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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=184",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=182",
"results": [
{
"created": "2025-08-29T16:46:38.946089+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA4 were changed from to Mitochondrial disease (MONDO:0044970), PNPLA4-related",
"entity_name": "PNPLA4",
"entity_type": "gene"
},
{
"created": "2025-08-29T16:46:05.158749+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PNPLA4: Changed phenotypes: Mitochondrial disease (MONDO:0044970), PNPLA4-related",
"entity_name": "PNPLA4",
"entity_type": "gene"
},
{
"created": "2025-08-29T16:45:34.167572+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA4 were changed from to Mitochondrial disease (MONDO:0044970), PNPLA4-related",
"entity_name": "PNPLA4",
"entity_type": "gene"
},
{
"created": "2025-08-29T16:44:47.075389+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA3 were changed from Susceptibility to nonalcoholic fatty liver disease to Metabolic dysfunction-associated steatotic liver disease MONDO:0013209, PNPLA3-related",
"entity_name": "PNPLA3",
"entity_type": "gene"
},
{
"created": "2025-08-29T16:31:30.352972+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2883",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: POLE2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined immunodeficiency MONDO:0015131, POLE2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLE2",
"entity_type": "gene"
},
{
"created": "2025-08-29T15:12:12.718620+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2883",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155, Spastic paraplegia 39, autosomal recessive MIM#612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2025-08-29T15:02:46.890454+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2883",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PNPLA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disease (MONDO:0044970), PNPLA4-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PNPLA4",
"entity_type": "gene"
},
{
"created": "2025-08-29T14:57:11.939934+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2883",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PNPLA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Metabolic dysfunction-associated steatotic liver disease MONDO:0013209, PNPLA3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PNPLA3",
"entity_type": "gene"
},
{
"created": "2025-08-29T13:47:20.928336+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM173 as ready",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2025-08-29T13:47:20.923011+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: HGNC approved name is STING1",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2025-08-29T13:47:20.892831+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem173 has been classified as Green List (High Evidence).",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2025-08-29T13:46:58.586232+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: TMEM173.",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2025-08-29T12:11:34.762027+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2883",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: Adding HIPKD MONDO term specific for this gene; to: Adding HIPKD MONDO term specific for this gene",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2025-08-29T12:09:20.454549+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2883",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinaemic Hypoglycaemia with polycystic kidney disease MONDO:1030000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2025-08-29T12:04:15.603323+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2883",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PMFBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 31 MIM#618112; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMFBP1",
"entity_type": "gene"
},
{
"created": "2025-08-29T11:52:58.697280+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2883",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PLXNC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral cortical dysplasia MONDO:0017094, PLXNC1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PLXNC1",
"entity_type": "gene"
},
{
"created": "2025-08-29T10:00:20.647957+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2883",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PLXNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism, MONDO:0018555, PLXNA3-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PLXNA3",
"entity_type": "gene"
},
{
"created": "2025-08-28T18:23:44.130010+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TIMM22 were changed from hypotonia; gastroesophageal reflux disease to Mitochondrial disease, MONDO:0044970, TIMM22-related",
"entity_name": "TIMM22",
"entity_type": "gene"
},
{
"created": "2025-08-28T18:23:16.245829+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TIMM22: Changed phenotypes: Mitochondrial disease, MONDO:0044970, TIMM22-related",
"entity_name": "TIMM22",
"entity_type": "gene"
},
{
"created": "2025-08-28T18:23:00.271131+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TIMM22 were changed from mitochondrial myopathy; hypotonia; gastroesophageal reflux disease to Mitochondrial disease, MONDO:0044970, TIMM22-related",
"entity_name": "TIMM22",
"entity_type": "gene"
},
{
"created": "2025-08-28T18:22:37.923301+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TIMM22: Changed phenotypes: Mitochondrial disease, MONDO:0044970, TIMM22-related",
"entity_name": "TIMM22",
"entity_type": "gene"
},
{
