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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1256",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1254",
"results": [
{
"created": "2021-08-02T12:12:30.766032+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANK2 were set to ",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:11:30.759587+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:10:12.813779+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANK2 as Red List (low evidence)",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:10:12.801244+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ank2 has been classified as Red List (Low Evidence).",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:09:48.202914+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: None; Publications: 31983240; Phenotypes: Long QT syndrome 4, MIM# 600919; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:08:09.962493+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANK2 as ready",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:08:09.950658+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ank2 has been classified as Green List (High Evidence).",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:08:07.220898+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANK2 were changed from to Complex neurodevelopmental disorder, MONDO:0100038",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:07:37.729134+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANK2 were set to ",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:07:07.820502+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:06:36.614863+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22542183, 25363768, 27479843, 28554332, 30564305, 30755392, 31981491, 33004838, 33057194; Phenotypes: Complex neurodevelopmental disorder, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:06:17.123987+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANK2 were changed from Complex neurodevelopmental disorder, MONDO:0100038 to Complex neurodevelopmental disorder, MONDO:0100038",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:03:34.475485+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANK2 were set to 22542183; 25363768; 27479843; 28554332; 30564305; 30755392; 31981491; 33004838; 33057194",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:02:02.396719+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANK2 were changed from intellectual disability to Complex neurodevelopmental disorder, MONDO:0100038",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:01:47.143202+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANK2 were set to 22542183, 25363768, 27479843, 28554332, 30564305, 30755392, 31981491",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:01:22.573800+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANK2 as Green List (high evidence)",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:01:22.562132+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ank2 has been classified as Green List (High Evidence).",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:00:49.720125+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22542183, 25363768, 27479843, 28554332, 30564305, 30755392, 31981491, 33004838, 33057194; Phenotypes: Complex neurodevelopmental disorder, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T11:53:00.886225+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDX3 as ready",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2021-08-02T11:53:00.876297+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdx3 has been classified as Green List (High Evidence).",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2021-08-02T11:52:57.381488+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRDX3 as Green List (high evidence)",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2021-08-02T11:52:57.370167+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdx3 has been classified as Green List (High Evidence).",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2021-08-02T11:52:37.158688+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRDX3 was added\ngene: PRDX3 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: PRDX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRDX3 were set to 33889951\nPhenotypes for gene: PRDX3 were set to Cerebellar ataxia (early onset, mild to moderate, progressive)\nReview for gene: PRDX3 was set to GREEN\nAdded comment: Biallelic variants in 5 unrelated families with early onset (median 21 years , range 13-22 years) with ataxia with variable additional hyper- and hypokinetic movement disorders, and severe early-onset cerebellar atrophy (seen on MRI), and involvement of the brainstem, medullary olive and parietal cortex.\r\n\r\nEvolution of the disease was gait ataxia leading to upper limb ataxia, then dysarthria and then dysphagia, all within a decade. For some of these patients, the phenotype included myoclonus, dystonia and / or tremor. Mild classical mitochondrial features were seen in one of the patients, namely ptosis and COX-negative fibres.\r\n\r\nThe variants were homozygous nonsense, homozygous frameshift, homozygous missense, and a compound heterozygote with a splice variant and missense, all leading to complete loss of the protein. Oxidative stress and mitochondrial dysfunction was indicated as the disease mechanism.\r\n\r\nThe families originated from Germany, France, India and two from eastern Turkey. The two families from Turkey were seemingly unrelated to each other but had the same homozygous missense.\r\n\r\nPatient fibroblasts from each of the five probands showed lack of protein (via Western blot) and decreased glutathione peroxidase activity and decreased mitochondrial maximal respiratory capacity.\r\n\r\nPRDX3 encodes peroxiredoxin 3, a mitochondrial antioxidant protein, that catalyses the reduction of hydrogen peroxide. It localises in the mitochondria, where most hydrogen peroxide is generated.\r\n\r\nFunctional studies: PRDX3 knockdown (induced by silencing RNA against PRDX3) in cerebellar medulloblastoma cells showed significantly decreased cell viability, increased hydrogen peroxide levels and increased susceptibility to apoptosis triggered by reactive oxygen species.\r\n\r\nIn addition, induced knockdown drosophila (in vivo animal model) had aberrant locomotor phenotypes and reduced lifespans, while immunolabelling of the brain showed increased cell death after exposure to oxidative stress. \nSources: Literature",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2021-08-02T11:50:19.666686+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDX3 as ready",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2021-08-02T11:50:19.655979+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdx3 has been classified as Green List (High Evidence).",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2021-08-02T11:50:11.144275+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRDX3 as Green List (high evidence)",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2021-08-02T11:50:11.133717+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdx3 has been classified as Green List (High Evidence).",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2021-08-02T11:49:45.368030+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRDX3 was added\ngene: PRDX3 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: PRDX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRDX3 were set to 33889951\nPhenotypes for gene: PRDX3 were set to Cerebellar ataxia (early onset, mild to moderate, progressive)\nReview for gene: PRDX3 was set to GREEN\nAdded comment: Biallelic variants in 5 unrelated families with early onset (median 21 years , range 13-22 years) with ataxia with variable additional hyper- and hypokinetic movement disorders, and severe early-onset cerebellar atrophy (seen on MRI), and involvement of the brainstem, medullary olive and parietal cortex.