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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=168",
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"results": [
{
"created": "2025-09-17T06:30:16.967356+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC8 were changed from Diabetes mellitus, noninsulin-dependent MIM#125853 Diabetes mellitus, permanent neonatal 3 MIM# 618857\tAD, AR\t Diabetes mellitus, transient neonatal 2\tMIM#610374 Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450 AD, AR Hypoglycemia of infancy, leucine-sensitive MIM#240800\tAD Maturity-onset diabetes of the young, type 12\tMIM#621196\tAD to Diabetes mellitus, permanent neonatal 3 MIM# 618857",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2025-09-17T06:30:03.148487+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCC8 as Amber List (moderate evidence)",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2025-09-17T06:30:03.138038+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2025-09-17T06:29:54.269787+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCC8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, permanent neonatal 3 MIM# 618857; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2025-09-16T21:00:47.637466+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.9",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: ABCC8 was added\ngene: ABCC8 was added to Genomic newborn screening: ICoNS. Sources: Expert list\nMode of inheritance for gene: ABCC8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ABCC8 were set to PMID: 20301620; 32027066; 20922570; 16885549\nPhenotypes for gene: ABCC8 were set to Diabetes mellitus, noninsulin-dependent MIM#125853 Diabetes mellitus, permanent neonatal 3 MIM# 618857\tAD, AR\t Diabetes mellitus, transient neonatal 2\tMIM#610374 Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450 AD, AR Hypoglycemia of infancy, leucine-sensitive MIM#240800\tAD Maturity-onset diabetes of the young, type 12\tMIM#621196\tAD\nReview for gene: ABCC8 was set to GREEN\nAdded comment: Gene-disease association: \r\nCurated by ClinGen: definitive for monogenic diabetes \r\nModerate for pulmonary hypertension. \r\n\r\nLOF heterozygous variants cause hyperinsulinism and neonatal hypoglycemia. requires a paternal pathogenic variant and a somatic second hit on the maternal allele. There is no phenotype for an isolated maternal pathogenic variant. \r\n\r\nGoF missense variants cause neonatal diabetes mellitus: Clinical manifestations at diagnosis include intrauterine growth restriction (IUGR; a reflection of insulin deficiency in utero), hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and poor weight gain.: KATP channel unable to close in response to ATP, impairing insulin secretion\r\n\r\nNon-molecular confirmatory testing: yes\r\nFor hyperinsulinaemic hypoglycaemia: glucose, insulin, free fatty acid levels\r\nFor neonatal diabetes: glucose tolerance test, hemoglobin A1C, insulin level, glucose level\r\n\r\nNB Ashkenazi founder variants: NP_000343.2:p.Phe1387del or NM_000352.6:c.3989-9G>A.\r\nFinnish founder variants NP_000343.2:p.Val187Asp or NP_000343.2:p.Glu1506Lys.\r\n\r\nTreatment: as per rx-genes\r\nFor hyperinsulinaemic hypoglycaemia: Diazoxide, somatostatin analogs, nifedipine, glucagon, IGF-1, glucocorticoids, growth hormone, pancreatic resection, mTOR inhibitors, GLP-1 receptor antagonists, sirolimus\r\n\r\nFor neonatal diabetes: Insulin, glibenclamide (Sulfonylurea), oral pancreatic enzymes, \r\n\r\nNot included by GUARDIAN ?reason ?variable phenotypes, some are adult onset, would need to make variant level decisions on reporting \r\n\r\nVariable expression - variants can be inherited and cause T2DM in a parent\r\n\r\nNot included in newborn screening currently \nSources: Expert list",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2025-09-16T12:58:17.230123+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.8",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: TCN2 as ready",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2025-09-16T12:58:17.223887+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.8",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: tcn2 has been classified as Green List (High Evidence).",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2025-09-16T12:58:07.979190+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.8",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Classified gene: TCN2 as Green List (high evidence)",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2025-09-16T12:58:07.974519+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.8",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Not on BabySeq 1 list, on other pilots. \r\nDetectable on TMS but ?not in standard NBS",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2025-09-16T12:58:07.937967+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.8",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: tcn2 has been classified as Green List (High Evidence).",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2025-09-13T07:04:50.336860+10:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NTN1 as Amber List (moderate evidence)",
"entity_name": "NTN1",
"entity_type": "gene"
},
{
"created": "2025-09-13T07:04:50.329841+10:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NTN1",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:47:37.608905+10:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JAG1 as ready",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:47:37.602164+10:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jag1 has been classified as Green List (High Evidence).",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:47:35.088538+10:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JAG1 were changed from Alagille syndrome 1 to Alagille syndrome, MIM#118450",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:46:48.747823+10:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JAG1 as Green List (high evidence)",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:46:48.738634+10:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jag1 has been classified as Green List (High Evidence).",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:45:19.262290+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPC4AP as ready",
