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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=356",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=354",
"results": [
{
"created": "2024-11-06T18:55:22.923674+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LINC01578 as Green List (high evidence)",
"entity_name": "LINC01578",
"entity_type": "gene"
},
{
"created": "2024-11-06T18:55:22.912707+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: linc01578 has been classified as Green List (High Evidence).",
"entity_name": "LINC01578",
"entity_type": "gene"
},
{
"created": "2024-11-06T18:54:56.403328+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LINC01578 was added\ngene: LINC01578 was added to Mendeliome. Sources: Literature\nSV/CNV, new gene name tags were added to gene: LINC01578.\nMode of inheritance for gene: LINC01578 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LINC01578 were set to Neurodevelopmental disorder, MONDO:0700092, CHASERR-related\nReview for gene: LINC01578 was set to GREEN\nAdded comment: CHASERR encodes a human long noncoding RNA (lncRNA) adjacent to CHD2, a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Three unrelated children reported with a syndromic, early-onset neurodevelopmental disorder, each of whom had a de novo deletion in the CHASERR locus. The children had severe encephalopathy, shared facial dysmorphisms, cortical atrophy, and cerebral hypomyelination - a phenotype that is distinct from the phenotypes of patients with CHD2 haploinsufficiency. CHASERR deletion results in increased CHD2 protein abundance in patient-derived cell lines and increased expression of the CHD2 transcript in cis, indicating bidirectional dosage sensitivity in human disease. \nSources: Literature",
"entity_name": "LINC01578",
"entity_type": "gene"
},
{
"created": "2024-11-06T18:54:02.247872+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: LINC01578.",
"entity_name": "LINC01578",
"entity_type": "gene"
},
{
"created": "2024-11-06T18:53:31.546372+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LINC01578 as ready",
"entity_name": "LINC01578",
"entity_type": "gene"
},
{
"created": "2024-11-06T18:53:31.531578+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: linc01578 has been classified as Green List (High Evidence).",
"entity_name": "LINC01578",
"entity_type": "gene"
},
{
"created": "2024-11-06T18:51:32.826773+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LINC01578 as Green List (high evidence)",
"entity_name": "LINC01578",
"entity_type": "gene"
},
{
"created": "2024-11-06T18:51:32.812398+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: linc01578 has been classified as Green List (High Evidence).",
"entity_name": "LINC01578",
"entity_type": "gene"
},
{
"created": "2024-11-06T18:50:26.874170+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LINC01578 was added\ngene: LINC01578 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nnew gene name tags were added to gene: LINC01578.\nMode of inheritance for gene: LINC01578 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LINC01578 were set to 39442041\nPhenotypes for gene: LINC01578 were set to Neurodevelopmental disorder, MONDO:0700092, CHASERR-related\nReview for gene: LINC01578 was set to GREEN\nAdded comment: CHASERR encodes a human long noncoding RNA (lncRNA) adjacent to CHD2, a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Three unrelated children reported with a syndromic, early-onset neurodevelopmental disorder, each of whom had a de novo deletion in the CHASERR locus. The children had severe encephalopathy, shared facial dysmorphisms, cortical atrophy, and cerebral hypomyelination - a phenotype that is distinct from the phenotypes of patients with CHD2 haploinsufficiency. CHASERR deletion results in increased CHD2 protein abundance in patient-derived cell lines and increased expression of the CHD2 transcript in cis, indicating bidirectional dosage sensitivity in human disease. \nSources: Literature",
"entity_name": "LINC01578",
"entity_type": "gene"
},
{
"created": "2024-11-06T18:43:13.299852+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU5B-1 as ready",
"entity_name": "RNU5B-1",
"entity_type": "gene"
},
{
"created": "2024-11-06T18:43:13.280660+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu5b-1 has been classified as Green List (High Evidence).",
"entity_name": "RNU5B-1",
"entity_type": "gene"
},
{
"created": "2024-11-06T18:43:02.712319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU5B-1 as Green List (high evidence)",
"entity_name": "RNU5B-1",
"entity_type": "gene"
},
{
"created": "2024-11-06T18:43:02.695852+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu5b-1 has been classified as Green List (High Evidence).",
"entity_name": "RNU5B-1",
"entity_type": "gene"
},
{
"created": "2024-11-06T18:42:41.699984+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU5B-1 was added\ngene: RNU5B-1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RNU5B-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RNU5B-1 were set to https://www.medrxiv.org/content/10.1101/2024.10.04.24314692v1.full.pdf; https://www.medrxiv.org/content/10.1101/2024.10.07.24314689v1\nPhenotypes for gene: RNU5B-1 were set to Neurodevelopmental disorder, MONDO:0700092, RNU5B-1 related\nReview for gene: RNU5B-1 was set to GREEN\nAdded comment: 20 individuals reported in two preprints with de novo variants in this gene and a neurodevelopmental phenotype. \nSources: Literature",
"entity_name": "RNU5B-1",
"entity_type": "gene"
},
{
"created": "2024-11-06T18:41:56.367583+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU5B-1 as ready",
"entity_name": "RNU5B-1",
"entity_type": "gene"
},
{
"created": "2024-11-06T18:41:56.353775+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu5b-1 has been classified as Green List (High Evidence).",
"entity_name": "RNU5B-1",
"entity_type": "gene"
},
{
"created": "2024-11-06T18:39:16.860851+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU5B-1 were changed from to Neurodevelopmental disorder, MONDO:0700092, RNU5B-1 related",
"entity_name": "RNU5B-1",
"entity_type": "gene"
},
{
"created": "2024-11-06T18:38:27.957113+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU5B-1 as Green List (high evidence)",
