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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=787",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=785",
"results": [
{
"created": "2022-08-04T16:23:31.544892+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4865",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ADGRL1 was added\ngene: ADGRL1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ADGRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ADGRL1 were set to PMID: 35907405\nPhenotypes for gene: ADGRL1 were set to Neurodevelopmental disorder, ADGRL1-related (MONDO#0700092)\nReview for gene: ADGRL1 was set to GREEN\nAdded comment: PMID: 35907405 - 9 patients w/ ADHD (3/9), autism (4/9), mild-moderate ID (5/9) and epilepsy (2/9) and facial dysmorphism (7/9). Variants include missense (4) and PTCs (5), and were either de novo (7/9) or inherited from parents with learning difficulties/ID (2/9).\r\n\r\nFunctional studies on both PTCs and missense variants show significant reductions in calcium signalling and surface protein.\r\n\r\nHet null mouse model shows neurological and developmental abnormalities, with hom null mice non-viable. \nSources: Literature",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:23:07.332600+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.457",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: RAC3 as ready",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:23:07.324232+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.457",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: rac3 has been classified as Green List (High Evidence).",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:22:55.817038+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.457",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: RAC3 as Green List (high evidence)",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:22:55.809403+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.457",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: rac3 has been classified as Green List (High Evidence).",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:22:16.445659+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.456",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: RAC3 was added\ngene: RAC3 was added to Callosome. Sources: Literature\nMode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAC3 were set to 35851598\nPhenotypes for gene: RAC3 were set to Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577\nReview for gene: RAC3 was set to GREEN\nAdded comment: Corpus callosal abnormalities reported in 100% of cohort of 10 patients \nSources: Literature",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:20:50.746282+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH9 as ready",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:20:50.737593+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah9 has been classified as Green List (High Evidence).",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:20:20.531577+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAH9 as Green List (high evidence)",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:20:20.519480+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah9 has been classified as Green List (High Evidence).",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:19:13.440736+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAH9 was added\ngene: DNAH9 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH9 were set to 35116053; 35050399; 30471717; 30471718\nPhenotypes for gene: DNAH9 were set to Ciliary dyskinesia, primary, 40 618300; Heterotaxy\nReview for gene: DNAH9 was set to GREEN\nAdded comment: Multiple families reported including with significant CHD. \nSources: Literature",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:17:13.171204+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 35116053, 35050399; Phenotypes: Ciliary dyskinesia, primary, 40 618300, Heterotaxy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2022-08-04T07:40:19.075426+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EHHADH as Amber List (moderate evidence)",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2022-08-04T07:40:19.061390+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ehhadh has been classified as Amber List (Moderate Evidence).",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2022-08-04T07:39:45.659586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EHHADH: Added comment: https://clinmedjournals.org/articles/jcnrc/journal-of-clinical-nephrology-and-renal-care-jcnrc-3-027.pdf\r\n\r\nSecond case report, same variant, de novo. Also, experimental evidence. Assessed as MODERATE by ClinGen.; Changed rating: AMBER",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2022-08-03T16:56:40.838413+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.82",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: NOX1 was added\ngene: NOX1 was added to Inflammatory bowel disease. Sources: Literature\nMode of inheritance for gene: NOX1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: NOX1 were set to PMID: 29091079; 32064493\nPhenotypes for gene: NOX1 were set to Inflammatory bowel disease\nReview for gene: NOX1 was set to AMBER\nAdded comment: 8 IBD patients with early onset of IBD with progressive and severe colonic disease, refractory to conventional therapy and functional studies suggesting variant-dependent loss of NOX1-mediated superoxide generation. However, high frequency of nonsynonymous mutations in NOX1 suggests that NOX1 is not a highly penetrant Mendelian disorder and that other genetic modifiers or environmental factors may contribute to disease pathogenesis \nSources: Literature",
"entity_name": "NOX1",
"entity_type": "gene"
},
{