"created": "2025-08-28T17:29:23.567393+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THOC1 were changed from Nonsyndromic hearing loss to Hearing loss disorder, MONDO:0005365, THOC1-related",
"entity_name": "THOC1",
"entity_type": "gene"
},
{
"created": "2025-08-28T17:29:07.953828+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: THOC1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hearing loss disorder, MONDO:0005365, THOC1-related; Mode of inheritance: None",
"entity_name": "THOC1",
"entity_type": "gene"
},
{
"created": "2025-08-28T17:28:55.364043+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THOC1 were changed from Nonsyndromic hearing loss to Hearing loss disorder, MONDO:0005365, THOC1-related",
"entity_name": "THOC1",
"entity_type": "gene"
},
{
"created": "2025-08-28T17:28:36.069489+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: THOC1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hearing loss disorder, MONDO:0005365, THOC1-related; Mode of inheritance: None",
"entity_name": "THOC1",
"entity_type": "gene"
},
{
"created": "2025-08-28T14:29:19.259482+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.136",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TPM1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33642254; Phenotypes: Cardiomyopathy, hypertrophic, 3 MIM#115196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2025-08-28T14:22:28.830238+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TDGF1 were changed from to Congenital nervous system disorder, MONDO:0002320, TDGF1-related",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2025-08-28T14:21:56.415544+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TDGF1: Changed rating: RED; Changed phenotypes: Congenital nervous system disorder, MONDO:0002320, TDGF1-related",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2025-08-28T14:21:36.276748+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TDGF1 were changed from Forebrain abnormalities to Congenital nervous system disorder, MONDO:0002320, TDGF1-related",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2025-08-28T14:21:19.659586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: TDGF1.",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2025-08-28T14:21:08.883200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TDGF1: Changed phenotypes: Congenital nervous system disorder, MONDO:0002320, TDGF1-related",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2025-08-28T14:20:56.760497+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TDGF1 were changed from Forebrain abnormalities to Congenital nervous system disorder, MONDO:0002320, TDGF1-related",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2025-08-28T14:20:35.571864+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TDGF1: Changed phenotypes: Congenital nervous system disorder, MONDO:0002320, TDGF1-related",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2025-08-28T14:15:02.142925+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCF7L2 were changed from Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Myopia; Abnormality of skeletal system to Neurodevelopmental disorder, MONDO:0700092, TCF7L2-related",
"entity_name": "TCF7L2",
"entity_type": "gene"
},
{
"created": "2025-08-28T14:14:33.744903+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TCF7L2: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TCF7L2-related",
"entity_name": "TCF7L2",
"entity_type": "gene"
},
{
"created": "2025-08-28T14:13:28.921539+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCF7L2 were changed from Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Myopia; Abnormality of skeletal system to Neurodevelopmental disorder, MONDO:0700092, TCF7L2-related",
"entity_name": "TCF7L2",
"entity_type": "gene"
},
{
"created": "2025-08-28T14:13:08.821582+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TCF7L2: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TCF7L2-related",
"entity_name": "TCF7L2",
"entity_type": "gene"
},
{
"created": "2025-08-28T14:11:50.090362+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCF7L1 as ready",
"entity_name": "TCF7L1",
"entity_type": "gene"
},
{
"created": "2025-08-28T14:11:50.078845+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcf7l1 has been classified as Red List (Low Evidence).",
"entity_name": "TCF7L1",
"entity_type": "gene"
},
{
"created": "2025-08-28T14:11:47.880158+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCF7L1 were changed from No OMIM number; pituitary hormone deficiency to Combined pituitary deficiencies, genetic form, MONDO:0013099, TCF7L1-related",
"entity_name": "TCF7L1",
"entity_type": "gene"
},
{
"created": "2025-08-28T14:11:37.577961+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TCF7L1 as Red List (low evidence)",
"entity_name": "TCF7L1",
"entity_type": "gene"
},
{
"created": "2025-08-28T14:11:37.563241+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcf7l1 has been classified as Red List (Low Evidence).",
"entity_name": "TCF7L1",
"entity_type": "gene"
},
{
"created": "2025-08-28T14:11:29.537739+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCF7L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined pituitary deficiencies, genetic form, MONDO:0013099, TCF7L1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCF7L1",
"entity_type": "gene"
},
{
"created": "2025-08-28T14:10:40.092647+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCF7L1 were changed from Congenital hypopituitarism to Combined pituitary deficiencies, genetic form, MONDO:0013099, TCF7L1-related",
"entity_name": "TCF7L1",
"entity_type": "gene"
},
{