\r\n\r\nEvolution of the disease was gait ataxia leading to upper limb ataxia, then dysarthria and then dysphagia, all within a decade. For some of these patients, the phenotype included myoclonus, dystonia and / or tremor. Mild classical mitochondrial features were seen in one of the patients, namely ptosis and COX-negative fibres.\r\n\r\nThe variants were homozygous nonsense, homozygous frameshift, homozygous missense, and a compound heterozygote with a splice variant and missense, all leading to complete loss of the protein. Oxidative stress and mitochondrial dysfunction was indicated as the disease mechanism.\r\n\r\nThe families originated from Germany, France, India and two from eastern Turkey. The two families from Turkey were seemingly unrelated to each other but had the same homozygous missense.\r\n\r\nPatient fibroblasts from each of the five probands showed lack of protein (via Western blot) and decreased glutathione peroxidase activity and decreased mitochondrial maximal respiratory capacity.\r\n\r\nPRDX3 encodes peroxiredoxin 3, a mitochondrial antioxidant protein, that catalyses the reduction of hydrogen peroxide. It localises in the mitochondria, where most hydrogen peroxide is generated.\r\n\r\nFunctional studies: PRDX3 knockdown (induced by silencing RNA against PRDX3) in cerebellar medulloblastoma cells showed significantly decreased cell viability, increased hydrogen peroxide levels and increased susceptibility to apoptosis triggered by reactive oxygen species.\r\n\r\nIn addition, induced knockdown drosophila (in vivo animal model) had aberrant locomotor phenotypes and reduced lifespans, while immunolabelling of the brain showed increased cell death after exposure to oxidative stress. \nSources: Literature",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2021-08-02T11:42:46.343424+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4009",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "commented on gene: ANK2: Publications largely cover autism risk and discovery in large cohorts. ClinGen review mentions ID, seizures and microcephaly but phenotype and penetrance appear incompletely described.",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T11:26:39.802448+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4009",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "edited their review of gene: ANK2: Changed phenotypes: intellectual disability, autism",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T11:23:25.941480+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4009",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "gene: ANK2 was added\ngene: ANK2 was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANK2 were set to 22542183, 25363768, 27479843, 28554332, 30564305, 30755392, 31981491\nPhenotypes for gene: ANK2 were set to intellectual disability\nPenetrance for gene: ANK2 were set to unknown\nAdded comment: Curated by ClinGen 2020 as definitively associated\r\n? consider taking gene off incidentalome gene list \nSources: Other",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T10:59:42.250550+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDX3 as ready",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2021-08-02T10:59:42.240543+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdx3 has been classified as Green List (High Evidence).",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2021-08-02T10:59:34.409296+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRDX3 as Green List (high evidence)",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2021-08-02T10:59:34.398794+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdx3 has been classified as Green List (High Evidence).",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2021-08-01T20:28:31.123895+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8583",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "changed review comment from: Biallelic variants in 5 unrelated families with early onset (median 21 years , range 13-22 years) with ataxia with variable additional hyper- and hypokinetic movement disorders, and severe early-onset cerebellar atrophy (seen on MRI), and involvement of the brainstem, medullary olive and parietal cortex.\r\nEvolution of the disease was gait ataxia leading to upper limb ataxia, then dysarthria and then dysphagia, all within a decade. For some of these patients, the phenotype included myoclonus, dystonia and / or tremor. Mild classical mitochondrial features were seen in one of the patients, namely ptosis and COX-negative fibres. \r\nThe variants were homozygous nonsense, homozygous frameshift, homozygous missense, and a compound heterozygote of a splice variant and missense, all leading to complete loss of the protein. Oxidative stress and mitochondrial dysfunction was indicated as the disease mechanism. \r\nThe families originated from Germany, France, India and two from eastern Turkey. The two families from Turkey were seemingly unrelated to each other but had the same homozygous missense. \r\nPatient fibroblasts from each of the five probands showed lack of protein (via Western blot) and decreased glutathione peroxidase activity and decreased mitochondrial maximal respiratory capacity.\r\nPRXD3 encodes peroxiredoxin 3, a mitochondrial antioxidant protein, that catalyses the reduction of hydrogen peroxide. It localises in the mitochondria, where most hydrogen peroxide is generated. \r\nFunctional studies: PRDX3 knockdown (induced by silencing RNA against PRDX3) in cerebellar medulloblastoma cells showed significantly decreased cell viability, increased hydrogen peroxide levels and increased susceptibility to apoptosis triggered by reactive oxygen species. \r\nIn addition, induced knockdown drosophila (in vivo animal model) had aberrant locomotor phenotypes and reduced lifespans, while immunolabelling of the brain showed increased cell death after exposure to oxidative stress. \nSources: Literature; to: Biallelic variants in 5 unrelated families with early onset (median 21 years , range 13-22 years) with ataxia with variable additional hyper- and hypokinetic movement disorders, and severe early-onset cerebellar atrophy (seen on MRI), and involvement of the brainstem, medullary olive and parietal cortex.\r\nEvolution of the disease was gait ataxia leading to upper limb ataxia, then dysarthria and then dysphagia, all within a decade. For some of these patients, the phenotype included myoclonus, dystonia and / or tremor. Mild classical mitochondrial features were seen in one of the patients, namely ptosis and COX-negative fibres. \r\nThe variants were homozygous nonsense, homozygous frameshift, homozygous missense, and a compound heterozygote with a splice variant and missense, all leading to complete loss of the protein. Oxidative stress and mitochondrial dysfunction was indicated as the disease mechanism. \r\nThe families originated from Germany, France, India and two from eastern Turkey. The two families from Turkey were seemingly unrelated to each other but had the same homozygous missense. \r\nPatient fibroblasts from each of the five probands showed lack of protein (via Western blot) and decreased glutathione peroxidase activity and decreased mitochondrial maximal respiratory capacity.