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"count": 220363,
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{
"created": "2022-03-18T17:16:49.809824+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11541",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFAF7: Rating: RED; Mode of pathogenicity: None; Publications: 28837730; Phenotypes: Pathologic myopia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NDUFAF7",
"entity_type": "gene"
},
{
"created": "2022-03-18T17:12:29.355565+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.419",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: 2 unrelated families reported with patient-specific functional evidence provided for each. Regression noted in one reported patient. Other reported family had two siblings unwell from birth with a relatively fulminant course. Another large family reported with recurrent decompensation episodes.\r\n\r\nPMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network. \r\n\r\nPMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect\r\n\r\nPMID 18179882 - report multiple affected individuals from one family. Most presented soon after birth with severe metabolic acidosis and high plasma lactate levels. Patients who survived longer were repeatedly admitted because of exacerbation of the acidosis during intercurrent infections. One long-term survivor had profound ID. Seizures occurred in 2 individuals during decompensation episodes. Brain MRI of one patient at 16 months of age revealed severe atrophy of both gray and white matter, with demyelination, most prominent at the anterior aspects of the brain, leaving a cortical ribbon. At the occipito-parietal region there were subventricular cysts, emphasizing the ventricular walls. The cerebellum, basal ganglia, pons, and medulla were severely atrophic; to: 3 unrelated families reported with patient-specific functional evidence provided for each. Regression noted in one reported patient. Other reported family had two siblings unwell from birth with a relatively fulminant course. Another large family reported with fulminant neonatal course / longer-term survivors having recurrent decompensation episodes.\r\n\r\nPMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network. \r\n\r\nPMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect\r\n\r\nPMID 18179882 - report multiple affected individuals from one family. Most presented soon after birth with severe metabolic acidosis and high plasma lactate levels. Patients who survived longer were repeatedly admitted because of exacerbation of the acidosis during intercurrent infections. One long-term survivor had profound ID. Seizures occurred in 2 individuals during decompensation episodes. Brain MRI of one patient at 16 months of age revealed severe atrophy of both gray and white matter, with demyelination, most prominent at the anterior aspects of the brain, leaving a cortical ribbon. At the occipito-parietal region there were subventricular cysts, emphasizing the ventricular walls. The cerebellum, basal ganglia, pons, and medulla were severely atrophic",
"entity_name": "NDUFAF4",
"entity_type": "gene"
},
{
"created": "2022-03-18T17:09:44.396497+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.419",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFAF4: Rating: AMBER; Mode of pathogenicity: None; Publications: 32949790, 28853723, 18179882; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFAF4",
"entity_type": "gene"
},
{
"created": "2022-03-18T17:07:26.919510+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.380",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: Brain anomalies noted but not involving corpus callosum.\r\n\r\nPMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network. \r\n\r\nPMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect; to: Brain anomalies noted but not involving corpus callosum.\r\n\r\nPMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network. \r\n\r\nPMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect\r\n\r\nPMID 18179882 - report multiple affected individuals from one family. Most presented soon after birth with severe metabolic acidosis and high plasma lactate levels. Patients who survived longer were repeatedly admitted because of exacerbation of the acidosis during intercurrent infections. One long-term survivor had profound ID. Seizures occurred in 2 individuals during decompensation episodes. Brain MRI of one patient at 16 months of age revealed severe atrophy of both gray and white matter, with demyelination, most prominent at the anterior aspects of the brain, leaving a cortical ribbon. At the occipito-parietal region there were subventricular cysts, emphasizing the ventricular walls. The cerebellum, basal ganglia, pons, and medulla were severely atrophic",
"entity_name": "NDUFAF4",
"entity_type": "gene"
},
{
"created": "2022-03-18T17:07:00.808688+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.721",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: 2 unrelated families reported with patient-specific functional evidence provided for each.\r\n\r\nPMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network. \r\n\r\nPMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect; to: 3 unrelated families reported with patient-specific functional evidence provided for each.\r\n\r\nPMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network. \r\n\r\nPMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect.\r\n\r\nPMID 18179882 - report multiple affected individuals from one family. Most presented soon after birth with severe metabolic acidosis and high plasma lactate levels. Patients who survived longer were repeatedly admitted because of exacerbation of the acidosis during intercurrent infections. One long-term survivor had profound ID. Seizures occurred in 2 individuals during decompensation episodes. Brain MRI of one patient at 16 months of age revealed severe atrophy of both gray and white matter, with demyelination, most prominent at the anterior aspects of the brain, leaving a cortical ribbon. At the occipito-parietal region there were subventricular cysts, emphasizing the ventricular walls. The cerebellum, basal ganglia, pons, and medulla were severely atrophic",
"entity_name": "NDUFAF4",
"entity_type": "gene"
},
{
"created": "2022-03-18T17:05:23.317373+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11541",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: FRA10AC1 as Green List (high evidence)",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-03-18T17:05:23.305187+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11541",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: fra10ac1 has been classified as Green List (High Evidence).",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-03-18T17:05:13.497584+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11540",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NDUFAF4",
"entity_type": "gene"
},
{