"entity_name": "TRPC4AP",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:45:19.255398+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpc4ap has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRPC4AP",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:45:08.636894+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRPC4AP as Amber List (moderate evidence)",
"entity_name": "TRPC4AP",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:45:08.626223+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpc4ap has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRPC4AP",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:44:54.214563+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPC4AP was added\ngene: TRPC4AP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TRPC4AP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPC4AP were set to 32428920; 26786105\nPhenotypes for gene: TRPC4AP were set to Thyroid hypoplasia, MONDO:0019861, TRPC4AP-related\nReview for gene: TRPC4AP was set to AMBER\nAdded comment: De novo LoF TRPC4AP variant identified on WES in a child with thyroid dyshormonogenesis.\r\n179 patients with CHTD sequenced using a panel of target genes identifying four variants in TRPC4AP. During development, Choukair et al. showed that Trpc4ap is expressed in the brain, the thyroid bud, and the kidney of the African clawed frog (Xenopus laevis). This team showed that disabling Trpc4ap in the African clawed frog leads to thyroid hypoplasia during development. It was also shown that TRPC4AP interacted with IKBKG which activates the NF-κB signaling pathway and regulates the genes involved in the growth and survival of thyrocytes. Furthermore, the NF-kB would control the expression of NKX2-1, PAX8, TPO, NIS, and TG.18 The authors conclude that TRPC4AP would be a new candidate gene for TDs. Insufficient clinical cases for green. Candidate gene. \nSources: Literature",
"entity_name": "TRPC4AP",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:43:10.787788+10:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPC4AP as ready",
"entity_name": "TRPC4AP",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:43:10.775864+10:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpc4ap has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRPC4AP",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:43:08.519579+10:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPC4AP were changed from Thyroid hypoplasia to Thyroid hypoplasia, MONDO:0019861, TRPC4AP-related",
"entity_name": "TRPC4AP",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:42:25.110837+10:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRPC4AP as Amber List (moderate evidence)",
"entity_name": "TRPC4AP",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:42:25.103950+10:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpc4ap has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRPC4AP",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:42:16.189337+10:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRPC4AP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPC4AP",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:19:25.158374+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMB1 were changed from Intellectual disability; microcephaly to Neurodevelopmental disorder MONDO:0700092, PSMB1-related",
"entity_name": "PSMB1",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:18:57.648201+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSMB1: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, PSMB1-related",
"entity_name": "PSMB1",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:18:37.069829+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMB1 were changed from Intellectual disability; microcephaly to Neurodevelopmental disorder MONDO:0700092, PSMB1-related",
"entity_name": "PSMB1",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:16:32.916071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSAT1 were changed from Phosphoserine aminotransferase deficiency 610992; Neu-Laxova syndrome 2 616038 to Neurometabolic disorder due to serine deficiency MONDO:0018162, PSAT1-related",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:15:01.125018+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRX were changed from Charcot-Marie-Tooth disease, type 4F, MIM# 614895; Dejerine-Sottas disease, MIM# 145900 to Charcot-Marie-Tooth disease type 4 MONDO:0018995",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:14:18.454119+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRRT2 were changed from Convulsions, familial infantile, with paroxysmal choreoathetosis 602066; Episodic kinesigenic dyskinesia 1 128200; Seizures, benign familial infantile, 2 605751 to PRRT2-associated paroxysmal movement disorder MONDO:0100556",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:13:51.522267+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRRT2: Changed phenotypes: PRRT2-associated paroxysmal movement disorder MONDO:0100556",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:13:23.818659+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRRT2 were changed from Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Episodic kinesigenic dyskinesia 1, 128200; Seizures, benign familial infantile, 2, 605751 to PRRT2-associated paroxysmal movement disorder MONDO:0100556",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:12:36.368315+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRRT2 were changed from Episodic kinesigenic dyskinesia 1 MIM#128200; Convulsions, familial infantile, with paroxysmal choreoathetosis MIM#602066; Seizures, benign