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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=292",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=290",
"results": [
{
"created": "2025-02-27T16:18:39.891411+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZFHX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:18:24.452031+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZFHX3: Added comment: PMID 38508705: 8 unrelated probands with biallelic variants and a phenotype consistent with DEE and childhood partial epilepsy. Also a supporting Drosophila Zfh2 knockdown model with seizure-like behaviour.; Changed publications: 37292950, 38508705; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related, developmental and epileptic encephalopathy MONDO:0100062, ZFHX3-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:15:39.632974+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RYR3 were changed from undetermined early-onset epileptic encephalopathy (MONDO:0018614) to Developmental and epileptic encephalopathy MONDO:0100062, RYR3-related",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:15:06.452543+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RYR3 as Red List (low evidence)",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:15:06.442022+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr3 has been classified as Red List (Low Evidence).",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:14:40.173204+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RYR3: Added comment: LIMITED by ClinGEN for epilepsy.; Changed rating: RED; Changed phenotypes: Developmental and epileptic encephalopathy MONDO:0100062, RYR3-related",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:13:42.916047+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RYR3 as Red List (low evidence)",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:13:42.903743+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr3 has been classified as Red List (Low Evidence).",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:13:19.755213+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: DISPUTED by ClinGen; to: DISPUTED by ClinGen for myopathy. LIMITED for epilepsy.",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:12:29.437856+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RYR3: Added comment: DISPUTED by ClinGen; Changed rating: RED",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:12:05.562180+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SELENON was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:11:11.842385+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SELENON was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:10:56.933602+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SELENON: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:10:24.105071+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EEFSEC were changed from Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related to Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102",
"entity_name": "EEFSEC",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:10:07.057033+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EEFSEC: Changed phenotypes: Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102",
"entity_name": "EEFSEC",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:09:45.410836+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EEFSEC were changed from Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related to Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102",
"entity_name": "EEFSEC",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:09:06.664952+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EEFSEC: Changed phenotypes: Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102",
"entity_name": "EEFSEC",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:08:39.145480+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EEFSEC were changed from Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related to Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102",
"entity_name": "EEFSEC",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:08:15.675649+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EEFSEC: Changed phenotypes: Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102",
"entity_name": "EEFSEC",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:08:04.526362+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EEFSEC were changed from Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related to Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102",
"entity_name": "EEFSEC",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:07:22.410020+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EEFSEC were changed from Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related to Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102",
"entity_name": "EEFSEC",
"entity_type": "gene"
},
{
"created": "2025-02-27T15:57:12.024310+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EEFSEC were changed from Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related to Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM# 621102",
"entity_name": "EEFSEC",
"entity_type": "gene"
},
{
"created": "2025-02-27T12:29:31.607340+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EEFSEC: Changed phenotypes: Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM# 621102",
"entity_name": "EEFSEC",
"entity_type": "gene"
},
{