"created": "2022-03-18T17:05:04.411174+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11540",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "edited their review of gene: NDUFAF4: Added comment: 3 unrelated families reported with patient-specific functional evidence provided for each.\r\n\r\nPMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network. \r\n\r\nPMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect\r\n\r\nPMID 18179882 - report multiple affected individuals from one family. Most presented soon after birth with severe metabolic acidosis and high plasma lactate levels. Patients who survived longer were repeatedly admitted because of exacerbation of the acidosis during intercurrent infections. One long-term survivor had profound ID.; Changed publications: 32949790, 28853723, 18179882",
"entity_name": "NDUFAF4",
"entity_type": "gene"
},
{
"created": "2022-03-18T16:57:46.140219+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.380",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFAF4: Rating: RED; Mode of pathogenicity: None; Publications: 32949790, 28853723; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFAF4",
"entity_type": "gene"
},
{
"created": "2022-03-18T16:57:08.501120+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.721",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32949790, 28853723; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFAF4",
"entity_type": "gene"
},
{
"created": "2022-03-18T16:36:58.830364+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11540",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32949790, 28853723; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFAF4",
"entity_type": "gene"
},
{
"created": "2022-03-18T15:44:12.758389+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11540",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27986404, 29344937, 19463981; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFAF3",
"entity_type": "gene"
},
{
"created": "2022-03-18T15:43:50.067846+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.419",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27986404, 29344937, 19463981; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFAF3",
"entity_type": "gene"
},
{
"created": "2022-03-18T15:43:07.467715+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.380",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFAF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27986404, 29344937, 19463981; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFAF3",
"entity_type": "gene"
},
{
"created": "2022-03-18T15:39:50.493857+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.721",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27986404, 29344937, 19463981; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFAF3",
"entity_type": "gene"
},
{
"created": "2022-03-18T13:30:08.579705+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBA5 as ready",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2022-03-18T13:30:08.568569+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uba5 has been classified as Green List (High Evidence).",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2022-03-18T13:29:55.820814+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBA5 were changed from to Spinocerebellar ataxia, autosomal recessive 24, MIM# 617133; Epileptic encephalopathy, early infantile, 44 617132; Hypomyelinating neuropathy",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2022-03-18T13:29:34.881304+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBA5 were set to ",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2022-03-18T13:27:37.723990+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2022-03-18T13:27:18.199548+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic variants in UBA5 cause a range of neurological phenotypes. Ataxia has been specifically described only in one sibling pair. Multiple individuals reported with a more severe EE/ID phenotype, and non-specific movement disorders.; to: Bi-allelic variants in UBA5 cause a range of neurological phenotypes. Ataxia has been specifically described only in one sibling pair. Multiple individuals reported with a more severe EE/ID phenotype, and non-specific movement disorders.\r\n\r\nAlso note these two reports of demyelinating peripheral neuropathy: 26872069 pair of sibs with mild ataxia, one with neuropathy; 32179706 five individuals from a consanguineous family presenting in infancy with severe fatal neuropathy. Some functional data. Due to early mortality, uncertain at present whether additional features would have developed. ",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2022-03-18T13:26:54.115230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBA5: Changed rating: GREEN; Changed publications: 26872069, 27545681, 27545674, 32179706, 26872069; Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 24, MIM# 617133, Epileptic encephalopathy, early infantile, 44 617132, Hypomyelinating neuropathy",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:48:05.486887+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.721",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28857146, 32154054, 18513682; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:46:50.658683+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.116",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NDUFA2 was added\ngene: NDUFA2 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFA2 were set to 28857146; 32154054; 18513682\nPhenotypes for gene: NDUFA2 were set to Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235\nReview for gene: NDUFA2 was set to AMBER\nAdded comment: 4 unrelated patients reported in the published literature. 2 reported to have postnatal-onset microcephaly.\r\n\r\nPMID 28857146 - report 2 unrelated patients with cystic leukoencephalopathy. \r\n\r\nPatient 1 - born at term, unremarkable antenatal history. Presented at 8 months with encephalopathy, hepatomegaly, hyperammonemia. Exhibited developmental regression until 12 months of age and also had moderate ID, dystonia, spasticity and focal epilepsy. Initially had homozygous SLC22A5 variant associated with primary carnitine deficiency. MRI-B age 2 showed white matter + cystic changes and corpus callosum anomalies. Complex 1 deficiency suspected based on white matter anomalies. Patient-derived fibroblasts showed decrease in complex 1 enzyme activity. WES identified homozygous NDUFA2 variant with parental testing confirming carrier status.\r\n\r\nPatient 2 - compound het NDUFA2 variants. Phenotypic features include - failure to thrive, developmental regression, upper motor neuron signs, white matter abnormalities + cystic changes on MRI-Brain, severe GDD and microcephaly.\r\n\r\nPMID: 32154054 - report a patient with developmental regression and postnatal onset progressive microcephaly. Other features included UMN signs, spastic equinovarus deformity of the feet. At age 4 developed generalised seizures in context of VZV infection. Abnormal MRI-B including white matter changes, bilateral cavitating lesions and corpus callosum anomalies. Homozygous NDUFA2 variant identified.