"entity_name": "RNU5B-1",
"entity_type": "gene"
},
{
"created": "2024-11-06T18:38:27.947923+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu5b-1 has been classified as Green List (High Evidence).",
"entity_name": "RNU5B-1",
"entity_type": "gene"
},
{
"created": "2024-11-06T18:37:45.994593+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU5B-1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, RNU5B-1 related",
"entity_name": "RNU5B-1",
"entity_type": "gene"
},
{
"created": "2024-11-06T18:36:56.169600+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU5B-1 was added\ngene: RNU5B-1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RNU5B-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RNU5B-1 were set to https://www.medrxiv.org/content/10.1101/2024.10.04.24314692v1.full.pdf; https://www.medrxiv.org/content/10.1101/2024.10.07.24314689v1\nReview for gene: RNU5B-1 was set to GREEN\nAdded comment: 20 individuals reported in two preprints with de novo variants in this gene and a neurodevelopmental phenotype. \nSources: Literature",
"entity_name": "RNU5B-1",
"entity_type": "gene"
},
{
"created": "2024-11-06T16:27:03.937716+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBXAS1 as ready",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2024-11-06T16:27:03.923263+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbxas1 has been classified as Green List (High Evidence).",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2024-11-06T16:26:47.208549+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBXAS1 were changed from Ghosal hematodiaphyseal syndrome 231095 to Ghosal hematodiaphyseal syndrome MIM#231095",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2024-11-06T16:26:15.646401+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBXAS1 were set to ",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2024-11-06T16:25:40.941259+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBXAS1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2024-11-06T16:05:45.819410+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MBOAT7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2024-11-06T16:05:11.083902+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MBOAT7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability MIM#617188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2024-11-04T17:40:17.446469+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.546",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18204449, 22357925, 32537934; Phenotypes: Congenital arthrogryposis with anterior horn cell disease, MIM #611890, Lethal congenital contracture syndrome 1, MIM #253310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLE1",
"entity_type": "gene"
},
{
"created": "2024-11-04T17:05:11.054033+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.546",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: GDI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28863211, 22002931, 9620768, 9668174; Phenotypes: Intellectual developmental disorder, X-linked 41, MIM #300849; 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": "GDI1",
"entity_type": "gene"
},
{
"created": "2024-11-04T16:16:46.678725+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.546",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: GDF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32144877, 20413652, 28991257; Phenotypes: Right atrial isomerism (Ivemark), MIM #208530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2024-11-04T14:17:54.596732+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.546",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: GDAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301711, 16172208, 21753178, 21365284, 20232219, 11743580; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2K, MIM #607831, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM #607706, Charcot-Marie-Tooth disease, recessive intermediate, A, MIM #608340, Charcot-Marie-Tooth disease, type 4A, MIM#214400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GDAP1",
"entity_type": "gene"
},
{
"created": "2024-11-04T13:00:31.118948+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.546",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: FTCD: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29178637; Phenotypes: Glutamate formiminotransferase deficiency, MIM #229100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2024-11-04T12:44:45.317956+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.546",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301558, 28176767, 29178241; Phenotypes: Fragile X syndrome, MIM #300624; 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": "FMR1",
"entity_type": "gene"
},
{
"created": "2024-11-04T12:23:39.488870+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KIF5A as ready",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2024-11-04T12:23:39.473595+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kif5a has been classified as Green List (High Evidence).",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2024-11-04T12:21:52.858561+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.546",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34396589, 20301402, 18513678, 34781237, 19038853; Phenotypes: Parkinson disease 15, autosomal recessive, MIM #260300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2024-11-04T12:16:06.553330+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KIF5A as Green List (high evidence)",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2024-11-04T12:16:06.543213+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kif5a has been classified as Green List (High Evidence).",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2024-11-04T11:54:40.062452+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KIF5A was added\ngene: KIF5A was added to Optic Atrophy. Sources: Literature\nMode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF5A were set to 35921593; 27463701\nPhenotypes for gene: KIF5A were set to myoclonus, intractable, neonatal MONDO:0014979; Leber hereditary optic neuropathy MONDO:0010788\nMode of pathogenicity for gene: KIF5A 