HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=577",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=575",
"results": [
{
"created": "2023-07-25T13:35:06.589872+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1007",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: KDM2A was added\ngene: KDM2A was added to Mendeliome. Sources: Other\nMode of inheritance for gene: KDM2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KDM2A were set to Neurodevelopmental disorder\nReview for gene: KDM2A was set to GREEN\ngene: KDM2A was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n14 patients with de novo HTZ variants in KDM2A (5 x truncating, 9 x missense)\r\nPresentation with DD, ID (mild), seizures, growth retardation, and dysmorphism.\r\n\r\nFunctional studies:\r\n-patient blood showed aberrant genome wide methylation profile - potential episignature\r\n-HEK293T cells showed altered subcellular localisation of KDM2A\r\n-Drosophila models showed variants caused neurotoxicity \nSources: Other",
"entity_name": "KDM2A",
"entity_type": "gene"
},
{
"created": "2023-07-25T13:19:07.543576+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.214",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PIP5K1C as Green List (high evidence)",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-07-25T13:19:07.531051+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.214",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pip5k1c has been classified as Green List (High Evidence).",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-07-25T13:19:01.062078+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5279",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PIP5K1C as Green List (high evidence)",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-07-25T13:19:01.053154+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5279",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pip5k1c has been classified as Green List (High Evidence).",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-07-25T13:18:10.709530+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.213",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PIP5K1C was added\ngene: PIP5K1C was added to Microcephaly. Sources: Other\nMode of inheritance for gene: PIP5K1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PIP5K1C were set to Neurodevelopmental disorder and microcephaly\nReview for gene: PIP5K1C was set to GREEN\ngene: PIP5K1C was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n9 unrelated patients with de novo missense variants in PIP5K1C (3 x recurrent variants).\r\nPresentation with DD/ID (mod-profound), microcephaly, seizures, visual impairment, and dysmorphism.\r\n\r\nPIP5K1C is one of the phosphoinositolides, which control membrane composition of organelles and varying cellular processes. Patient fibroblasts showed increased PI(4,5)P2 levels, altered PI(4,5)P2 composition of early endosomes, and impaired endocytosis trafficking. Drosophila models showed microcephaly and ocular phenotype. \nSources: Other",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-07-25T13:17:56.248419+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5278",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PIP5K1C was added\ngene: PIP5K1C was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: PIP5K1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PIP5K1C were set to Neurodevelopmental disorder and microcephaly\nReview for gene: PIP5K1C was set to GREEN\ngene: PIP5K1C was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n9 unrelated patients with de novo missense variants in PIP5K1C (3 x recurrent variants).\r\nPresentation with DD/ID (mod-profound), microcephaly, seizures, visual impairment, and dysmorphism.\r\n\r\nPIP5K1C is one of the phosphoinositolides, which control membrane composition of organelles and varying cellular processes. Patient fibroblasts showed increased PI(4,5)P2 levels, altered PI(4,5)P2 composition of early endosomes, and impaired endocytosis trafficking. Drosophila models showed microcephaly and ocular phenotype. \nSources: Other",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-07-25T13:17:50.413935+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1006",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PIP5K1C as Green List (high evidence)",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-07-25T13:17:50.405340+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1006",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pip5k1c has been classified as Green List (High Evidence).",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-07-25T13:17:27.353526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1005",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PIP5K1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder and microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:59:05.796668+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5277",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: Sufficient evidence for upgrade; to: Drosophila KO showed locomotion defects and reduced learning ability. Sufficient evidence for upgrade",
"entity_name": "NSUN6",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:58:48.885725+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1005",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: Sufficient evidence for upgrade; to: Drosophila KO showed locomotion defects and reduced learning ability. Sufficient evidence for upgrade",
"entity_name": "NSUN6",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:54:22.209295+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5277",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NSUN6 as Green List (high evidence)",
"entity_name": "NSUN6",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:54:22.198320+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5277",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nsun6 has been classified as Green List (High Evidence).",
"entity_name": "NSUN6",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:54:12.117749+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1005",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NSUN6 as Green List (high evidence)",
"entity_name": "NSUN6",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:54:12.106384+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1005",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nsun6 has been classified as Green List (High Evidence).",
"entity_name": "NSUN6",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:53:49.867986+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1004",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: NSUN6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NSUN6",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:53:43.761667+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5276",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: NSUN6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "NSUN6",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:47:51.908485+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5276",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: INTS13 as Green List (high evidence)",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:47:51.897969+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5276",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ints13 has been classified as Green List (High Evidence).",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:47:08.635740+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.43",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: INTS13 as Green List (high evidence)",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:47:08.619190+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.43",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ints13 has been classified as Green List (High Evidence).",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:46:44.292340+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.238",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: INTS13 as Green List (high evidence)",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:46:44.279590+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.238",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ints13 