"created": "2025-02-18T09:50:48.545612+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2303",
"user_name": "Monique Dunstan",
"item_type": "entity",
"text": "reviewed gene: ALG5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: k,jsvz k,ajwbSCNZ, jqHABWDSCZ, ,JHqabwmsc; Mode of inheritance: None",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2025-02-18T09:50:10.979505+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2303",
"user_name": "Monique Dunstan",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: wkaesdC\r\nesjhdbcmzx",
"entity_name": "HAT1",
"entity_type": "gene"
},
{
"created": "2025-02-18T09:50:10.958722+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2303",
"user_name": "Monique Dunstan",
"item_type": "entity",
"text": "Phenotypes for gene: HAT1 were changed from sajhavscz to sajhavscz",
"entity_name": "HAT1",
"entity_type": "gene"
},
{
"created": "2025-02-18T09:49:53.043397+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2302",
"user_name": "Monique Dunstan",
"item_type": "entity",
"text": "Tag STR tag was added to gene: HAT1.\nTag refuted tag was added to gene: HAT1.",
"entity_name": "HAT1",
"entity_type": "gene"
},
{
"created": "2025-02-18T09:49:37.165941+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2302",
"user_name": "Katrina Bell",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ABCB4.",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2025-02-18T09:49:34.236541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2302",
"user_name": "Monique Dunstan",
"item_type": "entity",
"text": "gene: HAT1 was added\ngene: HAT1 was added to Mendeliome. Sources: UKGTN\nSV/CNV tags were added to gene: HAT1.\nMode of inheritance for gene: HAT1 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: HAT1 were set to PMID:716253\nPhenotypes for gene: HAT1 were set to sajhavscz\nPenetrance for gene: HAT1 were set to Complete\nMode of pathogenicity for gene: HAT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: HAT1 was set to AMBER\nAdded comment: mjsfgzdckz.x,n efks.dzjhk. liuksweF<KDCjz lukESABJFC \nSources: UKGTN",
"entity_name": "HAT1",
"entity_type": "gene"
},
{
"created": "2025-02-18T09:49:11.596443+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2301",
"user_name": "Katrina Bell",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: ABCA1.\nTag 5'UTR tag was added to gene: ABCA1.",
"entity_name": "ABCA1",
"entity_type": "gene"
},
{
"created": "2025-02-18T09:48:52.622605+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2301",
"user_name": "Katrina Bell",
"item_type": "entity",
"text": "reviewed gene: ABCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: X VX; Phenotypes: Campomelic dysplasia with autosomal sex reversal 114290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ABCA1",
"entity_type": "gene"
},
{
"created": "2025-02-18T09:48:14.976736+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2301",
"user_name": "Katrina Bell",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: ACBD6.",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2025-02-18T09:47:59.248417+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2301",
"user_name": "Katrina Bell",
"item_type": "entity",
"text": "reviewed gene: ACBD6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: SZ C; Phenotypes: CA; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2025-02-18T09:47:31.394246+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2301",
"user_name": "Katrina Bell",
"item_type": "entity",
"text": "reviewed gene: ABCB6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Campomelic dysplasia with autosomal sex reversal 114290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2025-02-10T13:32:56.731765+11:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSPB8 were changed from autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773 to Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078; autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773",
"entity_name": "HSPB8",
"entity_type": "gene"
},
{
"created": "2025-02-10T13:32:32.240631+11:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HSPB8: Changed phenotypes: Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078, Distal myopathy, Vacuolar myopathy, Neuropathy, distal hereditary motor type IIA, 158590, Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673",
"entity_name": "HSPB8",
"entity_type": "gene"
},
{
"created": "2025-02-10T13:32:04.869234+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSPB8 were changed from Distal myopathy; Vacuolar myopathy; Neuropathy, distal hereditary motor type IIA, 158590; Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673 to Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078; Distal myopathy; Vacuolar myopathy; Neuropathy, distal hereditary motor type IIA, 158590; Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673",
"entity_name": "HSPB8",
"entity_type": "gene"
},
{
"created": "2025-02-10T13:31:33.962134+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HSPB8: Changed phenotypes: Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078, Distal myopathy, Vacuolar myopathy, Neuropathy, distal hereditary motor type IIA, 158590, Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673",
"entity_name": "HSPB8",
"entity_type": "gene"
},
{
"created": "2025-02-10T11:28:22.579652+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ANXA11 as ready",
"entity_name": "ANXA11",
"entity_type": "gene"
},
{
"created": "2025-02-10T11:28:22.549567+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: anxa11 has been classified as Green List (High Evidence).",