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: KIF5A was set to GREEN\nAdded comment: Optic atrophy has been reported as a feature of the NEIMY phenotype, and a missense variant has been reported in a family with LHON. Dominant negative effects and toxic gain-of-function are the mechanism of disease for this gene. \nSources: Literature",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2024-11-04T11:24:37.750584+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.546",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 14566705, 21484434, 28041799, 11704758; Phenotypes: Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure, MIM #620312; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2024-11-03T18:20:43.152796+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPATA22 were changed from Premature ovarian insufficiency and nonobstructive azoospermia; Genetic infertility MONDO:0017143 to Spermatogenic failure 96, MIM#621001; Premature ovarian failure 25, MIM#621002",
"entity_name": "SPATA22",
"entity_type": "gene"
},
{
"created": "2024-11-03T18:20:12.861367+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPATA22: Changed phenotypes: Spermatogenic failure 96, MIM#621001, Premature ovarian failure 25, MIM#621002",
"entity_name": "SPATA22",
"entity_type": "gene"
},
{
"created": "2024-11-03T18:17:07.449987+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRPK3 were changed from Neurodevelopmental disorder, MONDO:0700092, SRPK3-related to Intellectual developmental disorder, X-linked, 114, MIM#301134",
"entity_name": "SRPK3",
"entity_type": "gene"
},
{
"created": "2024-11-03T18:16:51.609509+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SRPK3: Changed phenotypes: Intellectual developmental disorder, X-linked, 114, MIM#301134",
"entity_name": "SRPK3",
"entity_type": "gene"
},
{
"created": "2024-11-03T18:16:36.481993+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRPK3 were changed from Neurodevelopmental disorder, MONDO:0700092, SRPK3-related to Intellectual developmental disorder, X-linked, 114, MIM#301134",
"entity_name": "SRPK3",
"entity_type": "gene"
},
{
"created": "2024-11-03T18:16:01.170942+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SRPK3: Changed phenotypes: Intellectual developmental disorder, X-linked, 114, MIM#301134",
"entity_name": "SRPK3",
"entity_type": "gene"
},
{
"created": "2024-11-03T18:15:47.388643+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRPK3 were changed from Neurodevelopmental disorder, MONDO:0700092, SRPK3-related to Intellectual developmental disorder, X-linked, 114, MIM#301134",
"entity_name": "SRPK3",
"entity_type": "gene"
},
{
"created": "2024-11-03T18:15:14.839109+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SRPK3: Changed phenotypes: Intellectual developmental disorder, X-linked, 114, MIM#301134",
"entity_name": "SRPK3",
"entity_type": "gene"
},
{
"created": "2024-11-03T18:14:55.220514+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRPK3 were changed from Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related; Neurodevelopmental disorder, MONDO:0700092, SRPK3-related to Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related; Intellectual developmental disorder, X-linked, 114, MIM#301134",
"entity_name": "SRPK3",
"entity_type": "gene"
},
{
"created": "2024-11-03T18:14:23.450028+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SRPK3: Changed phenotypes: Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related, Intellectual developmental disorder, X-linked, 114, MIM#301134",
"entity_name": "SRPK3",
"entity_type": "gene"
},
{
"created": "2024-11-02T20:22:48.647613+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFEMP2 as ready",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2024-11-02T20:22:48.632812+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efemp2 has been classified as Green List (High Evidence).",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2024-11-02T20:22:44.666323+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EFEMP2 were set to ",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2024-11-01T16:49:31.031898+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.545",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21563328, 30140196; Phenotypes: Cutis laxa, autosomal recessive, type IB, MIM #614437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2024-11-01T16:36:20.819551+11:00",
"panel_name": "Thyroid Cancer",
"panel_id": 4362,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-01T16:35:56.386939+11:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-01T16:35:25.370012+11:00",
"panel_name": "Sarcoma non-soft tissue",
"panel_id": 4359,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-01T16:34:57.160431+11:00",
"panel_name": "Prostate Cancer",
"panel_id": 4372,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-01T16:34:15.867377+11:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-01T16:33:54.260596+11:00",
"panel_name": "Parathyroid Tumour",
"panel_id": 4363,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-01T16:33:22.556373+11:00",
"panel_name": "Paraganglioma_phaeochromocytoma",
"panel_id": 4365,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-01T16:32:48.345604+11:00",
"panel_name": "Melanoma",
"panel_id": 3279,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; SA Pathology; Adult Genetics Unit, Royal Adelaide Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-01T16:32:06.656202+11:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-01T16:31:31.052333+11:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; SA Pathology; Adult Genetics Unit, Royal Adelaide Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-01T16:30:46.611685+11:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-01T16:30:20.650799+11:00",
"panel_name": "Neuroblastoma",
"panel_id": 4361,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-01T16:29:51.528829+11:00",
"panel_name": "Meningioma",
"panel_id": 4356,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-01T16:29:18.070859+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-01T16:28:51.103169+11:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-01T16:28:14.720647+11:00",
"panel_name": "Diffuse Gastric Cancer",
