intermediate filament proteins which play a role in forming the nuclear lamina lining the inner nuclear membrane. Overexpression of LMNB1 via gene duplication has been well established to cause adult-onset autosomal dominant demyelinating leukodystrophy, MONDO:0008215.\r\n\r\nPMID: 30842973; 30697589; 25701871 report deletional forms of the phenotype. With an approx 167kb minimal critical region upstream of LMNB1 that has been associated with adult-onset autosomal dominant demyelinating leukodystrophy in 5 families with over 35 individuals affected. \r\n\r\nThe deletion is upstream of the promoter of LMNB1 and involves other protein coding genes (ALDH7A1/PHAX) that are thought to be bystanders. The proposed molecular mechanism of disease for these deletions is disruption of a topologically associated domain boundary resulting in overexpression of LMNB1. This occurs by placing the promoter in closer proximity to an upstream enhancer element.\r\n\r\nExtensive functional studies support this hypothesis and affected individuals have been shown to have upregulated LMNB1 protein on Western blot. \r\n\r\nNote the coordinates differ between families with much larger deletions reported in many affected individuals. \nSources: Literature",
"entity_name": "LMNB1 upstream region",
"entity_type": "region"
},
{
"created": "2026-03-12T11:58:57.307400+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4511",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: FRMD4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34869127; Phenotypes: severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, MONDO:0014787; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FRMD4A",
"entity_type": "gene"
},
{
"created": "2026-03-12T11:31:38.397153+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.301",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Added reviews for gene FAM92A from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-12T11:30:30.301487+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4511",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: FAM92A: Rating: GREEN; Mode of pathogenicity: None; Publications: 38853702; Phenotypes: Polydactyly, postaxial, type A9, MONDO:0032603; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM92A",
"entity_type": "gene"
},
{
"created": "2026-03-12T10:27:28.115228+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4511",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: TNNI1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30886088; Phenotypes: Sudden unexpected infant death, MONDO:1010116, TNNI1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNNI1",
"entity_type": "gene"
},
{
"created": "2026-03-11T18:57:29.327359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADIPOR1 were changed from Retinitis pigmentosa to Retinitis pigmentosa, MONDO:0019200, ADIPOR1-related; Hypertrophic cardiomyopathy, MONDO:0005045, ADIPOR1-related",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2026-03-11T18:57:12.968145+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADIPOR1 were set to 27655171; 26662040",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2026-03-11T18:56:53.234038+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADIPOR1: Added comment: PMID 33523960 reports five individuals from four unrelated South‑Asian families carrying heterozygous missense variants (c.470T>A p.L157H, c.436G>A p.V146M, c.433T>A p.F145I) who present with HCM; three of the five also have diabetes mellitus. All variants are absent or ultra‑rare in public databases, three are de novo events, and functional assays in rat cardiomyocytes and a Cre‑V146M transgenic mouse model show hyperactivation of p38/mTOR and/or ERK pathways, cardiomyocyte hypertrophy, metabolic dysregulation and rescue by rapamycin.; Changed publications: 27655171, 26662040, 33523960; Changed phenotypes: Retinitis pigmentosa, MONDO:0019200, ADIPOR1-related, Hypertrophic cardiomyopathy, MONDO:0005045, ADIPOR1-related",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2026-03-11T18:53:36.763170+11:00",
"panel_name": "Hypertrophic cardiomyopathy",
"panel_id": 111,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADIPOR1 as ready",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2026-03-11T18:53:36.754837+11:00",
"panel_name": "Hypertrophic cardiomyopathy",
"panel_id": 111,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adipor1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2026-03-11T18:45:46.300255+11:00",
"panel_name": "Hypertrophic cardiomyopathy",
"panel_id": 111,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADIPOR1 as Amber List (moderate evidence)",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2026-03-11T18:45:46.292701+11:00",
"panel_name": "Hypertrophic cardiomyopathy",
"panel_id": 111,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adipor1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2026-03-11T18:45:18.718977+11:00",
"panel_name": "Hypertrophic cardiomyopathy",