"entity_name": "ANXA11",
"entity_type": "gene"
},
{
"created": "2025-02-10T11:26:22.080703+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ANXA11 as Green List (high evidence)",
"entity_name": "ANXA11",
"entity_type": "gene"
},
{
"created": "2025-02-10T11:26:22.068262+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: anxa11 has been classified as Green List (High Evidence).",
"entity_name": "ANXA11",
"entity_type": "gene"
},
{
"created": "2025-02-10T11:23:49.767730+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ANXA11 was added\ngene: ANXA11 was added to Early-onset Dementia. Sources: Literature\nMode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANXA11 were set to 36458208; 39755715; 38896345; 38896262\nPhenotypes for gene: ANXA11 were set to amyotrophic lateral sclerosis type 23 MONDO:0027694\nMode of pathogenicity for gene: ANXA11 was set to Other\nReview for gene: ANXA11 was set to GREEN\ngene: ANXA11 was marked as current diagnostic\nAdded comment: FTD can be a feature of the condition. ANXA11 is classified as a multisystem proteinopathy gene. Gain-of-function is the mechanism of disease. \nSources: Literature",
"entity_name": "ANXA11",
"entity_type": "gene"
},
{
"created": "2025-02-08T14:19:29.121959+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CLCA2 as ready",
"entity_name": "CLCA2",
"entity_type": "gene"
},
{
"created": "2025-02-08T14:19:29.107581+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: clca2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLCA2",
"entity_type": "gene"
},
{
"created": "2025-02-08T14:19:22.692020+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2300",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CLCA2 as ready",
"entity_name": "CLCA2",
"entity_type": "gene"
},
{
"created": "2025-02-08T14:19:22.679104+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2300",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: clca2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLCA2",
"entity_type": "gene"
},
{
"created": "2025-02-08T14:19:05.714545+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2300",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CLCA2 as Amber List (moderate evidence)",
"entity_name": "CLCA2",
"entity_type": "gene"
},
{
"created": "2025-02-08T14:19:05.700997+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2300",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: clca2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLCA2",
"entity_type": "gene"
},
{
"created": "2025-02-08T14:18:38.025870+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2299",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLCA2 was added\ngene: CLCA2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CLCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLCA2 were set to 31326550\nPhenotypes for gene: CLCA2 were set to heart conduction disease MONDO:0000992\nReview for gene: CLCA2 was set to AMBER\nAdded comment: Only a single family reported. A missense (p.Trp575Cys) segregates with conduction disease in 5 individuals from a large Chinese family. Electrocardiogram monitoring of mice with missense introduced induced mild conduction block and ectopic pacemakers. \nSources: Literature",
"entity_name": "CLCA2",
"entity_type": "gene"
},
{
"created": "2025-02-08T14:18:16.543069+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CLCA2 as Amber List (moderate evidence)",
"entity_name": "CLCA2",
"entity_type": "gene"
},
{
"created": "2025-02-08T14:18:16.532094+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: clca2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLCA2",
"entity_type": "gene"
},
{
"created": "2025-02-08T14:18:08.615334+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: CLCA2: Changed rating: AMBER",
"entity_name": "CLCA2",
"entity_type": "gene"
},
{
"created": "2025-02-08T14:15:24.463663+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: CLCA2: Changed rating: RED",
"entity_name": "CLCA2",
"entity_type": "gene"
},
{
"created": "2025-02-08T13:58:46.179285+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLCA2 was added\ngene: CLCA2 was added to Cardiac conduction disease. Sources: NHS GMS\nMode of inheritance for gene: CLCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLCA2 were set to 31326550\nPhenotypes for gene: CLCA2 were set to heart conduction disease MONDO:0000992\nReview for gene: CLCA2 was set to AMBER\nAdded comment: A missense (p.Trp575Cys) segregates with conduction disease in 5 individuals from a large Chinese family. Electrocardiogram monitoring of mice with missense introduced induced mild conduction block and ectopic pacemakers. \nSources: NHS GMS",
"entity_name": "CLCA2",
"entity_type": "gene"
},
{
"created": "2025-02-08T00:15:00.229184+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19373259, 32841161, 33023511, 30124850; Phenotypes: Transcobalamin II deficiency MIM#275350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2025-02-08T00:11:37.228489+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27040691, 30591081, 35095425, 36317458; Phenotypes: Syndromic complex neurodevelopmental disorder MONDO:0800439; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2025-02-08T00:05:21.961162+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: STRADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17522105, 27170158, 33605605; Phenotypes: Polyhydramnios, megalencephaly, and symptomatic epilepsy MIM#611087; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STRADA",