\r\nPRDX3 encodes peroxiredoxin 3, a mitochondrial antioxidant protein, that catalyses the reduction of hydrogen peroxide. It localises in the mitochondria, where most hydrogen peroxide is generated. \r\nFunctional studies: PRDX3 knockdown (induced by silencing RNA against PRDX3) in cerebellar medulloblastoma cells showed significantly decreased cell viability, increased hydrogen peroxide levels and increased susceptibility to apoptosis triggered by reactive oxygen species. \r\nIn addition, induced knockdown drosophila (in vivo animal model) had aberrant locomotor phenotypes and reduced lifespans, while immunolabelling of the brain showed increased cell death after exposure to oxidative stress. \r\nSources: Literature",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2021-08-01T20:23:55.380393+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8583",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "gene: PRDX3 was added\ngene: PRDX3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PRDX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRDX3 were set to PMID: 33889951\nPhenotypes for gene: PRDX3 were set to cerebellar ataxia (early onset, mild to moderate, progressive)\nPenetrance for gene: PRDX3 were set to unknown\nReview for gene: PRDX3 was set to GREEN\nAdded comment: Biallelic variants in 5 unrelated families with early onset (median 21 years , range 13-22 years) with ataxia with variable additional hyper- and hypokinetic movement disorders, and severe early-onset cerebellar atrophy (seen on MRI), and involvement of the brainstem, medullary olive and parietal cortex.\r\nEvolution of the disease was gait ataxia leading to upper limb ataxia, then dysarthria and then dysphagia, all within a decade. For some of these patients, the phenotype included myoclonus, dystonia and / or tremor. Mild classical mitochondrial features were seen in one of the patients, namely ptosis and COX-negative fibres. \r\nThe variants were homozygous nonsense, homozygous frameshift, homozygous missense, and a compound heterozygote of a splice variant and missense, all leading to complete loss of the protein. Oxidative stress and mitochondrial dysfunction was indicated as the disease mechanism. \r\nThe families originated from Germany, France, India and two from eastern Turkey. The two families from Turkey were seemingly unrelated to each other but had the same homozygous missense. \r\nPatient fibroblasts from each of the five probands showed lack of protein (via Western blot) and decreased glutathione peroxidase activity and decreased mitochondrial maximal respiratory capacity.\r\nPRXD3 encodes peroxiredoxin 3, a mitochondrial antioxidant protein, that catalyses the reduction of hydrogen peroxide. It localises in the mitochondria, where most hydrogen peroxide is generated. \r\nFunctional studies: PRDX3 knockdown (induced by silencing RNA against PRDX3) in cerebellar medulloblastoma cells showed significantly decreased cell viability, increased hydrogen peroxide levels and increased susceptibility to apoptosis triggered by reactive oxygen species. \r\nIn addition, induced knockdown drosophila (in vivo animal model) had aberrant locomotor phenotypes and reduced lifespans, while immunolabelling of the brain showed increased cell death after exposure to oxidative stress. \nSources: Literature",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:18:47.210891+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDN1 as ready",
"entity_name": "EDN1",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:18:47.200375+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: edn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EDN1",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:17:38.505639+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSC as ready",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:17:38.495216+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gsc has been classified as Green List (High Evidence).",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:17:27.403138+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GSC were changed from Foundation Trust)\tShort stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471; Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471 to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:17:04.168938+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GSC were set to ",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:16:29.782325+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GSC: Rating: GREEN; Mode of pathogenicity: None; Publications: 24290375; Phenotypes: Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:15:49.227531+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSC as ready",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:15:49.213973+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gsc has been classified as Green List (High Evidence).",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:15:42.358944+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GSC were changed from to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:15:25.365057+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GSC were set to ",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:15:06.643168+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GSC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:14:48.347664+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GSC: Rating: GREEN; Mode of pathogenicity: None; Publications: 24290375; Phenotypes: Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:13:49.270602+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSC as ready",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:13:49.260368+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gsc has been classified as Green List (High Evidence).",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:13:44.907378+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GSC were changed from to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:13:14.668290+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GSC were set to ",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:12:44.251473+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GSC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:12:18.785113+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GSC: Rating: GREEN; Mode of pathogenicity: None; Publications: 24290375; Phenotypes: Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:08:31.891936+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAI3 as ready",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:08:31.882810+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai3 has been classified as Green List (High Evidence).",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:08:22.347707+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAI3 were changed from to Auriculocondylar syndrome 1, OMIM #602483",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:08:04.439077+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAI3 