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"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=485",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=483",
"results": [
{
"created": "2024-03-07T11:28:43.361815+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1580",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: NIT1 was added\ngene: NIT1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NIT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NIT1 were set to 38430071\nPhenotypes for gene: NIT1 were set to Cerebrovascular disorder, NIT1-related (MONDO:0011057)\nPenetrance for gene: NIT1 were set to unknown\ngene: NIT1 was marked as current diagnostic\nAdded comment: 5 unrelated families reported with recessively inherited cerebral small vessel disease had compound hetereozygous or homozygous variants in NIT1. 1 family (3 siblings) had p.(Ala68*) in trans with p.(Arg243Trp), the remaining 4 families (1 individual each) were all homozygous for p.(Arg243Trp).\r\n\r\nPatients presented in mid-adulthood with progressive movement disorders (e.g. dystonia, chorea, bradykinesia and tremor, gait disturbance, dysarthria) and had abnormal brain MRI findings (honeycomb appearance of the basal ganglia-thalamus complex, due to numerous strongly dilated PVS). 3 patients had non-lobar intracerebral hemorrhage. Slowly progressive cognitive decline was also a key feature.\r\n\r\nMetabolic analysis in urine confirmed loss of NIT1 enzymatic function.\r\n\r\nNote p.(Arg243Trp) has 1 homozygote in gnomAD v4, but permitted due to later presentation in reported patients. \nSources: Literature",
"entity_name": "NIT1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:28:33.752684+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1580",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: DENND5B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38387458; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), DENND5B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "DENND5B",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:27:53.295662+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.11",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "gene: TUBA4A was added\ngene: TUBA4A was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBA4A were set to PMID: 38413182\nPhenotypes for gene: TUBA4A were set to Congenital myopathy MONDO:0019952\nReview for gene: TUBA4A was set to AMBER\nAdded comment: One novel TUBA4A variant in two unrelated Chinese patients with sporadic congenital myopathy. \r\n\r\nIdentified candidate genes using laser capture micro dissection, proteomics, WES, clinical data, myopathological changes, electrophysiological exams and thigh muscle MRIs.\r\n\r\nThe variant is de novo in both patients, c.679C>T, p.(Leu227Phe). The prominent myopathological changes in both patients were muscle fibres with focal myofibrillar disorganisation and rimmed vacuoles. Immunofluorescence showed ubiqution-positive TUBA4A protein aggregates in the muscle fibres with rimmed vacuoles. Overexpression of Leu227Phe resulted in cytoplasmic aggregates which colocalised with ubiquitin in cellular model. \r\n\r\nPatient 1 is 14yo and had delayed motor development milestones since infancy. Myopathic face, high-arched palate, waddling gait, winged scapula and muscle weakness in four limbs with lower extremities and proximal muscle more severely affected. Follow up at 14yo showed slight improvement in motor function compared with 3yo.\r\n\r\nPatient 2 is 6yo and presented with motor retardation since birth. At 3yo, presented with mild ptosis and ophthalmoparesis, high-arched palate and muscle weakness involving both proximal and distal in all limbs.\r\n\r\nNo likely pathogenic variants in 116 other protein-encoding genes. Variants confirmed by Sanger sequencing and absent from gnomAD. ACMG predicts likely pathogenic classification. \nSources: Literature",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:26:22.858766+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.16",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: NIT1 as ready",
"entity_name": "NIT1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:26:22.850957+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.16",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: nit1 has been classified as Green List (High Evidence).",
"entity_name": "NIT1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:26:14.933089+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.16",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: NIT1 as Green List (high evidence)",
"entity_name": "NIT1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:26:14.921037+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.16",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: nit1 has been classified as Green List (High Evidence).",
"entity_name": "NIT1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:23:49.585697+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RREB1 as ready",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:23:49.576838+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rreb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:23:42.622594+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RREB1 as Amber List (moderate evidence)",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:23:42.608040+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rreb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:23:14.885072+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5711",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: POP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 38351533; Phenotypes: Anauxetic dysplasia 