"entity_type": "gene"
},
{
"created": "2025-02-07T23:56:55.357757+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12590259, 16585605, 20841510, 31512162, 27117246, 21772053, 32603902; Phenotypes: Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796, Immunodeficiency 31B MONDO:0013427; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2025-02-07T23:46:26.186162+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SSR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 4218363, 26264460, 33300232, 38805916; Phenotypes: Congenital disorder of glycosylation, type Iy MIM#300934; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SSR4",
"entity_type": "gene"
},
{
"created": "2025-02-07T23:25:32.641650+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "changed review comment from: Affected individuals cab present with neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. In some cases, symptoms resolved in the first year of life (PMID: 16751771).\r\nWell established gene-disease association, especially for bi-allelic variants, including animal model.\r\n\r\nAD association also reported, however, limited evidence in literature for mono-allelic cause of disease.; to: Affected individuals can present with neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. In some cases, symptoms resolved in the first year of life (PMID: 16751771).\r\nWell established gene-disease association, especially for bi-allelic variants, including animal model.\r\n\r\nAD association also reported, however, limited evidence in literature for mono-allelic cause of disease.",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2025-02-07T23:25:20.471468+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31604777, 30847549, 29859229, 16751771; Phenotypes: Hyperekplexia 3 MIM#614618; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2025-02-07T23:18:52.815805+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31325522, 19861545, 11524734; Phenotypes: Diarrhea 1, secretory chloride, congenital MIM#214700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC26A3",
"entity_type": "gene"
},
{
"created": "2025-02-07T23:13:06.717914+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24176978, 16282977, 20301371, 16282978; Phenotypes: Marinesco-Sjogren syndrome MIM#248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2025-02-07T23:04:15.346953+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SERPINH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20188343, 25510505, 31179625, 29520608, 33524049; Phenotypes: Osteogenesis imperfecta, type X, MIM# 613848, Osteogenesis imperfecta type 10, MONDO:0013459; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2025-02-07T22:47:28.767741+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12807966, 16221952, 16221952, 29510240, 12807966, 16158428, 25649377, 24105372; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Billuart type MIM#300486, X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0010337; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2025-02-07T22:40:01.963201+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755796, 25266737, 14564667, 18949062; Phenotypes: Nance-Horan syndrome MIM#302350, Cataract 40, X-linked MIM#302200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NHS",
"entity_type": "gene"
},
{
"created": "2025-02-07T22:25:51.052895+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 18199800, 26697755, 26862157, 26967905, 12421721, 18235101, 23274954, 23793029; Phenotypes: Renal-hepatic-pancreatic dysplasia 2 MIM#615415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2025-02-07T21:03:35.755918+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TTR as ready",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2025-02-07T21:03:35.743141+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ttr has been classified as Green List (High Evidence).",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2025-02-07T21:03:30.989477+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TTR as Green List (high evidence)",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2025-02-07T21:03:30.978113+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ttr has been classified as Green List (High Evidence).",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2025-02-07T21:03:23.510713+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTR was added\ngene: TTR was added to Cardiac conduction disease. Sources: NHS GMS\nMode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TTR were set to 35074177; 39196575\nPhenotypes for gene: TTR were set to Hereditary amyloidosis MONDO:0018634\nReview for gene: TTR was set to GREEN\ngene: TTR was marked as current diagnostic\nAdded comment: Conduction is a common feature of cardiac amyloidosis \nSources: NHS GMS",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2025-02-07T20:29:22.134219+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TNNI3K as ready",
"entity_name": "TNNI3K",
"entity_type": "gene"
},
{
"created": "2025-02-07T20:29:22.119254+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tnni3k has been classified as Green List (High Evidence).",
"entity_name": "TNNI3K",
"entity_type": "gene"
},
{
"created": "2025-02-07T20:29:15.342207+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TNNI3K as Green List (high evidence)",
"entity_name": "TNNI3K",
"entity_type": "gene"
},
{
"created": "2025-02-07T20:29:15.328399+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tnni3k has been classified as Green List (High Evidence).",
