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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=604",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=602",
"results": [
{
"created": "2023-05-09T16:11:21.207289+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbce has been classified as Green List (High Evidence).",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2023-05-09T16:10:48.173552+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2023-05-09T15:50:35.069621+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.83",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "reviewed gene: XPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27230854, 29955172, 33433330; Phenotypes: Basal ganglia calcification, idiopathic, 6, MIM# 616413; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "XPR1",
"entity_type": "gene"
},
{
"created": "2023-05-09T15:45:45.549010+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.168",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: AGK was added\ngene: AGK was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other\nMode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGK were set to 22284826\nPhenotypes for gene: AGK were set to Sengers Syndrome (MIM#212350; MONDO:0008922)\nReview for gene: AGK was set to GREEN\nAdded comment: Mitochondrial disorder with typical features such as hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis\r\n\r\nPMID: 22284826\r\nPredicted LoF variants in 10 individuals from unrelated families \r\n> 5 individuals with confirmed combined respiratory-chain-complex deficiency in muscle tissue as well as lactic acidosis. \nSources: Other",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2023-05-09T15:21:35.689912+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.168",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: AARS2 was added\ngene: AARS2 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other\nMode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AARS2 were set to 21549344; 25058219\nPhenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8 MIM#614096\nReview for gene: AARS2 was set to GREEN\nAdded comment: PMID: 21549344\r\n2 Individuals with infantile mitochondrial HCM and lactic acidosis as well as a severe COX deficiency\r\n \r\nPMID: 25058219\r\n5 individuals from unrelated families with a mutation in AARS and phenotypic features of cardiomyopathy but only 3 individuals presented with lactic acidosis. \nSources: Other",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2023-05-09T14:58:58.628506+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RRAGC were changed from Pediatric Dilated Cardiomyopathy to Dilated cardiomyopathy (MONDO:0005021), RRAGC-related",
"entity_name": "RRAGC",
"entity_type": "gene"
},
{
"created": "2023-05-09T14:58:44.967722+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RRAGC were set to PMID: 29367541; 27234373",
"entity_name": "RRAGC",
"entity_type": "gene"
},
{
"created": "2023-05-09T14:58:26.769879+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RRAGC as Green List (high evidence)",
"entity_name": "RRAGC",
"entity_type": "gene"
},
{
"created": "2023-05-09T14:58:26.753065+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rragc has been classified as Green List (High Evidence).",
"entity_name": "RRAGC",
"entity_type": "gene"
},
{
"created": "2023-05-09T14:57:56.756014+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RRAGC were changed from Dilated cardiomyopathy; cataract to Dilated cardiomyopathy (MONDO:0005021), RRAGC-related",
"entity_name": "RRAGC",
"entity_type": "gene"
},
{
"created": "2023-05-09T14:57:31.671620+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RRAGC as Green List (high evidence)",
"entity_name": "RRAGC",
"entity_type": "gene"
},
{
"created": "2023-05-09T14:57:31.659551+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rragc has been classified as Green List (High Evidence).",
"entity_name": "RRAGC",
"entity_type": "gene"
},
{
"created": "2023-05-09T14:34:08.421852+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: TPM3: Changed mode of pathogenicity: Other",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2023-05-09T14:31:41.650738+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: TRIP4 was added\ngene: TRIP4 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIP4 were set to 27008887; 31794073\nPhenotypes for gene: TRIP4 were set to ?Muscular dystrophy, congenital, Davignon-Chauveau type (MIM#617066)\nReview for gene: TRIP4 was set to GREEN\nAdded comment: PMID: 27008887\r\n4 individuals from a consanguineous French family with congenital muscular dystrophy\r\n\r\nPMID: 31794073\r\n5 individuals from unrelated families with phenotypic onset in childhood or at birth consistent with congenital muscular dystrophy. \nSources: Other",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2023-05-09T14:21:33.366167+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: TPM3 was added\ngene: TPM3 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: TPM3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TPM3 were set to 26418456; 18300303; 10619715; 12196661; 18382475\nPhenotypes for gene: TPM3 were set to Congenital myopathy 4A, autosomal dominant (MIM#255310); Congenital myopathy 4B, autosomal recessive (MIM#609284)\nReview for gene: TPM3 was set to GREEN\nAdded comment: Variable age of onset due to the variability of phenotypes. Mutations in TPM3 cause a diverse group of congenital myopathies all characterised by muscle weakness/hypotonia.\r\n\r\nAD Congenital Myopathy:\r\nPMID: 26418456\r\nQuantitative in vitro motility assay show that gain of function is mechanism of disease - mutations in the TPM3 gene led to an increased function in the myofibres/muscle cells.