2, MIM#617396; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "POP1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:23:14.146342+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.217",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38424183; Phenotypes: Dyssegmental dysplasia, Rolland-Desbuquois type (MONDO:0009139); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSPG2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:22:45.918771+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RREB1 was added\ngene: RREB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RREB1 were set to 32938917; 38332451\nPhenotypes for gene: RREB1 were set to Rasopathy, MONDO:0021060, RREB1-related\nReview for gene: RREB1 was set to AMBER\nAdded comment: PMID 32938917: Single individual reported with Noonan syndrome-like features and a deletion encompassing RREB1. Overlapping deletions in publicly reported databases examined, and RREB1 postulated to be the key gene. Rreb1 hemizygous mice display orbital hypertelorism and age dependent cardiac hypertrophy. RREB1 recruits SIN3A and KDM1A to an RRE in target promoters in human and murine cells to control histone H3K4 methylation of MAPK pathway genes. In summary, single well phenotyped individual with a CNV and experimental data to support gene-disease association. \r\n\r\nPMID 38332451: de novo LoF variant in an individual with phenotype consistent with the previous reports. \nSources: Literature",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:21:57.331610+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.15",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: NIT1 was added\ngene: NIT1 was added to Stroke. Sources: Literature\nMode of inheritance for gene: NIT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NIT1 were set to 38430071\nPhenotypes for gene: NIT1 were set to Cerebrovascular disorder, NIT1-related (MONDO:0011057)\nPenetrance for gene: NIT1 were set to unknown\nReview for gene: NIT1 was set to GREEN\ngene: NIT1 was marked as current diagnostic\nAdded comment: 5 unrelated families reported with recessively inherited cerebral small vessel disease had compound hetereozygous or homozygous variants in NIT1. 1 family (3 siblings) had p.(Ala68*) in trans with p.(Arg243Trp), the remaining 4 families (1 individual each) were all homozygous for p.(Arg243Trp).\r\n\r\nPatients presented in mid-adulthood with progressive movement disorders (e.g. dystonia, chorea, bradykinesia and tremor, gait disturbance, dysarthria) and had abnormal brain MRI findings. 3 patients had non-lobar intracerebral hemorrhage. Metabolic analysis in urine confirmed loss of NIT1 enzymatic function.\r\n\r\nNote p.(Arg243Trp) has 1 homozygote in gnomAD v4, but permitted due to later presentation in reported patients. \nSources: Literature",
"entity_name": "NIT1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:19:38.494470+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RREB1 were changed from Noonan syndrome-like disorder to Rasopathy, MONDO:0021060, RREB1-related",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:18:30.129710+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RREB1 were set to 32938917",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:17:45.906251+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5710",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: FEZF2 as ready",
"entity_name": "FEZF2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:17:45.897830+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5710",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: fezf2 has been classified as Green List (High Evidence).",
"entity_name": "FEZF2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:17:38.637579+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5710",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: FEZF2 as Green List (high evidence)",
"entity_name": "FEZF2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:17:38.625317+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5710",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: fezf2 has been classified as Green List (High Evidence).",
"entity_name": "FEZF2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:17:29.166550+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RREB1 as Amber List (moderate evidence)",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:17:29.154750+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rreb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:16:42.158974+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RREB1: Added comment: PMID 38332451: de novo LoF variant in an individual with phenotype consistent with the previous reports.; Changed rating: AMBER; Changed publications: 32938917, 38332451; Changed phenotypes: Rasopathy, MONDO:0021060, RREB1-related",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:16:41.814139+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5709",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: FEZF2 was added\ngene: FEZF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FEZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FEZF2 were set to 38425142\nPhenotypes for gene: FEZF2 were set to neurodevelopmental disorder MONDO:0700092, FEZF2-related\nReview for gene: FEZF2 was set to GREEN\ngene: FEZF2 was marked as current diagnostic\nAdded comment: - 7 indiv but 1 has whole gene deletion and 6x SNV (4x PTCs and 2x same missense Arg344Cys)\r\n- of the 6x SNV, 4x de novo + 1x from affected father\r\n- all have ID/ASD\r\n- 1x seizures\r\n- 1x hypotonia\r\n- 1x motor coordination disorder\r\n- 2x enuresis after 7yo \nSources: Literature",
"entity_name": "FEZF2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:16:40.432001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1580",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: FEZF2 as ready",