"created": "2022-08-03T16:13:38.391434+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SARS2 as ready",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2022-08-03T16:13:38.383001+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sars2 has been classified as Green List (High Evidence).",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2022-08-03T16:07:43.589977+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DUOX2 were changed from Thyroid dyshormonogenesis 6 - MIM#607200 to Thyroid dyshormonogenesis 6 - MIM#607200; Inflammatory bowel disease, MONDO:0005265, DUOX2-related",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2022-08-03T16:07:20.120904+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DUOX2 were set to ",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2022-08-03T16:06:58.376219+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DUOX2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2022-08-03T16:06:37.985013+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DUOX2 as Amber List (moderate evidence)",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2022-08-03T16:06:37.952406+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: duox2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2022-08-03T16:06:00.451428+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DUOX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35429653, 27373512, 26301257, 28683258; Phenotypes: Inflammatory bowel disease, MONDO:0005265, DUOX2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2022-08-03T16:04:37.520486+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DUOX2 as ready",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2022-08-03T16:04:37.512577+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: duox2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2022-08-03T16:04:33.252265+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DUOX2 were changed from Colitis to Inflammatory bowel disease, MONDO:0005265, DUOX2-related",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2022-08-03T16:03:52.249561+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DUOX2 as Amber List (moderate evidence)",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2022-08-03T16:03:52.238626+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: duox2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2022-08-03T16:02:42.660552+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DUOX2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2022-08-03T15:59:05.141178+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CWH43 as ready",
"entity_name": "CWH43",
"entity_type": "gene"
},
{
"created": "2022-08-03T15:59:05.128460+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cwh43 has been classified as Red List (Low Evidence).",
"entity_name": "CWH43",
"entity_type": "gene"
},
{
"created": "2022-08-03T15:58:53.907362+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CWH43 was added\ngene: CWH43 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert Review\ncnv tags were added to gene: CWH43.\nMode of inheritance for gene: CWH43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CWH43 were set to 33459505; 34380733\nPhenotypes for gene: CWH43 were set to Hydrocephalus MONDO:0001150, CWH43-related\nReview for gene: CWH43 was set to RED\nAdded comment: Two individuals with recurrent deletion reported. \nSources: Expert Review",
"entity_name": "CWH43",
"entity_type": "gene"
},
{
"created": "2022-08-03T15:56:28.056504+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CWH43 as ready",
"entity_name": "CWH43",
"entity_type": "gene"
},
{
"created": "2022-08-03T15:56:28.044231+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cwh43 has been classified as Red List (Low Evidence).",
"entity_name": "CWH43",
"entity_type": "gene"
},
{
"created": "2022-08-03T15:56:16.190808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CWH43 were changed from normal pressure hydrocephalus to Hydrocephalus MONDO:0001150, CWH43-related",
"entity_name": "CWH43",
"entity_type": "gene"
},
{
"created": "2022-08-03T15:55:42.570535+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CWH43 as Red List (low evidence)",
"entity_name": "CWH43",
"entity_type": "gene"
},
{
"created": "2022-08-03T15:55:42.558639+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cwh43 has been classified as Red List (Low Evidence).",
"entity_name": "CWH43",
"entity_type": "gene"
},
{
"created": "2022-08-03T15:54:00.882137+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cnv tag was added to gene: CWH43.",
"entity_name": "CWH43",
"entity_type": "gene"
},
{
"created": "2022-08-03T15:53:48.659563+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CWH43: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrocephalus MONDO:0001150, CWH43-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CWH43",
"entity_type": "gene"
},
{
"created": "2022-08-03T10:27:01.700119+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.13",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SARS2 as Green List (high evidence)",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2022-08-03T10:27:01.688245+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.13",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sars2 has been classified as Green List (High Evidence).",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2022-08-03T10:26:56.402302+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SARS2 was added\ngene: SARS2 was added to Pulmonary Arterial Hypertension. Sources: Literature\nMode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SARS2 were set to 24034276; 21255763; 33751860\nPhenotypes for gene: SARS2 were set to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845\nReview for gene: SARS2 was set to GREEN\nAdded comment: HUPRA syndrome is a severe autosomal recessive multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Six patients from 4 unrelated families reported - only 1 patient did not have PAH. \nSources: Literature",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2022-08-02T09:59:40.178643+10:00",
"panel_name": "Limb and Digital Malformations SuperPanel",
"panel_id": 3730,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-08-02T07:51:06.441679+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.80",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: DUOX2 was added\ngene: DUOX2 was added to Inflammatory bowel disease. Sources: Literature\nMode of inheritance for gene: DUOX2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: DUOX2 were set to PMID: 35429653; 27373512; 26301257; 28683258\nPhenotypes for gene: DUOX2 were set to Colitis\nReview for gene: DUOX2 was set to AMBER\nAdded comment: 4 case reports of early onset colitis (1-4y) associated with monoallelic or biallelic variants in NOX2. Also reported in 15 members of the same Ashkenazi Jewish family with a high incidence of adult-onset CD. \nSources: Literature",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2022-08-01T12:27:39.236336+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.196",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "gene: CWH43 was added\ngene: CWH43 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CWH43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CWH43 were set to PMID: 33459505; 34380733\nPhenotypes for gene: CWH43 were set to normal pressure hydrocephalus\nPenetrance for gene: CWH43 were set to Incomplete\nReview for gene: CWH43 was set to AMBER\nAdded comment: Sources: Literature",
