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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=739",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=737",
"results": [
{
"created": "2022-09-29T16:53:30.285959+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MMACHC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2022-09-29T16:52:36.343262+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MMACHC.",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2022-09-29T16:52:06.827591+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MMACHC.",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2022-09-29T16:51:55.526714+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MMACHC.",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2022-09-29T16:51:44.205472+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type MIM#277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2022-09-29T16:47:21.742868+10:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SLC25A20.",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-09-29T16:47:01.039606+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SLC25A20.",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-09-29T16:46:19.388600+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SLC25A20.",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-09-29T16:45:44.472951+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SLC25A20.",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-09-29T16:45:24.132074+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SLC25A20.",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-09-29T16:45:11.331700+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SLC25A20.",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-09-29T16:44:56.635225+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 33085788, 32885845; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-09-29T16:42:17.383292+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC22A5 as ready",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-09-29T16:42:17.373271+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc22a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-09-29T16:41:51.015981+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SLC22A5.",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-09-29T16:41:30.856463+10:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SLC22A5.",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-09-29T16:40:53.252845+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SLC22A5.",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-09-29T16:40:35.249696+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SLC22A5.",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-09-29T16:40:00.366926+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SLC22A5.",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-09-29T16:39:51.581130+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SLC22A5.",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-09-29T16:39:40.262911+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-09-29T08:58:17.922638+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-RNR1 as ready",
"entity_name": "MT-RNR1",
"entity_type": "gene"
},
{
"created": "2022-09-29T08:58:17.913188+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-rnr1 has been classified as Green List (High Evidence).",
"entity_name": "MT-RNR1",
"entity_type": "gene"
},
{
"created": "2022-09-29T08:58:11.667280+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-RNR1 as Green List (high evidence)",
"entity_name": "MT-RNR1",
"entity_type": "gene"
},
{
"created": "2022-09-29T08:58:11.658509+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-rnr1 has been classified as Green List (High Evidence).",
"entity_name": "MT-RNR1",
"entity_type": "gene"
},
{
"created": "2022-09-29T08:57:57.526260+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-RNR1 was added\ngene: MT-RNR1 was added to gNBS. Sources: Expert Review\npharmacogenomic tags were added to gene: MT-RNR1.\nMode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL\nPhenotypes for gene: MT-RNR1 were set to Aminoglycoside sensitivity\nReview for gene: MT-RNR1 was set to GREEN\nAdded comment: The following variants have been associated with aminoglycoside-induced deafness:\r\nm.1555A>G\r\nm.1005T>C\r\nm.1095T>C\r\n\r\nAlerts can be placed in medical records to avoid aminoglycoside administration. \nSources: Expert Review",
"entity_name": "MT-RNR1",
"entity_type": "gene"
},
{
"created": "2022-09-29T07:46:04.816437+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.210",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MEFV as Amber List (moderate evidence)",
"entity_name": "MEFV",
"entity_type": "gene"
},
{
"created": "2022-09-29T07:46:04.808844+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.210",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mefv has been classified as Amber List (Moderate Evidence).",
"entity_name": "MEFV",
"entity_type": "gene"
},
{
"created": "2022-09-29T07:37:26.075830+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.209",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: MEFV was added\ngene: MEFV was added to Proteinuria. Sources: Literature\nMode of inheritance for gene: MEFV was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MEFV were set to PMID: 27956278\nPhenotypes for gene: MEFV were set to Familial Mediterranean fever MIM#134610; Familial Mediterranean fever MIM#249100; Neutrophilic dermatosis, acute febrile MIM#608068\nMode of pathogenicity for gene: MEFV was set to Other\nReview for gene: MEFV was set to AMBER\nAdded comment: PMID: 27956278 - p.Met694Ile single variant in the homozygous state has been reported as enriched within individuals with renal amyloidosis and FMF. \nSources: Literature",
"entity_name": "MEFV",
"entity_type": "gene"
},
{
"created": "2022-09-28T14:59:15.056770+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: COQ8B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2022-09-28T14:53:00.663222+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2022-09-28T14:46:08.637020+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: COQ7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2022-09-28T14:34:30.245164+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: COQ4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2022-09-28T14:27:59.628735+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2022-09-28T14:17:27.503829+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: CLN8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2022-09-28T14:11:24.488632+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2022-09-28T14:06:24.006364+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: CLN5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2022-09-28T14:01:56.928152+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: CLN3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2022-09-28T11:19:19.814641+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.121",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: PAM16 was added\ngene: PAM16 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list\nMode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PAM16 were set to 24786642\nPhenotypes for gene: PAM16 were set to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320\nReview for gene: PAM16 was set to GREEN\nAdded comment: Severe prenatal short stature, narrow chest, prominent abdomen, and short limbs are reported features. \nSources: Literature, Expert list",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2022-09-28T11:10:17.225915+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.121",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: PCNT was added\ngene: PCNT was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list\nMode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCNT were set to 34978779\nPhenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II - MIM#210720\nReview for gene: PCNT was set to GREEN\nAdded comment: Primordial dwarfism with significant prenatal growth restriction and mesomelia reported. \nSources: Literature, Expert list",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2022-09-28T10:36:23.500582+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.121",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: POC1A was added\ngene: POC1A was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list\nMode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POC1A were set to 31630891; 31630891; 30569574\nPhenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813\nReview for gene: POC1A was set to GREEN\nAdded comment: Primordial dwarfism characterised by disproportionate severe short stature prenatal in onset. \nSources: Literature, Expert list",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2022-09-28T10:20:25.480201+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.121",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: POP1 was added\ngene: POP1 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list\nMode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POP1 were set to 21455487; 27380734; 28067412\nPhenotypes for gene: POP1 were set to Anauxetic dysplasia 2, OMIM:617396; Anauxetic dysplasia 2, MONDO:0054561\nReview for gene: POP1 was set to GREEN\nAdded comment: Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset. \nSources: Literature, Expert list",
"entity_name": "POP1",
"entity_type": "gene"
},
{