"entity_name": "FEZF2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:16:40.413359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1580",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: fezf2 has been classified as Green List (High Evidence).",
"entity_name": "FEZF2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:16:23.000506+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RREB1 were set to 32938917",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:16:20.879493+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1580",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: FEZF2 as Green List (high evidence)",
"entity_name": "FEZF2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:16:20.869947+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1580",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: fezf2 has been classified as Green List (High Evidence).",
"entity_name": "FEZF2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:15:45.731126+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RREB1 as Amber List (moderate evidence)",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:15:45.713489+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rreb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:15:28.925770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RREB1: Added comment: PMID 38332451: de novo LoF variant in an individual with phenotype consistent with the previous reports.; Changed rating: AMBER; Changed publications: 32938917, 38332451; Changed phenotypes: Rasopathy, MONDO:0021060, RREB1-related",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:15:20.435173+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1578",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: FEZF2 was added\ngene: FEZF2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FEZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FEZF2 were set to 38425142\nPhenotypes for gene: FEZF2 were set to neurodevelopmental disorder MONDO:0700092, FEZF2-related\nReview for gene: FEZF2 was set to GREEN\ngene: FEZF2 was marked as current diagnostic\nAdded comment: - 7 indiv but 1 has whole gene deletion and 6x SNV (4x PTCs and 2x same missense Arg344Cys)\r\n- of the 6x SNV, 4x de novo + 1x from affected father\r\n- all have ID/ASD\r\n- 1x seizures\r\n- 1x hypotonia\r\n- 1x motor coordination disorder\r\n- 2x enuresis after 7yo \nSources: Literature",
"entity_name": "FEZF2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:13:33.488516+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZFX as ready",
"entity_name": "ZFX",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:13:33.480563+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfx has been classified as Green List (High Evidence).",
"entity_name": "ZFX",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:13:26.326454+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZFX were changed from X-linked neurodevelopmental disorder with recurrent facial gestalt to Neurodevelopmental disorder, MONDO:0700092, ZFX-related",
"entity_name": "ZFX",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:12:48.673955+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZFX as Green List (high evidence)",
"entity_name": "ZFX",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:12:48.663122+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfx has been classified as Green List (High Evidence).",
"entity_name": "ZFX",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:12:32.491043+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZFX was added\ngene: ZFX was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZFX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ZFX were set to 26350204; 26740508; 38325380\nPhenotypes for gene: ZFX were set to Neurodevelopmental disorder, MONDO:0700092, ZFX-related\nReview for gene: ZFX was set to GREEN\nAdded comment: A single ZFX variant has been associated with a neurodevelopmental disorder, that has a Rett syndrome-like phenotype disorder, in a 14 year old male. The ZFX variant was allelic with another X-linked variant in SHROOM4. These variants were inherited from the mother, who had random X inactivation pattern (PMID: 26740508).\r\nPMID: 38325380 reports 11 ZFX variants in 18 subjects from 16 unrelated families (14 males and 4 females) with an X-linked neurodevelopmental disorder with recurrent facial gestalt. Seven variants were truncating and the remaining were missense variants within the Zinc finger array. In the pedigree of family 6 (figure 3, PMID: 38325380), it was apparent that there were female carriers of the ZFX variant (GRCh38 chrX: 24229396A>G, c.2438A>G, p.Tyr774Cys) with hyperparathyroidism and two affected males and one affected female, with the neurodevelopmental disorder. It appeared that skewed X-inactivation in the female carriers was responsible for the different phenotypic features. The association between ZFX variants and a novel neurodevelopmental disorder, was further supported by functional studies showing altered transcriptional activity in missense variants and altered behavior in a zebrafish loss-of-function model. \nSources: Literature",
"entity_name": "ZFX",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:09:03.568241+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZFX as ready",
"entity_name": "ZFX",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:09:03.498540+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfx has been classified as Green List (High Evidence).",
"entity_name": "ZFX",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:08:50.751896+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZFX as Green List (high evidence)",
"entity_name": "ZFX",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:08:50.738175+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfx has been classified as Green List (High Evidence).",