\r\n\r\nPMID: 18513682 - report a patient with an isolated complex I deficiency expressed in skin fibroblasts as well as muscle tissue. Normal antenatal course reported - D5 of life diagnosed with hypertrophic cardiomyopathy was diagnosed. Other phenotypic features included developmental delay, regression, MRI anomalies (cerebral atrophy, hypoplasia corpus callosum), seizures. \nSources: Literature",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:46:05.655652+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.419",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28857146, 32154054, 18513682; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:45:02.131484+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.380",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28857146, 32154054, 18513682; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:42:24.783711+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1490",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28857146, 32154054, 18513682; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:39:53.804599+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11537",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28857146, 32154054, 18513682; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:35:42.703105+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KANSL1 as ready",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:35:42.689919+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kansl1 has been classified as Green List (High Evidence).",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:33:35.157206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: IKBKG.",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:33:23.550120+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKBKG as ready",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:33:23.537573+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikbkg has been classified as Green List (High Evidence).",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:33:15.426214+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKBKG were changed from to Ectodermal dysplasia and immunodeficiency 1, MIM# 300291; Immunodeficiency 33 , MIM#300636; Incontinentia pigmenti, MIM# 308300",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:32:51.728241+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:32:22.100912+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia and immunodeficiency 1, MIM# 300291, Immunodeficiency 33 , MIM#300636, Incontinentia pigmenti, MIM# 308300; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:17:29.063643+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKBKB as ready",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:17:29.052205+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikbkb has been classified as Green List (High Evidence).",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:17:18.623006+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKBKB were changed from to Immunodeficiency 15A, MIM# 618204; Immunodeficiency 15B, MIM# 615592",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:16:52.733339+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IKBKB were set to ",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:16:29.779354+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IKBKB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:16:10.199124+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IKBKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 24369075, 25216719, 30337470, 10195897, 32117824; Phenotypes: Immunodeficiency 15A, MIM# 618204, Immunodeficiency 15B, MIM# 615592; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:09:22.192793+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL10RB as ready",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:09:22.181876+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il10rb has been classified as Green List (High Evidence).",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:09:13.530690+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL10RB were changed from to Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:08:51.797257+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL10RB were set to ",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:08:29.666624+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IL10RB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:05:00.748647+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL12B as ready",
"entity_name": "IL12B",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:05:00.735329+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il12b has been classified as Green List (High Evidence).",
"entity_name": "IL12B",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:04:58.470135+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL12B were changed from to Immunodeficiency 29, mycobacteriosis, MIM# 614890",
"entity_name": "IL12B",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:04:23.858433+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL12B were set to ",
"entity_name": "IL12B",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:03:54.859168+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IL12B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL12B",
"entity_type": "gene"
},
{
"created": "2022-03-18T10:03:20.771561+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IL12B: Rating: GREEN; Mode of pathogenicity: None; Publications: 9854038, 11753820, 34389021; Phenotypes: Immunodeficiency 29, mycobacteriosis, MIM# 614890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL12B",
"entity_type": "gene"
},
{
"created": "2022-03-18T09:56:44.041563+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL12B as ready",
"entity_name": "IL12B",
"entity_type": "gene"
},
{
"created": "2022-03-18T09:56:44.015734+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il12b has been classified as Green List (High Evidence).",
"entity_name": "IL12B",
"entity_type": "gene"
},
{
"created": "2022-03-18T09:56:36.629249+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL12B were changed from to Immunodeficiency 29, mycobacteriosis, MIM# 614890",
"entity_name": "IL12B",
"entity_type": "gene"
},
{
"created": "2022-03-18T09:56:14.817054+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL12B were set to ",
"entity_name": "IL12B",
"entity_type": "gene"
},
{
"created": "2022-03-18T09:55:51.004954+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IL12B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL12B",
"entity_type": "gene"
},
{