"created": "2022-09-28T09:19:08.135751+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.121",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ROR2 was added\ngene: ROR2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ROR2 were set to 20301418; 31617258; 24932600\nPhenotypes for gene: ROR2 were set to Robinow syndrome, autosomal recessive - MIM#268310\nReview for gene: ROR2 was set to GREEN\nAdded comment: Antenatal findings of acromesomelia reported with Robinow syndrome. \nSources: Expert list, Literature",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2022-09-27T23:16:45.368090+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: CHRNG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2022-09-27T23:11:23.862729+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2022-09-27T23:08:20.537613+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "changed review comment from: congenital myasthenia syndrome\r\n\r\nanti cholinesterase inhibitors partially effective - PMID: 30808424; www.ncbi.nlm.nih.gov/books/NBK1168/#cms.Summary; to: congenital myasthenia syndrome\r\n\r\nanti cholinesterase inhibitors partially effective; 3,4-DAP effective - PMID: 30808424; www.ncbi.nlm.nih.gov/books/NBK1168/#cms.Summary",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2022-09-27T23:06:29.025095+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2022-09-27T23:03:49.728616+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2022-09-27T22:58:08.745396+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:58:11.911153+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:52:44.684305+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:44:20.906581+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: BCS1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:43:02.486748+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: BCKDK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:38:01.724861+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: BCHE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCHE",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:35:19.895089+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: AUH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:24:22.590077+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCFD2 were changed from Factor V and Factor VIII deficiency, combined to Factor V and factor VIII, combined deficiency of, MIM# 613625",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:24:06.411779+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: MCFD2.",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:21:44.913156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MC2R.",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:17:59.284196+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MC2R as ready",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:17:59.268420+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mc2r has been classified as Green List (High Evidence).",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:17:17.867337+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MC2R.",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:17:07.032471+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:15:31.946015+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MBTPS2 as ready",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:15:31.934038+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbtps2 has been classified as Red List (Low Evidence).",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:15:27.552107+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MBTPS2 were changed from Ichthyosis follicularis, alopecia & photophobia to IFAP syndrome with or without BRESHECK syndrome MIM#308205",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:15:17.865843+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MBTPS2 as Red List (low evidence)",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:15:17.856465+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbtps2 has been classified as Red List (Low Evidence).",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:14:07.588807+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MARVELD2 as ready",
"entity_name": "MARVELD2",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:14:07.575619+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: marveld2 has been classified as Green List (High Evidence).",
"entity_name": "MARVELD2",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:14:02.711174+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MARVELD2 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 49, MIM# 610153",
"entity_name": "MARVELD2",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:13:06.228208+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP2K2 as ready",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:13:06.218182+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map2k2 has been classified as Red List (Low Evidence).",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:13:01.630361+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP2K2 were changed from Cardiofaciocutaneous syndrome to Cardiofaciocutaneous syndrome 4, MIM# 615280",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:12:51.677876+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAP2K2 as Red List (low evidence)",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:12:51.668274+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map2k2 has been classified as Red List (Low Evidence).",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:11:40.044528+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP2K1 as ready",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:11:40.034251+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map2k1 has been classified as Red List (Low Evidence).",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:11:35.892591+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP2K1 were changed from Cardiofaciocutaneous syndrome to Cardiofaciocutaneous syndrome 3, MIM# 615279",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:11:15.332100+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAP2K1 as Red List (low evidence)",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:11:15.317412+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map2k1 has been classified as Red List (Low Evidence).",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:08:29.867594+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MAN2B1.",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:08:07.912522+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MAN2B1.",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:06:13.334269+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MAN2B1.",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:05:32.594863+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MAN2B1.",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:05:09.790075+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAN2B1 as ready",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:05:09.781852+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2b1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:04:33.675319+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha to Mannosidosis, alpha-, types I and II, MIM# 248500",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:04:19.627092+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: MAN2B1.",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:03:03.991653+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: MAGI2.",
"entity_name": "MAGI2",
"entity_type": "gene"
},
{
"created": "2022-09-27T17:02:52.584263+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAGI2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 15, MIM# 617609; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAGI2",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:59:38.719329+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAFB as ready",
"entity_name": "MAFB",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:59:38.709452+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mafb has been classified as Green List (High Evidence).",
"entity_name": "MAFB",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:59:34.224913+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAFB were changed from Multicentric carpotarsal osteolysis syndrome to Multicentric carpotarsal osteolysis syndrome (MIM#166300)",
"entity_name": "MAFB",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:59:22.715514+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAFB were set to ",
"entity_name": "MAFB",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:59:09.224960+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: MAFB.",
"entity_name": "MAFB",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:58:56.979903+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two case reports of successful treatment with cyclosporin.\r\n\r\nFor review.; to: Two case reports of successful treatment (esp of nephropathy) with cyclosporin.\r\n\r\nFor review.",
"entity_name": "MAFB",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:58:42.074978+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 33975323; Phenotypes: Multicentric carpotarsal osteolysis syndrome (MIM#166300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAFB",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:55:53.635172+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAD2L2 as ready",
"entity_name": "MAD2L2",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:55:53.593352+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mad2l2 has been classified as Red List (Low Evidence).",
"entity_name": "MAD2L2",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:55:49.191631+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAD2L2 were set to ",
"entity_name": "MAD2L2",
"entity_type": "gene"
}
]
}