has been classified as Green List (High Evidence).",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:46:41.260552+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.125",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: INTS13 as Green List (high evidence)",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:46:41.238955+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.125",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ints13 has been classified as Green List (High Evidence).",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:46:34.166191+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1004",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: INTS13 as Green List (high evidence)",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:46:34.157717+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1004",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ints13 has been classified as Green List (High Evidence).",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:46:17.692187+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.42",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: INTS13 was added\ngene: INTS13 was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTS13 were set to PMID: 36229431\nPhenotypes for gene: INTS13 were set to Oral-facial-digital syndrome\nReview for gene: INTS13 was set to GREEN\ngene: INTS13 was marked as current diagnostic\nAdded comment: 2 families with 4 affected individuals with Oral-facial-digital (OFD) phenotype. Homozygosity mapping and WES found 2 homozygous variants in INTS13 gene. This is a subunit of the Integrator complex, which associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. Variants segregated with disease. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Knockdown in Xenopus embryos leads to motile cilia anomalies. \nSources: Literature",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:46:16.484254+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5275",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: INTS13 was added\ngene: INTS13 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTS13 were set to PMID: 36229431\nPhenotypes for gene: INTS13 were set to Oral-facial-digital syndrome\nReview for gene: INTS13 was set to GREEN\nAdded comment: 2 families with 4 affected individuals with Oral-facial-digital (OFD) phenotype. Homozygosity mapping and WES found 2 homozygous variants in INTS13 gene. This is a subunit of the Integrator complex, which associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. Variants segregated with disease. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Knockdown in Xenopus embryos leads to motile cilia anomalies. \nSources: Literature",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:46:04.499670+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.124",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: INTS13 was added\ngene: INTS13 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTS13 were set to PMID: 36229431\nPhenotypes for gene: INTS13 were set to Oral-facial-digital syndrome\nReview for gene: INTS13 was set to GREEN\ngene: INTS13 was marked as current diagnostic\nAdded comment: 2 families with 4 affected individuals with Oral-facial-digital (OFD) phenotype. Homozygosity mapping and WES found 2 homozygous variants in INTS13 gene. This is a subunit of the Integrator complex, which associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. Variants segregated with disease. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Knockdown in Xenopus embryos leads to motile cilia anomalies. \nSources: Literature",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:45:55.447821+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.237",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: INTS13 was added\ngene: INTS13 was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTS13 were set to PMID: 36229431\nPhenotypes for gene: INTS13 were set to Oral-facial-digital syndrome\nReview for gene: INTS13 was set to GREEN\ngene: INTS13 was marked as current diagnostic\nAdded comment: 2 families with 4 affected individuals with Oral-facial-digital (OFD) phenotype. Homozygosity mapping and WES found 2 homozygous variants in INTS13 gene. This is a subunit of the Integrator complex, which associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. Variants segregated with disease. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Knockdown in Xenopus embryos leads to motile cilia anomalies. \nSources: Literature",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:45:50.579576+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1003",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: INTS13 was added\ngene: INTS13 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTS13 were set to PMID: 36229431\nPhenotypes for gene: INTS13 were set to Oral-facial-digital syndrome\nReview for gene: INTS13 was set to GREEN\ngene: INTS13 was marked as current diagnostic\nAdded comment: 2 families with 4 affected individuals with Oral-facial-digital (OFD) phenotype. Homozygosity mapping and WES found 2 homozygous variants in INTS13 gene. This is a subunit of the Integrator complex, which associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. Variants segregated with disease. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Knockdown in Xenopus embryos leads to motile cilia anomalies. \nSources: Literature",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:26:41.040947+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.278",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SLC20A1 as Green List (high evidence)",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:26:41.030365+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.278",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: slc20a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:26:12.636314+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.277",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SLC20A1 was added\ngene: SLC20A1 was added to Differences of Sex Development. Sources: Literature\nMode of inheritance for gene: SLC20A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC20A1 were set to PMID: 32850778, 27013921\nPhenotypes for gene: SLC20A1 were set to Bladder-Exstrophy-Epispadias Complex (BEEC)\nReview for gene: SLC20A1 was set to GREEN\ngene: SLC20A1 was marked as current diagnostic\nAdded comment: Three individuals with BEEC and animal model supporting role of this gene in urinary tract and urorectal development. \nSources: Literature",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:23:00.613430+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.33",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TUBB4B as Green List (high evidence)",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:23:00.604852+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.33",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tubb4b has been classified as Green List (High Evidence).",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:22:30.661377+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.203",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:22:02.692153+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.157",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:21:29.904985+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.32",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TUBB4B was added\ngene: TUBB4B was added to Ciliary Dyskinesia. Sources: Other\nMode of inheritance for gene: TUBB4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TUBB4B were set to Primary ciliary dyskinesia\nReview for gene: TUBB4B was set to GREEN\nAdded comment: ESHG 2023:\r\nDe novo heterozygous TUBB4B variants found in:\r\n-8 patients with recurrent respiratory infections (PCD phenotype), irregular corpus callosum, and dilated ventricles (suggesting motile cilia anomaly)\r\n-3 patients with retinal dystrophy, SNHL, and PCD respiratory issues \r\n\r\nFunctional studies:\r\n-variants showed decreased cilia number and length, and mislocalisation of dyenin motors\r\n-mouse models had decreased cilia number and length in trachea, and reduction in cilia in choroid plexus cells leading to hydrocephaly \nSources: Other",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2023-07-25T12:21:13.194756+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1002",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:58:33.038216+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.276",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PTCH1 was added\ngene: PTCH1 was added to Differences of Sex Development. Sources: Other\nMode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTCH1 were set to Bladder exstrophy and epispadias complex (BEEC)\nReview for gene: PTCH1 was set to AMBER\nAdded comment: ESHG 2023:\r\n9 individuals with BEEC (WES/Sanger) with 9 x rare HTZ variants in PTCH1 (2 de novo, 7 inherited unaffected parent). No clinical features of Gorlin syndrome and variants not seen in Gorlin syndrome.