were set to ",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:07:42.314998+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNAI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:07:22.320547+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNAI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22560091; Phenotypes: Auriculocondylar syndrome 1, OMIM #602483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:06:24.795759+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAI3 as ready",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:06:24.784388+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai3 has been classified as Green List (High Evidence).",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:06:20.643585+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAI3 were changed from to Auriculocondylar syndrome 1, OMIM #602483",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:05:17.604204+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAI3 were set to ",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:04:47.213872+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNAI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:04:05.368335+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNAI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22560091; Phenotypes: Auriculocondylar syndrome 1, OMIM #602483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:02:12.708406+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF4A3 as ready",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:02:12.693023+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif4a3 has been classified as Green List (High Evidence).",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:02:09.479460+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF4A3 were set to 10594883; 29112243; 29922329",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:01:50.878182+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EIF4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360810; Phenotypes: Robin sequence with cleft mandible and limb anomalies, MIM# 268305, Richieri-Costa-Pereira syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:01:13.742116+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF4A3 as ready",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:01:13.730588+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif4a3 has been classified as Green List (High Evidence).",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:01:09.511481+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF4A3 were changed from to Robin sequence with cleft mandible and limb anomalies, MIM# 268305; Richieri-Costa-Pereira syndrome",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T16:00:38.004936+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF4A3 were set to ",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T15:59:52.516120+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF4A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T15:59:23.754205+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EIF4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360810; Phenotypes: Robin sequence with cleft mandible and limb anomalies, MIM# 268305, Richieri-Costa-Pereira syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T15:58:44.443190+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF4A3 as ready",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T15:58:44.414231+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif4a3 has been classified as Green List (High Evidence).",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T15:58:40.987191+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF4A3 were changed from to Robin sequence with cleft mandible and limb anomalies, MIM# 268305; Richieri-Costa-Pereira syndrome",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T15:58:18.450881+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF4A3 were set to ",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T15:57:50.979842+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF4A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T15:57:18.540306+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EIF4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360810; Phenotypes: Robin sequence with cleft mandible and limb anomalies, MIM# 268305, Richieri-Costa-Pereira syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T15:56:45.201630+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF4A3 as ready",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T15:56:45.191663+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif4a3 has been classified as Green List (High Evidence).",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T15:56:37.529724+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF4A3 were changed from to Robin sequence with cleft mandible and limb anomalies, MIM# 268305; Richieri-Costa-Pereira syndrome",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T15:56:19.773043+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF4A3 were set to ",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T15:56:01.337512+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF4A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T15:55:26.019830+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EIF4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360810; Phenotypes: Robin sequence with cleft mandible and limb anomalies, MIM# 268305, Richieri-Costa-Pereira syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T15:54:26.683004+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF4A3 as ready",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T15:54:26.670901+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif4a3 has been classified as Green List (High Evidence).",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T15:51:16.895757+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF4A3 were changed from to Robin sequence with cleft mandible and limb anomalies, MIM# 268305; Richieri-Costa-Pereira syndrome",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T15:50:41.582531+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF4A3 were set to ",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T15:50:18.108708+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF4A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T15:49:49.331589+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EIF4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360810; Phenotypes: Robin sequence with cleft mandible and limb anomalies, MIM# 268305, Richieri-Costa-Pereira syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF4A3",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:52:22.458362+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN11A as ready",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:52:22.449351+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn11a has been classified as Green List (High Evidence).",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:52:17.571506+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCN11A as Green List (high evidence)",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:52:17.560964+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn11a has been classified as Green List (High Evidence).",
"entity_name": "SCN11A",
"entity_type": "gene"
}
]
}