"entity_name": "CWH43",
"entity_type": "gene"
},
{
"created": "2022-08-01T10:50:03.395286+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADGRA3 as ready",
"entity_name": "ADGRA3",
"entity_type": "gene"
},
{
"created": "2022-08-01T10:50:03.383353+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgra3 has been classified as Red List (Low Evidence).",
"entity_name": "ADGRA3",
"entity_type": "gene"
},
{
"created": "2022-08-01T10:49:57.273005+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADGRA3 were changed from retinal dystrophy to Retinitis pigmentosa, MONDO:0019200, ADGRA3-related",
"entity_name": "ADGRA3",
"entity_type": "gene"
},
{
"created": "2022-08-01T10:49:35.253971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADGRA3 as ready",
"entity_name": "ADGRA3",
"entity_type": "gene"
},
{
"created": "2022-08-01T10:49:35.238284+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgra3 has been classified as Red List (Low Evidence).",
"entity_name": "ADGRA3",
"entity_type": "gene"
},
{
"created": "2022-08-01T10:49:26.115585+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADGRA3 was added\ngene: ADGRA3 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: ADGRA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADGRA3 were set to 23105016\nPhenotypes for gene: ADGRA3 were set to Retinitis pigmentosa, MONDO:0019200, ADGRA3-related\nReview for gene: ADGRA3 was set to RED\nAdded comment: Only one report of a missense that is a VUS identified as a candidate through autozygome analysis (PMID: 23105016) \nSources: Expert Review",
"entity_name": "ADGRA3",
"entity_type": "gene"
},
{
"created": "2022-07-30T08:18:07.051863+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAF8 were changed from Neurodevelopmental disorder, MONDO:0700092, TAF8-related to Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-30T08:17:36.714970+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TAF8: Changed phenotypes: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-30T08:17:21.530001+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAF8 were changed from Neurodevelopmental disorder, MONDO:0700092, TAF8-related to Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-30T08:16:51.608764+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAF8 were changed from Neurodevelopmental disorder, MONDO:0700092, TAF8-related to Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-30T08:16:48.620003+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TAF8: Changed phenotypes: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-30T08:16:25.376411+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TAF8: Changed phenotypes: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-30T08:16:11.706042+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAF8 were changed from Neurodevelopmental disorder, MONDO:0700092, TAF8-related to Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-30T08:15:50.344385+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TAF8: Changed phenotypes: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-29T15:54:16.388349+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARID1A as ready",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2022-07-29T15:54:16.374282+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arid1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2022-07-29T15:54:10.341706+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARID1A as Amber List (moderate evidence)",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2022-07-29T15:54:10.331009+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arid1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2022-07-29T15:53:38.511332+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARID1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome 2 #614607; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2022-07-29T15:52:37.260690+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX2 as ready",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2022-07-29T15:52:37.249590+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2022-07-29T15:52:33.054319+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOX2 as Amber List (moderate evidence)",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2022-07-29T15:52:33.046678+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2022-07-29T15:52:06.491106+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic nerve hypoplasia and abnormalities of the central nervous system #206900, Microphthalmia, syndromic 3 #206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2022-07-29T14:57:22.517169+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.4",
"user_name": "Di Milnes",
"item_type": "entity",
"text": "gene: ARID1A was added\ngene: ARID1A was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature\nMode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARID1A were set to 35885948\nPhenotypes for gene: ARID1A were set to Coffin-Siris syndrome 2 #614607\nReview for gene: ARID1A was set to AMBER\nAdded comment: single case SOD (absent septum pellucidum, absent corpus callosum, ventriculomegaly, aqueductal stenosis ONH), a ventricular septal defect and a patent foramen ovale, 13 pairs of ribs, bilateral clinodactyly, single palmar crease, broad large toe with hypoplastic nail, cleft palate, choanal atresia, seizures, apnoea, and dysmorphic facial features, including down-slanting palpebral fissures, long columella, low-set and posteriorly rotated ears, depressed nasal bridge, scant hair due to premature birth; he died at 6 weeks of age.\r\nMosaic truncating variant confirmed de novo Sanger sequencing (33% exome reads, lower peak on Sanger) \nSources: Literature",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2022-07-29T14:46:08.336526+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.4",
"user_name": "Di Milnes",
"item_type": "entity",
"text": "gene: SOX2 was added\ngene: SOX2 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature\nMode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOX2 were set to 35885948\nPhenotypes for gene: SOX2 were set to Optic nerve hypoplasia and abnormalities of the central nervous system #206900; Microphthalmia, syndromic 3 #206900\nReview for gene: SOX2 was set to AMBER\nAdded comment: single case SOD (mild ONH, absent septum pellucidum, hypoplasia corpus callosum, dilated lateral ventricles de novo trio WES confirmed Sanger sequencing \nSources: Literature",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2022-07-29T10:07:41.360265+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POU3F3 were changed from Snijders Blok-Fisher syndrome MIM#618604 to Snijders Blok-Fisher syndrome MIM#618604",