familial infantile, 2 MIM#605751 to PRRT2-associated paroxysmal movement disorder MONDO:0100556",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:12:17.078988+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRRT2: Changed phenotypes: PRRT2-associated paroxysmal movement disorder MONDO:0100556",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:10:37.861981+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRRT2 were changed from Convulsions, familial infantile, with paroxysmal choreoathetosis 602066; Episodic kinesigenic dyskinesia 1 128200; Seizures, benign familial infantile, 2 605751 to PRRT2-associated paroxysmal movement disorder MONDO:0100556",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:10:02.012881+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRRT2: Changed phenotypes: PRRT2-associated paroxysmal movement disorder MONDO:0100556",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:09:29.775652+10:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRRT2 were changed from Convulsions, familial infantile, with paroxysmal choreoathetosis 602066; Episodic kinesigenic dyskinesia 1 128200; Seizures, benign familial infantile, 2 605751 to PRRT2-associated paroxysmal movement disorder MONDO:0100556",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:09:03.786637+10:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRRT2: Changed phenotypes: PRRT2-associated paroxysmal movement disorder MONDO:0100556",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:08:43.041497+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRRT2 were changed from Convulsions, familial infantile, with paroxysmal choreoathetosis 602066; Episodic kinesigenic dyskinesia 1 128200; Seizures, benign familial infantile, 2 605751 to PRRT2-associated paroxysmal movement disorder MONDO:0100556",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:07:37.477052+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRPS1 were changed from Deafness, X-linked 1, MIM# 304500; Charcot-Marie-Tooth disease, X-linked recessive, 5, MIM# 311070; Arts syndrome, MIM# 301835 to PRPS1 deficiency disorder MONDO:0100061",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:07:14.644471+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRPS1: Changed phenotypes: PRPS1 deficiency disorder MONDO:0100061",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:06:49.744300+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRPS1 were changed from Arts syndrome MIM#301835; Charcot-Marie-Tooth disease, X-linked recessive, 5 MIM#311070; Deafness, X-linked 1 MIM#304500; Gout, PRPS-related MIM#300661; Phosphoribosylpyrophosphate synthetase superactivity MIM#300661 to PRPS1 deficiency disorder MONDO:0100061; Phosphoribosylpyrophosphate synthetase superactivity MIM#300661",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:05:43.444477+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRPH2 as ready",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:05:43.437653+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prph2 has been classified as Green List (High Evidence).",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:05:40.367735+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRPH2 were changed from Leber congenital amaurosis 18, MIM#608133; Macular dystrophy, vitelliform, 3, MIM#608161; Retinitis pigmentosa 7 and digenic form, MIM#608133; Choroidal dystrophy, central areolar 2, MIM#613105; Macular dystrophy, patterned, 1, MIM#169150; Retinitis punctata albescens, MIM#136880 to PRPH2-related retinopathy MONDO:1040055",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:05:31.851169+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRPH2 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": "PRPH2",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:05:22.803095+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PRPH2-related retinopathy MONDO:1040055; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:04:35.653983+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRPH2 were changed from Leber congenital amaurosis 18, MIM#608133; Macular dystrophy, vitelliform, 3, MIM#608161; Retinitis pigmentosa 7 and digenic form, MIM#608133; Choroidal dystrophy, central areolar 2, MIM#613105; Macular dystrophy, patterned, 1, MIM#169150; Retinitis punctata albescens, MIM#136880 to PRPH2-related retinopathy MONDO:1040055",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:03:15.078829+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PROM1 were changed from Inherited retinal dystrophy, MONDO:0019118; Cone-rod dystrophy 12, MIM# 612657; Macular dystrophy, retinal, 2, MI# 608051; Retinitis pigmentosa 41, MIM# 612095; Stargardt disease 4, MIM# 603786 to PROM1-related dominant retinopathy MONDO:1040053; Cone-rod dystrophy 12, MIM# 612657; Retinitis pigmentosa 41, MIM# 612095",
"entity_name": "PROM1",
"entity_type": "gene"
},
{
"created": "2025-09-12T18:01:40.232274+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKAG3 were changed from increased glycogen content in skeletal muscle to Skeletal muscle glycogen content and metabolism QTL MIM#619030",
"entity_name": "PRKAG3",
"entity_type": "gene"
},
{
"created": "2025-09-12T16:59:49.657061+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3088",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PSMB1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder MONDO:0700092, PSMB1-related; Mode of inheritance: None",
"entity_name": "PSMB1",
"entity_type": "gene"
},
{