\r\n\r\nZebrafish models:\r\na) knock out and knock in (1 missense variant) models showed no phenotype\r\nb) co-injection of WT and missense variant led to altered cloaca on D5. \r\nProposed mechanism is dominant negative effect. \nSources: Other",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:57:57.756511+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.276",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PTCH1 was added\ngene: PTCH1 was added to Differences of Sex Development. Sources: Other\nMode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTCH1 were set to Bladder exstrophy and epispadias complex (BEEC)\nReview for gene: PTCH1 was set to AMBER\nAdded comment: ESHG 2023:\r\n9 individuals with BEEC (WES/Sanger) with 9 x rare HTZ variants in PTCH1 (2 de novo, 7 inherited unaffected parent). No clinical features of Gorlin syndrome and variants not seen in Gorlin syndrome.\r\n\r\nZebrafish models:\r\na) knock out and knock in (1 missense variant) models showed no phenotype\r\nb) co-injection of WT and missense variant led to altered cloaca on D5. \r\nProposed mechanism is dominant negative effect. \nSources: Other",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:57:39.342123+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1002",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bladder exstrophy and epispadias complex (BEEC); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:57:35.842171+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.123",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bladder exstrophy and epispadias complex (BEEC); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:14:44.661018+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5274",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DCAF15 as Amber List (moderate evidence)",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:14:44.629681+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5274",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dcaf15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:14:27.049625+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5274",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DCAF15 as Amber List (moderate evidence)",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:14:27.040830+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5274",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dcaf15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:13:33.888483+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.212",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DCAF15 was added\ngene: DCAF15 was added to Microcephaly. Sources: Other\nMode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome\nReview for gene: DCAF15 was set to AMBER\nAdded comment: ESHG 2023:\r\n3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child)\r\nFeatures suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment.\r\n\r\nWES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3). \r\n\r\nProtein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli. \nSources: Other",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:13:32.610715+10:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.41",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DCAF15 was added\ngene: DCAF15 was added to Hypertrichosis syndromes. Sources: Other\nMode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome\nReview for gene: DCAF15 was set to AMBER\nAdded comment: ESHG 2023:\r\n3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child)\r\nFeatures suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment.\r\n\r\nWES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3). \r\n\r\nProtein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli. \nSources: Other",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:13:13.241919+10:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.41",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DCAF15 was added\ngene: DCAF15 was added to Hypertrichosis syndromes. Sources: Other\nMode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome\nReview for gene: DCAF15 was set to AMBER\nAdded comment: ESHG 2023:\r\n3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child)\r\nFeatures suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment.\r\n\r\nWES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3). \r\n\r\nProtein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli. \nSources: Other",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:12:45.983917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1002",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DCAF15 as Amber List (moderate evidence)",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:12:45.967788+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1002",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dcaf15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:12:31.473953+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.212",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DCAF15 was added\ngene: DCAF15 was added to Microcephaly. Sources: Other\nMode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome\nReview for gene: DCAF15 was set to AMBER\nAdded comment: ESHG 2023:\r\n3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child)\r\nFeatures suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment.\r\n\r\nWES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3). \r\n\r\nProtein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli. \nSources: Other",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:12:27.663492+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.123",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DCAF15 as Amber List (moderate evidence)",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:12:27.652540+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.123",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dcaf15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:12:21.235988+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.66",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DCAF15 as Amber List (moderate evidence)",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:12:21.220844+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.66",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dcaf15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:12:18.326477+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5273",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DCAF15 was added\ngene: DCAF15 was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome\nReview for gene: DCAF15 was set to AMBER\nAdded comment: ESHG 2023:\r\n3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child)\r\nFeatures suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment.\r\n\r\nWES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3). \r\n\r\nProtein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli. \nSources: Other",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:12:16.222349+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1001",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DCAF15 was added\ngene: DCAF15 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome\nReview for gene: DCAF15 was set to AMBER\nAdded comment: ESHG 2023:\r\n3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child)\r\nFeatures suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment.\r\n\r\nWES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3). \r\n\r\nProtein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli. \nSources: Other",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:11:39.943160+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.65",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DCAF15 was added\ngene: DCAF15 was added to Growth failure. Sources: Other\nMode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome\nReview for gene: DCAF15 was set to AMBER\nAdded comment: ESHG 2023:\r\n3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child)\r\nFeatures suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment.\r\n\r\nWES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3). \r\n\r\nProtein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli. \nSources: Other",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-25T11:11:32.771784+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.122",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DCAF15 was added\ngene: DCAF15 was added to Fetal anomalies. Sources: Other\nMode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome\nReview for gene: DCAF15 was set to AMBER\nAdded comment: ESHG 2023:\r\n3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child)\r\nFeatures suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment.\r\n\r\nWES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3). \r\n\r\nProtein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli. \nSources: Other",
"entity_name": "DCAF15",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:30:34.811837+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFF as ready",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:30:34.799377+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mff has been classified as Amber List (Moderate Evidence).",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:30:31.965360+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MFF were changed from Leigh-like syndrome, developmental delay, optic atrophy, seizures, sensory-motor neuropathy with SNCV, Leigh syndrome-like MRI brain (T2 high signal of basal ganglia and subthalamic nucleus) to Encephalopathy due to defective mitochondrial and peroxisomal fission 2 MIM# 617086",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:30:13.082774+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MFF were set to ",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:29:57.168658+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MFF as Amber List (moderate evidence)",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:29:57.150284+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mff has been classified as Amber List (Moderate Evidence).",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:29:09.652266+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LYST as ready",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:29:09.643579+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lyst has been classified as Green List (High Evidence).",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:29:07.088453+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LYST were changed from Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy; Chediak-Higashi syndrome, 214500 to Chediak-Higashi syndrome MIM#214500; MONDO:0008963",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:28:47.240242+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LYST were set to ",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:28:04.992426+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KARS as ready",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:28:04.983982+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kars has been classified as Amber List (Moderate Evidence).",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:28:02.545636+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KARS were changed from HMSN; Charcot Marie Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916 to Charcot-Marie-Tooth disease, recessive intermediate, B (MIM#613641; MONDO:0013338)",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:27:41.040111+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KARS were set to ",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:27:06.017450+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KARS as Amber List (moderate evidence)",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:27:05.998390+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kars has been classified as Amber List (Moderate Evidence).",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:24:49.068387+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMBS as ready",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:24:49.050053+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmbs has been classified as Green List (High Evidence).",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:24:44.304137+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMBS were changed from Acute intermittent porphyria; dHMN/dSMA to Porphyria, acute intermittent MIM#176000; MONDO:0008294",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:24:25.574230+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HMBS were set to ",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:23:58.977326+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31205461; Phenotypes: Porphyria, acute intermittent MIM#176000, MONDO:0008294; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:22:25.310892+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADHB as ready",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:22:25.297085+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadhb has been classified as Amber List (Moderate Evidence).",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:22:22.465932+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency, 609015; HMSN to Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy MIM#320300",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:22:01.207817+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HADHB were set to ",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:21:32.003592+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HADHB: Rating: AMBER; Mode of pathogenicity: None; Publications: 37388542; Phenotypes: Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy MIM#320300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:20:40.332709+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HADHB as Amber List (moderate evidence)",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:20:40.321038+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadhb has been classified as Amber List (Moderate Evidence).",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:20:08.510238+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADHA as ready",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:20:08.497169+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadha has been classified as Green List (High Evidence).",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:20:06.218643+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HADHA were changed from Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency to LCHAD deficiency MIM#609016; Mitochondrial trifunctional protein deficiency MIM#609015",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:19:39.408784+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HADHA were set to ",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:18:26.597929+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSN as ready",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:18:26.586380+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gsn has been classified as Green List (High Evidence).",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:18:23.274623+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GSN were changed from Amyloidosis, Finnish type; HMSN to Amyloidosis, Finnish type MIM#105120",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:18:04.408601+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GSN were set to ",
"entity_name": "GSN",
"entity_type": "gene"
}
]
}