"created": "2025-08-28T14:10:21.435315+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCF7L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined pituitary deficiencies, genetic form, MONDO:0013099, TCF7L1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCF7L1",
"entity_type": "gene"
},
{
"created": "2025-08-28T14:07:32.760912+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.136",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: VCL: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32516855; Phenotypes: Cardiomyopathy, dilated, 1W MIM#611407; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VCL",
"entity_type": "gene"
},
{
"created": "2025-08-28T13:22:12.863595+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NIT1 were changed from Cerebrovascular disorder, NIT1-related (MONDO:0011057) to Brain small vessel disease 4, MIM# 621313",
"entity_name": "NIT1",
"entity_type": "gene"
},
{
"created": "2025-08-28T13:21:58.460261+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease 4, MIM# 621313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NIT1",
"entity_type": "gene"
},
{
"created": "2025-08-28T13:21:05.172061+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NIT1 were changed from Cerebrovascular disorder, NIT1-related (MONDO:0011057) to Brain small vessel disease 4, MIM# 621313",
"entity_name": "NIT1",
"entity_type": "gene"
},
{
"created": "2025-08-28T13:20:51.359835+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease 4, MIM# 621313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NIT1",
"entity_type": "gene"
},
{
"created": "2025-08-28T13:19:29.960481+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NLRP1 as ready",
"entity_name": "NLRP1",
"entity_type": "gene"
},
{
"created": "2025-08-28T13:19:29.950151+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrp1 has been classified as Green List (High Evidence).",
"entity_name": "NLRP1",
"entity_type": "gene"
},
{
"created": "2025-08-28T13:19:27.732258+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NLRP1 were changed from Autoinflammation with arthritis and dyskeratosis to Autoinflammation with arthritis and dyskeratosis, MIM# 617388",
"entity_name": "NLRP1",
"entity_type": "gene"
},
{
"created": "2025-08-28T13:19:03.529707+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NLRP1 as Green List (high evidence)",
"entity_name": "NLRP1",
"entity_type": "gene"
},
{
"created": "2025-08-28T13:19:03.519595+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrp1 has been classified as Green List (High Evidence).",
"entity_name": "NLRP1",
"entity_type": "gene"
},
{
"created": "2025-08-28T13:18:32.544592+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammation with arthritis and dyskeratosis, MIM# 617388; Mode of inheritance: None",
"entity_name": "NLRP1",
"entity_type": "gene"
},
{
"created": "2025-08-28T12:47:24.501655+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NALCN were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419) to Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2025-08-28T12:46:55.567993+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NALCN were set to 30167850",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2025-08-28T12:46:23.056485+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NALCN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2025-08-28T12:45:54.396901+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683120, 35388452, 28327206, 27473021, 27558372; Phenotypes: Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266, Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2025-08-28T11:56:10.817068+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.21",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: NLRP1 was added\ngene: NLRP1 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: NLRP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: NLRP1 were set to PMID: 27965258\nPhenotypes for gene: NLRP1 were set to Autoinflammation with arthritis and dyskeratosis\nReview for gene: NLRP1 was set to GREEN\nAdded comment: Given overlap autoinflammatory / auto-immune phenotype with arthritis, thyroiditis, cytopaenias, hepatosplenomegaly should be included in immune dysregulation panel in addition to autoinflammatory panel. \nSources: Literature",
"entity_name": "NLRP1",
"entity_type": "gene"
},
{
"created": "2025-08-27T07:47:36.595979+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSNK2B as ready",
"entity_name": "CSNK2B",
"entity_type": "gene"
},
{
"created": "2025-08-27T07:47:36.585145+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csnk2b has been classified as Green List (High Evidence).",
"entity_name": "CSNK2B",
"entity_type": "gene"
},
{
"created": "2025-08-27T07:47:34.404395+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSNK2B were changed from intellectual disability; ataxia; epilepsy to Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732",
"entity_name": "CSNK2B",
"entity_type": "gene"
},
{
"created": "2025-08-27T07:47:04.956048+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSNK2B as Green List (high evidence)",
"entity_name": "CSNK2B",
"entity_type": "gene"
},
{
"created": "2025-08-27T07:47:04.944930+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csnk2b has been classified as Green List (High Evidence).",
"entity_name": "CSNK2B",
"entity_type": "gene"
},
{
"created": "2025-08-26T22:47:02.435512+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.44",
"user_name": "Boris Keren",
"item_type": "entity",
"text": "gene: CSNK2B was added\ngene: CSNK2B was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: CSNK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CSNK2B were set to PMID: 34041744\nPhenotypes for gene: CSNK2B were set to intellectual disability; ataxia; epilepsy\nPenetrance for gene: CSNK2B were set to Complete\nReview for gene: CSNK2B was set to GREEN\nAdded comment: PMID: 34041744. 25 patients with mostly de novo LoF or missenses and NDD. 25% have ataxia \nSources: Literature",