"created": "2025-09-12T16:57:44.158582+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3088",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PSAT1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurometabolic disorder due to serine deficiency MONDO:0018162, PSAT1-related; Mode of inheritance: None",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2025-09-12T16:46:04.931274+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3088",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PRX: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease type 4 MONDO:0018995; Mode of inheritance: None",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2025-09-12T16:39:31.953614+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3088",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PRRT2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: PRRT2-associated paroxysmal movement disorder MONDO:0100556; Mode of inheritance: None",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2025-09-12T16:34:15.614457+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3088",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PRPS1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: PRPS1 deficiency disorder MONDO:0100061; Mode of inheritance: None",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2025-09-12T16:26:53.478879+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3088",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PRPH2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: PRPH2-related retinopathy MONDO:1040055; Mode of inheritance: None",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2025-09-12T16:15:00.596244+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3088",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PROM1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: PROM1-related dominant retinopathy MONDO:1040053; Mode of inheritance: None",
"entity_name": "PROM1",
"entity_type": "gene"
},
{
"created": "2025-09-12T15:35:30.210505+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3088",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PRKAG3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal muscle glycogen content and metabolism QTL MIM#619030; Mode of inheritance: None",
"entity_name": "PRKAG3",
"entity_type": "gene"
},
{
"created": "2025-09-12T15:21:39.476972+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDX3 were changed from Cerebellar ataxia (early onset, mild to moderate, progressive) to Cerebellar ataxia MONDO:0000437, PRDX3-related",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2025-09-12T15:21:24.933776+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2025-09-12T15:21:20.489506+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRDX3: Changed phenotypes: Cerebellar ataxia MONDO:0000437, PRDX3-related",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2025-09-12T15:20:26.223035+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2025-09-12T15:20:14.077471+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDX3 were changed from Cerebellar ataxia (early onset, mild to moderate, progressive) to Cerebellar ataxia MONDO:0000437, PRDX3-related",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2025-09-12T15:19:46.400279+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRDX3: Changed phenotypes: Cerebellar ataxia MONDO:0000437, PRDX3-related",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2025-09-12T15:19:30.416984+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDX3 were changed from cerebellar ataxia (early onset, mild to moderate, progressive) to Cerebellar ataxia MONDO:0000437, PRDX3-related",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2025-09-12T14:27:57.749922+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3087",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PRDX3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar ataxia MONDO:0000437, PRDX3-related; Mode of inheritance: None",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2025-09-12T14:03:41.164573+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEY2 were changed from congenital heart disease MONDO:0005453; thoracic aortic aneurysms to Congenital heart disease, MONDO:0005453, HEY2-related; thoracic aortic aneurysms",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2025-09-12T14:03:22.655909+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HEY2 were set to 32820247",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2025-09-12T14:02:18.665851+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2025-09-12T14:02:13.062351+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: HEY2: Further family reported segregating a missense variant and Tetralogy of Fallot.",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2025-09-12T14:02:12.136154+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HEY2: Added comment: Further family reported segregating a missense variant and Tetralogy of Fallot.; Changed publications: 32820247, 40481234; Changed phenotypes: Congenital heart disease, MONDO:0005453, HEY2-related",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2025-09-12T14:01:31.936814+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEY2 were changed from congenital heart defects and thoracic aortic aneurysms to Congenital heart disease, MONDO:0005453, HEY2-related",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2025-09-12T14:01:10.764388+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HEY2 were set to PMID: 32820247",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2025-09-12T14:00:45.734782+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HEY2: Rating: RED; Mode of pathogenicity: None; Publications: 40481234; Phenotypes: Congenital heart disease, MONDO:0005453, HEY2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:54:53.921840+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENPP5 as ready",
"entity_name": "ENPP5",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:54:53.914823+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: enpp5 has been classified as Red List (Low Evidence).",