"panel_id": 111,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADIPOR1 was added\ngene: ADIPOR1 was added to Hypertrophic cardiomyopathy. Sources: Literature\nMode of inheritance for gene: ADIPOR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ADIPOR1 were set to 33523960\nPhenotypes for gene: ADIPOR1 were set to Hypertrophic cardiomyopathy, MONDO:0005045, ADIPOR1-related\nReview for gene: ADIPOR1 was set to AMBER\nAdded comment: The study reports five individuals from four unrelated South‑Asian families carrying heterozygous missense variants (c.470T>A p.L157H, c.436G>A p.V146M, c.433T>A p.F145I) who present with HCM; three of the five also have diabetes mellitus. All variants are absent or ultra‑rare in public databases, three are de novo events, and functional assays in rat cardiomyocytes and a Cre‑V146M transgenic mouse model show hyperactivation of p38/mTOR and/or ERK pathways, cardiomyocyte hypertrophy, metabolic dysregulation and rescue by rapamycin. \nSources: Literature",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2026-03-11T16:15:11.100500+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.52",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: CYS1 were changed from Polycystic kidney disease, MONDO:0020642 to Polycystic kidney disease MONDO:0020642, CYS1-related",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2026-03-11T16:14:47.991010+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.51",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: CYS1 were set to 34521872",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2026-03-11T16:14:20.802207+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.50",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: CYS1 as Green List (high evidence)",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2026-03-11T16:14:20.793596+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.50",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: cys1 has been classified as Green List (High Evidence).",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2026-03-11T16:06:57.118171+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.49",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Added reviews for gene CYS1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-11T16:02:36.427447+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.105",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Copied gene CYS1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-11T16:02:36.230117+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.105",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: CYS1 was added\ngene: CYS1 was added to Renal Macrocystic Disease. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CYS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYS1 were set to 41720266; 34521872\nPhenotypes for gene: CYS1 were set to Polycystic kidney disease MONDO:0020642, CYS1-related",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2026-03-11T16:00:37.919749+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4509",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: CYS1 as Green List (high evidence)",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2026-03-11T16:00:37.910761+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4509",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: cys1 has been classified as Green List (High Evidence).",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2026-03-11T16:00:19.212287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4508",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: CYS1 were changed from Polycystic kidney disease, MONDO:0020642 to Polycystic kidney disease MONDO:0020642, CYS1-related",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2026-03-11T15:58:11.845870+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4507",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: CYS1 were set to 34521872",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2026-03-11T15:51:02.027889+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4506",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: CYS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41720266, 34521872; Phenotypes: Polycystic kidney disease MONDO:0020642, CYS1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2026-03-11T11:44:25.647773+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4506",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: 5 affected individuals from 2 unrelated families with autosomal recessive biallelic loss‑of‑function FAM20B variants presenting with lethal Desbuquois‑like skeletal dysplasia (short limbs, joint dislocations, craniofacial anomalies, intra‑uterine or neonatal death). \r\n\r\nGene upgraded to green in combination with previous reports of affected individuals and functional reports.; to: 5 affected individuals from 2 unrelated families with autosomal recessive biallelic loss‑of‑function FAM20B variants presenting with lethal Desbuquois‑like skeletal dysplasia (short limbs, joint dislocations, craniofacial anomalies, intra‑uterine or neonatal death). \r\n\r\nGene to remain as AMBER due to the potential overlap in families between the publications.",
"entity_name": "FAM20B",
"entity_type": "gene"
},
{
"created": "2026-03-11T11:26:33.747286+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.238",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Added reviews for gene RCAN1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-11T11:24:41.592773+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.237",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: RCAN1 were changed from FSGS; proteinuria to Focal segmental glomerulosclerosis MONDO:0100313, RCAN1-related",
"entity_name": "RCAN1",
"entity_type": "gene"
},
{
"created": "2026-03-11T11:23:39.047587+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4506",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: RCAN1 were changed from FSGS; proteinuria to Focal segmental glomerulosclerosis MONDO:0100313, RCAN1-related",
"entity_name": "RCAN1",
"entity_type": "gene"
},
{
"created": "2026-03-11T11:23:21.449192+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4505",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "edited their review of gene: RCAN1: Added comment: PMID: 33863784 both missense reported in this paper are present in gnomad, 1 with over 100 hets the other with over 1000. this gene is borderline red; Changed rating: AMBER; Changed publications: 33863784; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RCAN1",
"entity_type": "gene"
},
{