"entity_name": "ZFX",
"entity_type": "gene"
},
{
"created": "2024-03-07T08:34:49.197654+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NARS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, MIM# 619091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2024-03-07T08:33:50.617921+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: NARS: AR disorder: assessed as LIMITED by ClinGen (borderline MODERATE).",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2024-03-07T08:33:35.802210+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: NARS: AR disorder: assessed as LIMITED by ClinGen (borderline MODERATE).",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2024-03-07T08:33:16.934631+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: NARS: AR disorder: assessed as LIMITED by ClinGen (borderline MODERATE).",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2024-03-07T08:32:45.611715+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NARS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, MIM# 619091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2024-03-07T08:31:31.787549+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: NARS: AR disorder: assessed as LIMITED by ClinGen (borderline MODERATE).",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2024-03-06T13:34:31.787612+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STX4 were changed from Non-syndromic genetic hearing loss, MONDO:0019497, STX4-related. to Deafness, autosomal recessive 123, MIM#\t620745",
"entity_name": "STX4",
"entity_type": "gene"
},
{
"created": "2024-03-06T10:56:29.556819+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DES was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2024-03-05T21:23:46.271600+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.234",
"user_name": "Natalie Lim",
"item_type": "entity",
"text": "gene: PAH was added\ngene: PAH was added to Dystonia - complex. Sources: Expert Review\nMode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PAH were set to PMID: 25614310, PMID: 15390012, PMID: 30369906\nPhenotypes for gene: PAH were set to Phenylketonuria MIM#261600\nReview for gene: PAH was set to GREEN\nAdded comment: Reports of parkinsonism and dystonia have been documented as delayed manifestations amongst PKU patients although rare. \nSources: Expert Review",
"entity_name": "PAH",
"entity_type": "gene"
},
{
"created": "2024-03-05T04:15:44.688373+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5706",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ZFX was added\ngene: ZFX was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ZFX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: ZFX were set to 26350204; 26740508; 38325380\nPhenotypes for gene: ZFX were set to X-linked neurodevelopmental disorder with recurrent facial gestalt\nReview for gene: ZFX was set to GREEN\nAdded comment: To date, germline variants in ZFX have not been associated with a phenotype in OMIM or Gen2Phen.\r\nA single ZFX variant has been associated with a neurodevelopmental disorder, that has a Rett syndrome-like phenotype disorder, in a 14 year old male. The ZFX variant was allelic with another X-linked variant in SHROOM4. These variants were inherited from the mother, who had random X inactivation pattern (PMID: 26740508).\r\nPMID: 38325380 reports 11 ZFX variants in 18 subjects from 16 unrelated families (14 males and 4 females) with an X-linked neurodevelopmental disorder with recurrent facial gestalt. Seven variants were truncating and the remaining were missense variants within the Zinc finger array. In the pedigree of family 6 (figure 3, PMID: 38325380), it was apparent that there were female carriers of the ZFX variant (GRCh38 chrX: 24229396A>G, c.2438A>G, p.Tyr774Cys) with hyperparathyroidism and two affected males and one affected female, with the neurodevelopmental disorder. It appeared that skewed X-inactivation in the female carriers was responsible for the different phenotypic features. The association between ZFX variants and a novel neurodevelopmental disorder, was further supported by functional studies showing altered transcriptional activity in missense variants and altered behavior in a zebrafish loss-of-function model. \nSources: Literature",
"entity_name": "ZFX",
"entity_type": "gene"
},
{
"created": "2024-03-04T12:39:06.352816+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.118",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: ELF4 was added\ngene: ELF4 was added to Inflammatory bowel disease. Sources: Literature\nMode of inheritance for gene: ELF4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: ELF4 were set to PMID: 38231408\nPhenotypes for gene: ELF4 were set to Inflammatory bowel disease\nReview for gene: ELF4 was set to GREEN\nAdded comment: Cohort of 14 patients from 13 families with many presenting with gastrointestinal inflammation and ulceration. Frequently patients had been labelled with IBD prior to diagnosis of ELF4. \nSources: Literature",
"entity_name": "ELF4",
"entity_type": "gene"
},
{
"created": "2024-03-02T17:24:22.406970+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PI4K2A were changed from complex neurodevelopmental disorder with motor features, PI4K2A-related, MONDO:0100516 to Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, MIM# 620732",
"entity_name": "PI4K2A",
"entity_type": "gene"
},
{
"created": "2024-03-02T17:23:37.924451+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PI4K2A were changed from complex neurodevelopmental disorder with motor features, PI4K2A-related, MONDO:0100516 to Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, MIM# 620732",
"entity_name": "PI4K2A",
"entity_type": "gene"
},
{