\r\n2 unrelated individuals with ΔE218 and ΔE224 de novo deletions in TPM3 with muscle stiffness. Both muscle biopsies showed features of mild myopathy. \r\n\r\nPMID: 18300303\r\n4 individuals with phenotypic features of congenital myopathy and mutation present in TPM3\r\n\r\nAR Congenital myopathy:\r\nPMID: 10619715\r\nIndividual from consanguineous parents with severe symptoms of congenital myopathy\r\n\r\nPMID: 12196661\r\nIndividual who is a compound heterozygote for nemaline myopathy\r\n\r\nPMID: 18382475\r\nAffected individuals from two turkish families with myopathy phenotypes. \nSources: Other",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2023-05-09T13:50:35.009374+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: TPM2 was added\ngene: TPM2 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TPM2 were set to 17846275; 23378224\nPhenotypes for gene: TPM2 were set to Nemaline myopathy 4, autosomal dominant (MIM#609285)\nReview for gene: TPM2 was set to GREEN\nAdded comment: - Variable age of onset \r\n- Phenotypic symptoms overlap with CAP syndrome\r\n\r\nPMID: 17846275\r\n2 individuals identified with mutations in TPM2 however only one had clinical features and a muscle biopsy (with an accumulation of nemaline rods), concordant with nemaline myopathy. \r\n\r\nPMID: 23378224\r\n8 individuals from 5 unrelated families\r\nPresence of congenital contractures in early childhood and all had the presence of rods in their muscle biopsies \nSources: Other",
"entity_name": "TPM2",
"entity_type": "gene"
},
{
"created": "2023-05-09T13:32:11.800170+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: TNNC2 was added\ngene: TNNC2 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: TNNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TNNC2 were set to 33755597\nPhenotypes for gene: TNNC2 were set to Congenital Myopathy 15 (MIM#62016)\nReview for gene: TNNC2 was set to AMBER\nAdded comment: Age of onset is soon after birth\r\n\r\nPMID: 33755597\r\n2 individuals from unrelated families \r\nMuscle biopsies showed hypertrophy or slow-twitch myofibres. \nSources: Other",
"entity_name": "TNNC2",
"entity_type": "gene"
},
{
"created": "2023-05-09T13:23:16.702331+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.83",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: WDR45 was added\ngene: WDR45 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: WDR45 were set to 26859818; 25301227\nPhenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5, MIM# 300894\nReview for gene: WDR45 was set to AMBER\nAdded comment: PMID 26859818 reports a patient with a heterozygous WDR45 variant (c.400G > A) who had symmetrical calcification of the medial globus pallidi.\r\nPMID 25301227 reports a patient with a heterozygous WDR45 variant (c.488del C p.Pro163Argfs*34) who had bilateral dense calcification of the globus pallidus. \nSources: Expert list",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2023-05-09T13:16:50.892569+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: STAC3 was added\ngene: STAC3 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STAC3 were set to 28411587; 28777491\nPhenotypes for gene: STAC3 were set to Congenital myopathy 13 (MIM#255995)\nReview for gene: STAC3 was set to GREEN\nAdded comment: Also known as Bailey-Bloch congenital myopathy and Native American myopathy (NAM)\r\n\r\nPMID: 28411587\r\nAn individual with congenital muscle weakness and contracture and clinical phenotypes consistent with myopathy. \r\n\r\nPMID: 28777491\r\n3 individuals from 2 unrelated consanguineous families with clinical symptoms of myopathy.\r\n\r\n(Note: Individuals with a mutation in STAC3 are shown to have MH susceptibility in the presence of anesthesia.) \nSources: Other",
"entity_name": "STAC3",
"entity_type": "gene"
},
{
"created": "2023-05-09T12:36:45.837641+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.83",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: VARS2 was added\ngene: VARS2 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VARS2 were set to 29314548\nPhenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, MIM# 615917\nReview for gene: VARS2 was set to RED\nAdded comment: Limited evidence supports the causal role of the VARS2 gene in brain calcification.\r\nPMID 29314548 reports a patient (Patient 5) with compound heterozygous VARS2 variants (c.1135G > A, p.Ala379Thr and c.1877C > A, p.Ala626Asp) who had symmetrical bilateral basal ganglia calcification. \nSources: Expert list",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2023-05-09T11:54:28.173445+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.83",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 11402114; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM# 221770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYROBP",
"entity_type": "gene"
},
{
"created": "2023-05-09T11:51:11.951048+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: SPEG was added\ngene: SPEG was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPEG were set to 25087613; 30412272\nPhenotypes for gene: SPEG were set to Centronuclear myopathy 5, MIM# 615959\nReview for gene: SPEG was set to GREEN\nAdded comment: Variable age of onset (typically seen from birth to early childhood)\r\n\r\nPMID: 25087613\r\n3 unrelated individuals with myopathic changes in their biopsy findings (increased centralize nuclei) and decreased amounts of SPEG protein. \r\n\r\nMouse model showed the increase in centralised nuclei in muscle biopsies concordant with a clinical diagnosis of centronuclear myopathy. \r\n\r\nPMID: 30412272\r\n2 individuals from unrelated families with hypotonia at birth as well as other phenotypes concordant with a clinical diagnosis of centronuclear myopathy. \nSources: Other",
"entity_name": "SPEG",
"entity_type": "gene"
},
{