"entity_name": "CSNK2B",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:20:17.839030+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE4D as ready",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:20:17.829009+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde4d has been classified as Green List (High Evidence).",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:20:14.492422+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE4D were changed from to Acrodysostosis 2, with or without hormone resistance, MIM# 614613",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:19:48.625698+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE4D were set to ",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:19:16.847193+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE4D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:18:44.844253+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKAR1A as ready",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:18:44.834315+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkar1a has been classified as Green List (High Evidence).",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:18:41.874182+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKAR1A were changed from to Acrodysostosis 1, with or without hormone resistance, MIM# 101800",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:18:17.717005+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKAR1A were set to ",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:17:52.846148+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKAR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:17:20.642657+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAS as ready",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:17:20.632365+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnas has been classified as Green List (High Evidence).",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:17:17.381405+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAS were changed from to Pseudohypoparathyroidism Ia (103580) AD; Pseudohypoparathyroidism Ib (603233) AD; Pseudohypoparathyroidism Ic (612462) AD; Pseudopseudohypoparathyroidism (612463); Osseous heteroplasia, progressive (166350) AD; Pituitary adenoma 3, multiple types, somatic (617686)",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:17:03.498277+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNAS was changed from Unknown to Other",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:16:19.960177+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTHLH as ready",
"entity_name": "PTHLH",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:16:19.953711+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pthlh has been classified as Green List (High Evidence).",
"entity_name": "PTHLH",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:16:17.993862+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTHLH were changed from to Brachydactyly, type E2, MIM# 613382",
"entity_name": "PTHLH",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:15:57.490262+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTHLH were set to ",
"entity_name": "PTHLH",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:14:41.542159+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXD13 as ready",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:14:41.531457+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxd13 has been classified as Green List (High Evidence).",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:14:37.917622+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXD13 were changed from to Brachydactyly, type E, 113300",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:14:14.481260+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXD13 were set to ",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:13:41.776917+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOXD13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:13:08.040181+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBCE as ready",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:13:08.029538+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbce has been classified as Red List (Low Evidence).",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:13:05.996133+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBCE were changed from to Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:12:39.231016+10:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBCE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:11:51.619968+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDKN1C as ready",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:11:51.609471+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkn1c has been classified as Green List (High Evidence).",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:11:33.492406+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADK as ready",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:11:33.481760+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adk has been classified as Green List (High Evidence).",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:11:12.476620+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAH as ready",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2025-08-26T20:11:12.461599+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fah has been classified as Green List (High Evidence).",
"entity_name": "FAH",
"entity_type": "gene"
}
]
}