"created": "2024-03-02T17:22:44.772535+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PI4K2A were changed from complex neurodevelopmental disorder with motor features, PI4K2A-related, MONDO:0100516; Cutis laxa, intellectual disability, movement disorder to Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, MIM#\t620732; Cutis laxa, intellectual disability, movement disorder",
"entity_name": "PI4K2A",
"entity_type": "gene"
},
{
"created": "2024-03-01T16:07:37.418973+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALDH3A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2024-03-01T08:31:00.926734+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1572",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KLF14 as ready",
"entity_name": "KLF14",
"entity_type": "gene"
},
{
"created": "2024-03-01T08:31:00.915071+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1572",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: klf14 has been classified as Red List (Low Evidence).",
"entity_name": "KLF14",
"entity_type": "gene"
},
{
"created": "2024-03-01T08:30:53.741452+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1572",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KLF14 as Red List (low evidence)",
"entity_name": "KLF14",
"entity_type": "gene"
},
{
"created": "2024-03-01T08:30:53.733681+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1572",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: klf14 has been classified as Red List (Low Evidence).",
"entity_name": "KLF14",
"entity_type": "gene"
},
{
"created": "2024-03-01T08:18:37.907532+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1571",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag STR tag was added to gene: NOTCH2NL.",
"entity_name": "NOTCH2NL",
"entity_type": "gene"
},
{
"created": "2024-03-01T07:54:32.831398+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1571",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: NLRP12 were set to 18230725; 21360512; 24064030; 27633793",
"entity_name": "NLRP12",
"entity_type": "gene"
},
{
"created": "2024-02-29T18:23:42.845447+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THSD1 as ready",
"entity_name": "THSD1",
"entity_type": "gene"
},
{
"created": "2024-02-29T18:23:42.837673+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thsd1 has been classified as Green List (High Evidence).",
"entity_name": "THSD1",
"entity_type": "gene"
},
{
"created": "2024-02-29T18:23:37.989987+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THSD1 as Green List (high evidence)",
"entity_name": "THSD1",
"entity_type": "gene"
},
{
"created": "2024-02-29T18:23:37.977084+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thsd1 has been classified as Green List (High Evidence).",
"entity_name": "THSD1",
"entity_type": "gene"
},
{
"created": "2024-02-29T18:23:26.045049+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THSD1 was added\ngene: THSD1 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: THSD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: THSD1 were set to 33569873; 27895300\nPhenotypes for gene: THSD1 were set to Lymphatic malformation 13, MIM# 620244\nReview for gene: THSD1 was set to GREEN\nAdded comment: PMID: 33569873 - 1 fetus with a homozygous PTC and nonimmune hydrops fetalis (NIHF), congenital heart disease and hemangiomas. FHx of 1/3 triplets with severe hydrops fetalis, not sequenced.\r\n- Paper reviews previous NIHF cases and reports another homozygous PTC in two families ( and a recurring homozygous missense (p.Cys206Tyr) in three families.\r\n\r\n\r\nPMID: 27895300- Mouse model has hydrocephaly with poor perfusion. \nSources: Expert Review",
"entity_name": "THSD1",
"entity_type": "gene"
},
{
"created": "2024-02-29T17:24:52.463496+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5705",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20694012, 20543203, 11315197; Phenotypes: CBL-related disorder MONDO:0013308; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2024-02-29T16:55:54.676268+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5705",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476654, 33985586; Phenotypes: developmental and epileptic encephalopathy, 42 MONDO:0014917; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2024-02-29T16:55:10.820614+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5705",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 24284555, 20598281, 23188110, 24080142, PMID: 3479531; Phenotypes: hereditary spastic paraplegia 55 MONDO:0014020; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2024-02-29T16:54:26.490356+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5705",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: None; Publications: 7550325, 9375914, 37751899, 32741581; Phenotypes: biotinidase deficiency MONDO:0009665; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2024-02-29T16:53:41.477336+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5705",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12362029, 26072926, 28916377; Phenotypes: congenital generalized lipodystrophy type 2 MONDO:0010020; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2024-02-29T16:39:56.437350+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1570",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PCSK2 as Red List (low evidence)",
"entity_name": "PCSK2",
"entity_type": "gene"
},
{
"created": "2024-02-29T16:39:56.423626+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1570",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pcsk2 has been classified as Red List (Low Evidence).",
"entity_name": "PCSK2",
"entity_type": "gene"
},
{