"panel_id": 4368,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-01T16:27:41.611847+11:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-01T16:26:57.182211+11:00",
"panel_name": "Breast Cancer",
"panel_id": 4375,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-01T16:26:31.379352+11:00",
"panel_name": "Basal Cell Cancer",
"panel_id": 4360,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-01T16:25:21.015091+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.545",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "edited their review of gene: TMEM94: Changed publications: 30526868, 32825426",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2024-11-01T16:24:21.894448+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.545",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: TMEM94: Rating: GREEN; Mode of pathogenicity: None; Publications: 30526868; Phenotypes: Intellectual developmental disorder with cardiac defects and dysmorphic facies MIM#618316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2024-10-31T17:10:45.789301+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.545",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: DCDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25557784, 31821705, 27319779, 27469900, 36938759, 34155636; Phenotypes: Nephronophthisis 19, MIM #616217, Sclerosing cholangitis, neonatal, MIM #617394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2024-10-31T14:55:10.367784+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.545",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36718996, 28285769, 31481716, 38956876, 34828430; Phenotypes: Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CWC27",
"entity_type": "gene"
},
{
"created": "2024-10-31T14:07:34.452757+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.545",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: None; Publications: 22364848; Phenotypes: Glycogen storage disease VII MIM#232800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PFKM",
"entity_type": "gene"
},
{
"created": "2024-10-31T12:49:48.771263+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.545",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22619378, 31373179, 23033313, 16783569; Phenotypes: Joubert syndrome 10 MIM#300804, Simpson-Golabi-Behmel syndrome, type 2 MIM#300209, Retinitis pigmentosa 23 MIM#300424; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2024-10-31T12:48:44.160377+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLB1 as ready",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2024-10-31T12:48:44.135375+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glb1 has been classified as Green List (High Evidence).",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2024-10-31T12:48:40.900658+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLB1 were changed from Mucopolysaccharidosis type IVB (Morquio), 253010 (3) to GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM#230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2024-10-31T12:48:28.405181+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLB1 were set to ",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2024-10-31T12:47:36.203738+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GOSR2 as ready",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2024-10-31T12:47:36.192582+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gosr2 has been classified as Green List (High Evidence).",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2024-10-31T12:47:32.754804+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GOSR2 were changed from Epilepsy, progressive myoclonic 6, 614018 (3) to Epilepsy, progressive myoclonic 6 MIM#614018; Muscular dystrophy, congenital, with or without seizures MIM#620166",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2024-10-31T12:47:19.389390+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GOSR2 were set to ",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2024-10-31T12:46:31.619679+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPG11 were changed from Spastic paraplegia 11, autosomal recessive, MIM# 604360 to Hereditary spastic paraplegia 11 MONDO:0011445",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2024-10-31T12:45:11.651857+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTSA as ready",
"entity_name": "CTSA",
"entity_type": "gene"
},
{
"created": "2024-10-31T12:45:11.627713+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsa has been classified as Green List (High Evidence).",
"entity_name": "CTSA",
"entity_type": "gene"
},
{
"created": "2024-10-31T12:45:08.372345+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTSA were changed from Galactosialidosis, 256540 (3) to Galactosialidosis MIM#256540",
"entity_name": "CTSA",
"entity_type": "gene"
},
{
"created": "2024-10-31T12:44:55.659929+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTSA were set to ",
"entity_name": "CTSA",
"entity_type": "gene"
},
{
"created": "2024-10-31T12:43:35.033614+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDR2 as ready",
"entity_name": "DDR2",
"entity_type": "gene"
},
{
"created": "2024-10-31T12:43:35.017539+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddr2 has been classified as Green List (High Evidence).",
"entity_name": "DDR2",
"entity_type": "gene"
},
{
"created": "2024-10-31T12:38:32.613201+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDR2 were set to ",
"entity_name": "DDR2",
"entity_type": "gene"
},
{
"created": "2024-10-31T12:37:31.048033+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AHI1 as ready",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2024-10-31T12:37:31.033580+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahi1 has been classified as Green List (High Evidence).",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2024-10-31T12:37:27.885080+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AHI1 were changed from Joubert syndrome-3, 608629 (3) to Joubert syndrome 3 MIM#608629",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2024-10-31T12:37:15.780912+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AHI1 were set to ",
"entity_name": "AHI1",
"entity_type": "gene"
}
]
}