"created": "2022-03-18T09:52:54.256892+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IL12B: Rating: GREEN; Mode of pathogenicity: None; Publications: 9854038, 11753820, 34389021; Phenotypes: Immunodeficiency 29, mycobacteriosis, MIM# 614890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL12B",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:56:30.911466+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL10RB as ready",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:56:30.899826+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il10rb has been classified as Green List (High Evidence).",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:56:28.649758+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL10RB were changed from to Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:55:58.928920+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL10RB were set to ",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:55:29.224090+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IL10RB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:54:57.805182+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IL10RB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890111, 21519361, 35187668, 31096038; Phenotypes: Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:54:16.919728+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IL10RB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890111, 21519361, 35187668, 31096038; Phenotypes: Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:51:18.661745+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL10RA as ready",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:51:18.650039+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il10ra has been classified as Green List (High Evidence).",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:50:36.662670+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL10RA were changed from to Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:50:07.142725+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL10RA were set to ",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:49:33.675052+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IL10RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:49:01.932258+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IL10RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890111, 21519361, 22476154; Phenotypes: Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:46:01.257013+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL10RA as ready",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:46:01.244123+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il10ra has been classified as Green List (High Evidence).",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:45:51.421740+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL10RA were changed from to Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:45:31.132667+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL10RA were set to ",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:45:09.246136+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IL10RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:44:48.431044+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IL10RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890111, 21519361, 22476154; Phenotypes: Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:42:46.577895+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL10 as ready",
"entity_name": "IL10",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:42:46.566568+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il10 has been classified as Green List (High Evidence).",
"entity_name": "IL10",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:42:43.057130+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL10 as Green List (high evidence)",
"entity_name": "IL10",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:42:43.046336+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il10 has been classified as Green List (High Evidence).",
"entity_name": "IL10",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:42:12.853895+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL10 was added\ngene: IL10 was added to Inflammatory bowel disease. Sources: Expert Review\nMode of inheritance for gene: IL10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL10 were set to 22236434; 20951137; 19890111\nPhenotypes for gene: IL10 were set to Diseases of Immune Dysregulation; Early-onset inflammatory bowel disease\nReview for gene: IL10 was set to GREEN\nAdded comment: At least two families and a mouse model. \nSources: Expert Review",
"entity_name": "IL10",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:41:55.405815+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least two families and a mouse model.\r\n\r\nRare variants in this gene are also associated with susceptibility to a range of immune-related complex disorder.; to: At least two families and a mouse model.\r\n\r\nRare variants in this gene are also associated with susceptibility to a range of immune-related complex disorders.",
"entity_name": "IL10",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:41:09.391475+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL10 as ready",
"entity_name": "IL10",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:41:09.374504+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il10 has been classified as Green List (High Evidence).",
"entity_name": "IL10",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:40:34.234977+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL10 were changed from to Diseases of Immune Dysregulation; Early-onset inflammatory bowel disease",
"entity_name": "IL10",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:40:13.456588+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL10 were set to ",
"entity_name": "IL10",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:39:50.410485+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IL10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL10",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:39:31.893347+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 22236434, 20951137, 19890111; Phenotypes: Diseases of Immune Dysregulation, Early-onset inflammatory bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL10",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:31:45.961328+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGLL1 as ready",
"entity_name": "IGLL1",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:31:45.949606+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igll1 has been classified as Green List (High Evidence).",
"entity_name": "IGLL1",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:31:43.673519+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGLL1 were changed from to Agammaglobulinaemia 2, MIM# 613500",
"entity_name": "IGLL1",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:31:13.849785+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGLL1 were set to ",
"entity_name": "IGLL1",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:30:40.627101+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IGLL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IGLL1",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:30:09.092787+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9419212, 25502423, 27576013; Phenotypes: Agammaglobulinaemia 2, MIM# 613500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IGLL1",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:29:32.270874+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGLL1 as ready",
"entity_name": "IGLL1",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:29:32.261066+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igll1 has been classified as Green List (High Evidence).",
"entity_name": "IGLL1",
"entity_type": "gene"
},
{
"created": "2022-03-18T07:29:23.250481+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGLL1 were changed from to Agammaglobulinaemia 2, MIM# 613500",
"entity_name": "IGLL1",
"entity_type": "gene"
}
]
}