"created": "2026-03-11T09:51:39.090944+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DISC1 were changed from {Schizophrenia 9, susceptibility to} MIM#604906 to {Schizophrenia 9, susceptibility to} MIM#604906; Corpus callosum agenesis, MONDO:0009022, DISC1-related",
"entity_name": "DISC1",
"entity_type": "gene"
},
{
"created": "2026-03-11T09:50:55.195488+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DISC1 were set to 18945897",
"entity_name": "DISC1",
"entity_type": "gene"
},
{
"created": "2026-03-11T09:49:50.943252+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DISC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DISC1",
"entity_type": "gene"
},
{
"created": "2026-03-11T09:49:31.728770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DISC1: Rating: RED; Mode of pathogenicity: None; Publications: 21739582; Phenotypes: Corpus callosum agenesis, MONDO:0009022, DISC1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DISC1",
"entity_type": "gene"
},
{
"created": "2026-03-11T09:49:02.249380+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DISC1 as ready",
"entity_name": "DISC1",
"entity_type": "gene"
},
{
"created": "2026-03-11T09:49:02.236801+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: disc1 has been classified as Red List (Low Evidence).",
"entity_name": "DISC1",
"entity_type": "gene"
},
{
"created": "2026-03-11T09:48:39.847761+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DISC1 were changed from to Corpus callosum agenesis, MONDO:0009022, DISC1-related",
"entity_name": "DISC1",
"entity_type": "gene"
},
{
"created": "2026-03-11T09:47:54.586433+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DISC1 were set to ",
"entity_name": "DISC1",
"entity_type": "gene"
},
{
"created": "2026-03-11T09:47:25.083390+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DISC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DISC1",
"entity_type": "gene"
},
{
"created": "2026-03-11T09:47:04.906801+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DISC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DISC1",
"entity_type": "gene"
},
{
"created": "2026-03-11T09:45:43.225266+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DISC1 as Red List (low evidence)",
"entity_name": "DISC1",
"entity_type": "gene"
},
{
"created": "2026-03-11T09:45:43.201939+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: disc1 has been classified as Red List (Low Evidence).",
"entity_name": "DISC1",
"entity_type": "gene"
},
{
"created": "2026-03-11T09:45:14.968044+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DISC1: Rating: RED; Mode of pathogenicity: None; Publications: 21739582; Phenotypes: Corpus callosum agenesis, MONDO:0009022, DISC1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DISC1",
"entity_type": "gene"
},
{
"created": "2026-03-10T09:34:11.422840+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DST were changed from congenital myopathy MONDO:0019952, DST-related to Congenital myopathy 29 with contractures, MIM# 621510; Lethal congenital contracture syndrome 12, MIM# 621511",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2026-03-10T09:33:36.914020+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myopathy 29 with contractures, MIM# 621510, Lethal congenital contracture syndrome 12, MIM# 621511; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2026-03-10T09:32:45.433152+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DST were changed from Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653; Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425; congenital myopathy MONDO:0019952, DST-related to Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653; Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425; Congenital myopathy 29 with contractures, MIM# 621510; Lethal congenital contracture syndrome 12, MIM# 621511",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2026-03-10T09:32:03.734801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DST: Added comment: The milder disorder is caused by variants that disrupt the DST-b isoform, while variants that affect both the DST-b and neuronal DST-a isoforms cause lethal congenital contracture syndrome.; Changed phenotypes: Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653, Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425, Congenital myopathy 29 with contractures, MIM# 621510, Lethal congenital contracture syndrome 12, MIM# 621511",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2026-03-10T09:31:10.458146+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DST were changed from congenital myopathy MONDO:0019952, DST-related to Congenital myopathy 29 with contractures, MIM# 621510; Lethal congenital contracture syndrome 12, MIM# 621511",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2026-03-10T09:27:18.347920+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myopathy 29 with contractures, MIM# 621510, Lethal congenital contracture syndrome 12, MIM# 621511; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2026-03-09T16:58:21.135323+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.51",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Phenotypes for gene: AKT2 were changed from Hypoinsulinemic hypoglycemia with hemihypertrophy\tMIM#240900 to Hypoinsulinemic hypoglycemia and body hemihypertrophy - MONDO:0009416",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2026-03-09T16:58:02.246179+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.51",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: AKT2 were set to 21979934; 35602880; 24285683",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2026-03-09T16:57:16.412445+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.50",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: AKT2 as Green List (high evidence)",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2026-03-09T16:57:16.397981+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.50",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: akt2 has been classified as Green List (High Evidence).",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2026-03-09T16:56:39.075937+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.49",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMIDs: 24285683, 26003998, 35602880, 38344362; Phenotypes: Hypoinsulinemic hypoglycemia and body hemihypertrophy - MONDO:0009416; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2026-03-08T22:20:35.408998+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.109",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: TUFT1 were set to 36689522",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2026-03-08T22:20:27.773721+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.144",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: TUFT1 were set to 36689522",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2026-03-08T22:20:26.402111+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.108",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: TUFT1 as Green List (high evidence)",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2026-03-08T22:20:26.381169+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.108",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tuft1 has been classified as Green List (High Evidence).",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2026-03-08T22:20:09.480487+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.144",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: TUFT1 as ready",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2026-03-08T22:20:09.468810+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.144",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tuft1 has been classified as Green List (High Evidence).",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2026-03-08T22:20:08.769323+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.144",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: TUFT1 as Green List (high evidence)",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2026-03-08T22:20:08.754547+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.144",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tuft1 has been classified as Green List (High Evidence).",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2026-03-08T22:19:47.942888+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.27",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: TUFT1 were set to 36689522; 36928819",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2026-03-08T22:19:38.561422+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.143",
"user_name": "Krithika Murali",
"item_type": "panel",
"text": "Added reviews for gene TUFT1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-08T22:19:35.797147+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.26",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: TUFT1 as ready",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2026-03-08T22:19:35.784541+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.26",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tuft1 has been classified as Green List (High Evidence).",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2026-03-08T22:19:30.428130+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.26",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: TUFT1 as Green List (high evidence)",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2026-03-08T22:19:30.416621+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.26",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tuft1 has been classified as Green List (High Evidence).",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2026-03-08T22:18:47.788300+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.142",
"user_name": "Krithika Murali",
"item_type": "panel",
"text": "Copied gene TUFT1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-08T22:18:47.628244+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.142",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TUFT1 was added\ngene: TUFT1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: TUFT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUFT1 were set to 36689522\nPhenotypes for gene: TUFT1 were set to Woolly hair-skin fragility syndrome, MIM# 620415",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2026-03-08T22:18:13.534786+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4501",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: TUFT1 were set to 36689522",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2026-03-08T22:18:08.950257+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.25",
"user_name": "Krithika Murali",
"item_type": "panel",
"text": "Added reviews for gene TUFT1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-08T22:17:58.829493+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4500",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: TUFT1 as Green List (high evidence)",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2026-03-08T22:17:58.818426+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4500",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tuft1 has been classified as Green List (High Evidence).",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2026-03-08T22:17:30.635291+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.107",
"user_name": "Krithika Murali",
"item_type": "panel",