"entity_name": "TNNI3K",
"entity_type": "gene"
},
{
"created": "2025-02-07T20:29:07.771405+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TNNI3K was added\ngene: TNNI3K was added to Cardiac conduction disease. Sources: NHS GMS\nMode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TNNI3K were set to 25791106; 24925317; 30010057; 29355681\nPhenotypes for gene: TNNI3K were set to atrial conduction disease MONDO:0014500\nReview for gene: TNNI3K was set to GREEN\ngene: TNNI3K was marked as current diagnostic\nAdded comment: Established gene-disease association \nSources: NHS GMS",
"entity_name": "TNNI3K",
"entity_type": "gene"
},
{
"created": "2025-02-07T20:15:50.914953+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PRKAG2 as ready",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2025-02-07T20:15:50.898203+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prkag2 has been classified as Green List (High Evidence).",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2025-02-07T20:15:42.554883+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PRKAG2 as Green List (high evidence)",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2025-02-07T20:15:42.531567+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prkag2 has been classified as Green List (High Evidence).",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2025-02-07T20:15:32.282702+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRKAG2 was added\ngene: PRKAG2 was added to Cardiac conduction disease. Sources: NHS GMS\nMode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRKAG2 were set to 26729852; 32646569\nPhenotypes for gene: PRKAG2 were set to PRKAG2-related cardiomyopathy MONDO:0800484\nReview for gene: PRKAG2 was set to GREEN\ngene: PRKAG2 was marked as current diagnostic\nAdded comment: Conduction disease is a common feature of the condition. \nSources: NHS GMS",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2025-02-07T20:03:46.835031+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NKX2-5 as ready",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2025-02-07T20:03:46.817335+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nkx2-5 has been classified as Green List (High Evidence).",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2025-02-07T20:01:17.181680+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NKX2-5 as Green List (high evidence)",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2025-02-07T20:01:17.167546+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nkx2-5 has been classified as Green List (High Evidence).",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2025-02-07T20:01:09.373918+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NKX2-5 was added\ngene: NKX2-5 was added to Cardiac conduction disease. Sources: NHS GMS\nMode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NKX2-5 were set to 28259982; 15109497; 37697673\nPhenotypes for gene: NKX2-5 were set to NKX2.5-related congenital, conduction and myopathic heart disease MONDO:0800441\nReview for gene: NKX2-5 was set to GREEN\ngene: NKX2-5 was marked as current diagnostic\nAdded comment: Conduction disease is a feature of the condition. \nSources: NHS GMS",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:34:02.520633+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDM5 as ready",
"entity_name": "PRDM5",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:34:02.502693+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm5 has been classified as Green List (High Evidence).",
"entity_name": "PRDM5",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:33:37.991707+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM5 were changed from Brittle cornea syndrome 2, 614170 (3) to Brittle cornea syndrome 2, MIM#614170",
"entity_name": "PRDM5",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:33:26.391183+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRDM5 were set to ",
"entity_name": "PRDM5",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:33:01.081649+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGV as ready",
"entity_name": "PIGV",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:33:01.068200+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigv has been classified as Green List (High Evidence).",
"entity_name": "PIGV",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:32:56.923708+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGV were changed from Hyperphosphatasia with mental retardation syndrome 1, 239300 (3) to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398",
"entity_name": "PIGV",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:32:44.002635+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGV were set to ",
"entity_name": "PIGV",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:32:20.743939+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: TRAPPC6B.",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:31:55.602529+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC9 as ready",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:31:55.580455+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc9 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:31:52.690188+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC9 were changed from Mental retardation, autosomal recessive 13, 613192 (3) to Intellectual developmental disorder, autosomal recessive 13 MIM#613192",
"entity_name": "TRAPPC9",
"entity_type": "gene"
}
]
}