"created": "2024-02-29T16:01:01.964187+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5705",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 9777342, 17314340, 11528392, 30582773, 30582773, 25914718; Phenotypes: Bjornstad syndrome MONDO:0009872; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2024-02-29T16:00:13.031005+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5705",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 7672509, 11509994, 14742428; Phenotypes: maple syrup urine disease type 1B MONDO:0023692; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2024-02-29T15:59:31.405065+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5705",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 7883996, 7672509, 34288399; Phenotypes: maple syrup urine disease type 1A MONDO:0023691; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2024-02-29T15:58:51.498771+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5705",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: BBS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11285252, 11567139; Phenotypes: Bardet-Biedl syndrome 2 MONDO:0014432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2024-02-29T15:58:21.455449+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5705",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: None; Publications: 17160889, 20827784; Phenotypes: Bardet-Biedl syndrome 12 MONDO:0014440; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2024-02-29T15:57:43.465039+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5705",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: BBS10: Rating: GREEN; Mode of pathogenicity: None; Publications: 16582908, 20805367, 27245532; Phenotypes: Phenotype: Bardet-Biedl syndrome 10 MONDO:0014438; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2024-02-29T15:56:36.558461+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5705",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12118255, 12677556, 12567324; Phenotypes: Bardet-Biedl syndrome 1 MONDO:0008854; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2024-02-29T14:27:17.147003+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1569",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Mitchell-Riley syndrome is AR and MODY is AD",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2024-02-29T14:27:17.125320+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1569",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: RFX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2024-02-29T13:53:55.648107+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1568",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag STR tag was added to gene: PPP2R2B.",
"entity_name": "PPP2R2B",
"entity_type": "gene"
},
{
"created": "2024-02-29T13:44:41.584963+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1568",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag STR tag was added to gene: SAMD12.",
"entity_name": "SAMD12",
"entity_type": "gene"
},
{
"created": "2024-02-29T11:43:50.165718+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: APPL1 were set to 26073777",
"entity_name": "APPL1",
"entity_type": "gene"
},
{
"created": "2024-02-29T11:43:41.797247+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: APPL1 as Red List (low evidence)",
"entity_name": "APPL1",
"entity_type": "gene"
},
{
"created": "2024-02-29T11:43:41.784598+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: appl1 has been classified as Red List (Low Evidence).",
"entity_name": "APPL1",
"entity_type": "gene"
},
{
"created": "2024-02-29T11:43:32.971849+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "APPL1",
"entity_type": "gene"
},
{
"created": "2024-02-29T11:43:29.905428+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: APPL1: Added comment: PMID: 36208030 - a study using the UK Biobank comparing individuals with and without diabetes found LoF variants in APPL1 were ‘Inconsistent’ with being high penetrant for diabetes (failed both statistical criteria - enrichment & comparison to maximum credible allele frequency). Refutes previous study.; Changed rating: RED; Changed publications: 26073777, 36208030",
"entity_name": "APPL1",
"entity_type": "gene"
},
{
"created": "2024-02-29T11:42:46.496465+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1568",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: APPL1 were set to 26073777",
"entity_name": "APPL1",
"entity_type": "gene"
},
{
"created": "2024-02-29T11:42:07.281474+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1567",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: APPL1 as Red List (low evidence)",
"entity_name": "APPL1",
"entity_type": "gene"
},
{
"created": "2024-02-29T11:42:07.270521+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1567",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: appl1 has been classified as Red List (Low Evidence).",
"entity_name": "APPL1",
"entity_type": "gene"
},
{
"created": "2024-02-29T11:41:48.297319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1566",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "APPL1",
"entity_type": "gene"
},
{
"created": "2024-02-29T11:41:39.676220+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1566",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: APPL1: Added comment: PMID: 36208030 - a study using the UK Biobank comparing individuals with and without diabetes found LoF variants in APPL1 were ‘Inconsistent’ with being high penetrant for diabetes (failed both statistical criteria - enrichment & comparison to maximum credible allele frequency). Refutes previous study.; Changed rating: RED; Changed publications: 26073777, 36208030",
"entity_name": "APPL1",
"entity_type": "gene"
},
{
"created": "2024-02-29T11:22:56.049193+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KLF11 as ready",
"entity_name": "KLF11",
"entity_type": "gene"
},
{
"created": "2024-02-29T11:22:56.036719+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: klf11 has been classified as Red List (Low Evidence).",
"entity_name": "KLF11",
"entity_type": "gene"
}
]
}