"text": "Added reviews for gene TUFT1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-08T22:16:40.184667+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4499",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: TUFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37716648, 36689526, 36689522; Phenotypes: Woolly hair-skin fragility syndrome - MIM#620415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2026-03-06T16:39:11.257757+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.689",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: RBFOX3 as Red List (low evidence)",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2026-03-06T16:39:11.243944+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.689",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: rbfox3 has been classified as Red List (Low Evidence).",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2026-03-06T16:38:48.631366+11:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.28",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Added reviews for gene RBFOX3 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-06T16:38:48.474760+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.382",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Added reviews for gene RBFOX3 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-06T16:37:59.945778+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.688",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Copied gene RBFOX3 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-06T16:37:58.895595+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.688",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: RBFOX3 was added\ngene: RBFOX3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: RBFOX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RBFOX3 were set to 35951651; 36117209; 24039908; 40011789\nPhenotypes for gene: RBFOX3 were set to Neurodevelopmental disorder (MONDO:0700092), RBFOX3-related",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2026-03-06T16:36:56.882011+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4499",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: RBFOX3 were set to 35951651; 36117209; 24039908",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2026-03-06T16:36:33.911930+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4498",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RBFOX3: Rating: AMBER; Mode of pathogenicity: None; Publications: 40011789, 36117209; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), RBFOX3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2026-03-06T16:23:48.857002+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.186",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRPH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRPH",
"entity_type": "gene"
},
{
"created": "2026-03-06T16:23:30.560005+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.185",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: PRPH were changed from {Amyotrophic lateral sclerosis, susceptibility to} MIM#105400; Hereditary motor and sensory neuropathy MONDO:0015358, PRPH-related to Hereditary motor and sensory neuropathy MONDO:0015358, PRPH-related",
"entity_name": "PRPH",
"entity_type": "gene"
},
{
"created": "2026-03-06T16:20:09.481905+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.44",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Added reviews for gene PRPH from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-06T16:19:15.286375+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.184",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Copied gene PRPH from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-06T16:19:15.103356+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.184",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: PRPH was added\ngene: PRPH was added to Hereditary Neuropathy. Sources: Expert Review Amber,Victorian Clinical Genetics Services\nMode of inheritance for gene: PRPH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PRPH were set to 20363051; 15322088; 15446584; 30992453; 32638105\nPhenotypes for gene: PRPH were set to {Amyotrophic lateral sclerosis, susceptibility to} MIM#105400; Hereditary motor and sensory neuropathy MONDO:0015358, PRPH-related",
"entity_name": "PRPH",
"entity_type": "gene"
},
{
"created": "2026-03-06T16:18:03.038856+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4498",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: PRPH were set to 20363051; 15322088; 15446584",
"entity_name": "PRPH",
"entity_type": "gene"
},
{
"created": "2026-03-06T16:16:41.598071+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4497",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: PRPH were changed from {Amyotrophic lateral sclerosis, susceptibility to}, 105400 to {Amyotrophic lateral sclerosis, susceptibility to} MIM#105400; Hereditary motor and sensory neuropathy MONDO:0015358, PRPH-related",
"entity_name": "PRPH",
"entity_type": "gene"
},
{
"created": "2026-03-06T16:16:05.644790+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.242",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: PRPF6 were set to 21549338; 32335390",
"entity_name": "PRPF6",
"entity_type": "gene"
},
{
"created": "2026-03-06T16:15:56.628407+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.241",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: PRPF6 as Green List (high evidence)",
"entity_name": "PRPF6",
"entity_type": "gene"
},
{
"created": "2026-03-06T16:15:56.617555+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.241",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: prpf6 has been classified as Green List (High Evidence).",
"entity_name": "PRPF6",
"entity_type": "gene"
},
{
"created": "2026-03-06T16:15:25.363043+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4496",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PRPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 30992453, 32638105; Phenotypes: {Amyotrophic lateral sclerosis, susceptibility to} MIM#105400, Hereditary motor and sensory neuropathy MONDO:0015358, PRPH-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PRPH",
"entity_type": "gene"
}
]
}