"entity_name": "POU3F3",
"entity_type": "gene"
},
{
"created": "2022-07-29T10:07:22.223261+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POU3F3 were changed from no OMIM number yet. to Snijders Blok-Fisher syndrome MIM#618604",
"entity_name": "POU3F3",
"entity_type": "gene"
},
{
"created": "2022-07-29T10:06:50.685319+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POU3F3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Snijders Blok-Fisher syndrome MIM#618604; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POU3F3",
"entity_type": "gene"
},
{
"created": "2022-07-29T10:06:24.078468+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POU3F3 were changed from Intellectual disability to Snijders Blok-Fisher syndrome MIM#618604",
"entity_name": "POU3F3",
"entity_type": "gene"
},
{
"created": "2022-07-29T10:06:01.274011+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POU3F3: Changed phenotypes: Snijders Blok-Fisher syndrome MIM#618604",
"entity_name": "POU3F3",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:33:55.358532+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ROBO4 were changed from bicuspid aortic valve; ascending aortic aneurysm; ascending aorta dilatation to Aortic valve disease 8, MIM# 618496; bicuspid aortic valve; ascending aortic aneurysm; ascending aorta dilatation",
"entity_name": "ROBO4",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:33:24.846576+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ROBO4 as Amber List (moderate evidence)",
"entity_name": "ROBO4",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:33:24.838539+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: robo4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ROBO4",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:32:58.502761+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ROBO4",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:32:55.090993+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ROBO4: Added comment: LoF variants in this gene have high frequency in gnomad. Only two families reported. Functional data is not entirely convincing. May be a susceptibility factor to a relatively common phenotype (bicuspid aortic valve).; Changed rating: AMBER; Changed publications: 30455415; Changed phenotypes: Aortic valve disease 8, MIM# 618496, bicuspid aortic valve, ascending aortic aneurysm, ascending aorta dilatation; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ROBO4",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:31:53.500352+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ROBO4 as Amber List (moderate evidence)",
"entity_name": "ROBO4",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:31:53.488146+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: robo4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ROBO4",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:30:13.225018+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ROBO4",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:30:05.477891+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ROBO4: Added comment: LoF variants in this gene have high frequency in gnomad.\r\n\r\nOnly two families reported. Functional data is not entirely convincing. May be a susceptibility factor to a relatively common phenotype (bicuspid aortic valve).; Changed rating: AMBER",
"entity_name": "ROBO4",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:28:32.351223+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ROBO4 were changed from bicuspid aortic valve; ascending aortic aneurysm; ascending aorta dilatation to Aortic valve disease 8, MIM#618496; bicuspid aortic valve; ascending aortic aneurysm; ascending aorta dilatation",
"entity_name": "ROBO4",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:28:07.801756+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ROBO4 were set to 30455415",
"entity_name": "ROBO4",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:27:43.954678+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ROBO4 as Amber List (moderate evidence)",
"entity_name": "ROBO4",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:27:43.942671+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: robo4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ROBO4",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:26:42.991432+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2B1 as ready",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:26:42.982159+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b1 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:26:03.621987+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF2B1 as Green List (high evidence)",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:26:03.607076+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b1 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:25:53.342065+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2B1 was added\ngene: EIF2B1 was added to Monogenic Diabetes. Sources: Expert Review\nMode of inheritance for gene: EIF2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF2B1 were set to 31882561\nPhenotypes for gene: EIF2B1 were set to Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related\nReview for gene: EIF2B1 was set to GREEN\nAdded comment: PMID: 31882561: heterozygous de novo variants in 5 patients with permanent neonatal/early onset diabetes and transient liver dysfunction (4 missense, 1 stop-loss). No functional studies performed, missense clustered within a small region (p.Leu34-Ser77). \nSources: Expert Review",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:24:27.792895+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2B1 were changed from leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy to leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy; Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:24:02.344876+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF2B1 were set to 11835386; 26285592; 15776425; 18263758; 25843247; 25761052; 30014503",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:22:01.134595+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF2B1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:21:40.760877+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:19:57.287406+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCM10 as Amber List (moderate evidence)",
"entity_name": "MCM10",
"entity_type": "gene"
}
]
}