"entity_name": "ENPP5",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:54:46.246481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ENPP5 was added\ngene: ENPP5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ENPP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ENPP5 were set to 40457511\nPhenotypes for gene: ENPP5 were set to Skeletal dysplasia, MONDO:0018230, ENPP5-related\nReview for gene: ENPP5 was set to RED\nAdded comment: Single affected individual reported distinct oro-dental phenotype including premaxillary and gingival overgrowth and hypercementosis and a homozygous missense variant p.Gly58Val, affecting a conserved glycine residue predicted to be within a putative active binding site of the ENPP5 protein. In mice, RNA-seq and immunofluorescence confirmed Enpp5 expression in functional osteoblasts of the maxilla and mandible, periodontal ligament, odontoblasts, and ameloblasts. \nSources: Literature",
"entity_name": "ENPP5",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:53:09.721212+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENPP5 as ready",
"entity_name": "ENPP5",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:53:09.711806+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: enpp5 has been classified as Red List (Low Evidence).",
"entity_name": "ENPP5",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:52:56.805009+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ENPP5 was added\ngene: ENPP5 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: ENPP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ENPP5 were set to 40457511\nPhenotypes for gene: ENPP5 were set to Skeletal dysplasia, MONDO:0018230, ENPP5-related\nReview for gene: ENPP5 was set to RED\nAdded comment: Single affected individual reported distinct oro-dental phenotype including premaxillary and gingival overgrowth and hypercementosis and a homozygous missense variant p.Gly58Val, affecting a conserved glycine residue predicted to be within a putative active binding site of the ENPP5 protein. In mice, RNA-seq and immunofluorescence confirmed Enpp5 expression in functional osteoblasts of the maxilla and mandible, periodontal ligament, odontoblasts, and ameloblasts. \nSources: Literature",
"entity_name": "ENPP5",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:49:29.053183+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AXDND1 as ready",
"entity_name": "AXDND1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:49:29.046255+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: axdnd1 has been classified as Red List (Low Evidence).",
"entity_name": "AXDND1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:49:20.126768+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AXDND1 was added\ngene: AXDND1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AXDND1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AXDND1 were set to 40457935\nPhenotypes for gene: AXDND1 were set to Spermatogenic failure, MONDO:0004983, AXDND1-related\nReview for gene: AXDND1 was set to RED\nAdded comment: Single family reported with bi-allelic LoF variant. \nSources: Literature",
"entity_name": "AXDND1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:47:43.963268+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AXDND1 as ready",
"entity_name": "AXDND1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:47:43.955805+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: axdnd1 has been classified as Red List (Low Evidence).",
"entity_name": "AXDND1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:47:38.993644+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AXDND1 was added\ngene: AXDND1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: AXDND1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AXDND1 were set to 40457935\nPhenotypes for gene: AXDND1 were set to Spermatogenic failure, MONDO:0004983, AXDND1-related\nReview for gene: AXDND1 was set to RED\nAdded comment: Single family reported with bi-allelic LoF variant. \nSources: Literature",
"entity_name": "AXDND1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:44:22.200030+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDF1 as ready",
"entity_name": "KDF1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:44:22.192945+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdf1 has been classified as Green List (High Evidence).",
"entity_name": "KDF1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:44:11.848395+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDF1 as Green List (high evidence)",
"entity_name": "KDF1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:44:11.837015+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdf1 has been classified as Green List (High Evidence).",
"entity_name": "KDF1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:43:55.477974+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDF1 was added\ngene: KDF1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KDF1 were set to 27838789; 40463401; 38501196\nPhenotypes for gene: KDF1 were set to Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, MIM# 617337\nReview for gene: KDF1 was set to GREEN\nAdded comment: Three families reported. \nSources: Literature",
"entity_name": "KDF1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:43:27.380667+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDF1 as ready",
"entity_name": "KDF1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:43:27.369643+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdf1 has been classified as Green List (High Evidence).",
"entity_name": "KDF1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:43:24.382700+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDF1 were changed from ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type to Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, MIM# 617337",
"entity_name": "KDF1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:43:11.612660+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27838789, 40463401, 38501196; Phenotypes: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, MIM# 617337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDF1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:38:12.308717+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNA4 as ready",
"entity_name": "KCNA4",
"entity_type": "gene"
}
]
}