"created": "2023-05-09T11:36:40.322153+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: PAX7 was added\ngene: PAX7 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: PAX7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PAX7 were set to 31092906\nPhenotypes for gene: PAX7 were set to Congenital myopathy 19 (MIM#618578)\nReview for gene: PAX7 was set to GREEN\nAdded comment: Infantile onset of progressive muscle weakness and atrophy\r\n\r\nPMID: 31092906\r\n5 individuals from 4 unrelated families with consanguineous parents - all having clinical signs of myopathy from birth. \nSources: Other",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2023-05-09T11:29:53.859416+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: MYOD1 was added\ngene: MYOD1 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: MYOD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYOD1 were set to 26733463; 31260566; 30403323\nPhenotypes for gene: MYOD1 were set to Congenital Myopathy 17 (MIM#618975)\nReview for gene: MYOD1 was set to GREEN\nAdded comment: Onset of condition is typically at birth. \r\n\r\nPMID: 26733463\r\n3 siblings from a first degree consanguineous family with myopathy phenotype. \r\n\r\nPMID: 31260566\r\nTwo siblings from a fourth degree consansanguineous family with poor weight gain and motor delay and muscle biopsy suggestive of myopathy.\r\n\r\nPMID: 30403323\r\nPatient with motor delay, hypotonia identified with a homozygous variant in MYOD1 causative of congenital myopathy. The variant was shown to segregate in the family. \nSources: Other",
"entity_name": "MYOD1",
"entity_type": "gene"
},
{
"created": "2023-05-09T10:47:44.752595+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: MYL1 was added\ngene: MYL1 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYL1 were set to 30275711\nPhenotypes for gene: MYL1 were set to Congenital Myopathy 14 (MIM#618414)\nReview for gene: MYL1 was set to AMBER\nAdded comment: Phenotypic onset is seen typically at birth or in utero during pregnancy. \r\nSkeletal muscle biopsy typically show a variation in fibre size with specific atrophy of the fast-twitch type II fibres.\r\n\r\nPMID: 30275711\r\n2 individuals from unrelated consanguineous families.\r\nZebrafish model showed a reduced muscle development resulting in the aberrant phenotypes. \nSources: Other",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2023-05-09T10:34:15.521977+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: MYBPC1 was added\ngene: MYBPC1 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: MYBPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYBPC1 were set to 31264822; 31025394\nPhenotypes for gene: MYBPC1 were set to Congenital Myopathy 16 (MIM#618524)\nReview for gene: MYBPC1 was set to GREEN\nAdded comment: age of onset is seen to be typically during infancy\r\n\r\nPMID: 31264822\r\n4 individuals from 3 unrelated families with myopathy related phenotypes\r\n\r\nPMID: 31025394\r\n2 individuals from unrelated families with myopathy \nSources: Other",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2023-05-09T10:18:06.425865+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: MTMR14 was added\ngene: MTMR14 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: MTMR14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MTMR14 were set to 20400459; 20817957; 19465920; 17008356\nPhenotypes for gene: MTMR14 were set to {Centronuclear myopathy, autosomal, modifier of} (MIM#160150)\nReview for gene: MTMR14 was set to AMBER\nAdded comment: Functional assays show the effect of the protein on the gene function that related to the phenotypes expected, however the gene has only been reported and confirmed to cause myopathy in one case. \r\n\r\nPMID: 20400459; 20817957; 19465920\r\nMouse and Zebrafish models show the effect of loss of function of MTMR14 protein due to mutations in MTMR14 which resulted in phenotypic features of myopathy\r\n\r\nPMID: 17008356\r\nReported in two families with myopathy however the second individual had an alternate diagnosis. \nSources: Other",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2023-05-09T09:53:57.405789+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: MAP3K20 was added\ngene: MAP3K20 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAP3K20 were set to 27816943\nPhenotypes for gene: MAP3K20 were set to Centronuclear myopathy 6 with fiber-type disproportion (MIM#617760; MONDO:0054695)\nReview for gene: MAP3K20 was set to GREEN\nAdded comment: Age of onset - Infancy or early childhood\r\n\r\nPhenotype and muscle biopsy abnormalities are variable - centralized nuclei and fibre type disproportion seem to be a common finding\r\n\r\nPMID: 27816943\r\n6 individuals from 3 unrelated consanguineous families with myopathy \nSources: Other",
"entity_name": "MAP3K20",
"entity_type": "gene"
},
{
"created": "2023-05-09T09:35:27.142898+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: LMOD3 was added\ngene: LMOD3 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LMOD3 were set to 25250574; 28815944; 30291184\nPhenotypes for gene: LMOD3 were set to Nemaline myopathy 10 (MIM# 616165; MONDO:0014513)\nReview for gene: LMOD3 was set to GREEN\nAdded comment: Age of onset is typically during pregnancy (antenatal) however severity of the condition is variable. \r\nTypical phenotypes include: severe generalized hypotonia and weakness at birth, respiratory insufficiency, feeding difficulties, and bulbar weakness\r\n\r\nPMID: 25250574\r\nMultiple individuals from unrelated families (21 individuals from 14 patients).\r\nSegregation analysis was consistent of an AR inheritance \r\nZebrafish model showed the complete loss of function in myotubes resulting in abnormal motor function. \nSources: Other",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2023-05-09T09:19:59.535303+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: KLHL41 was added\ngene: KLHL41 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KLHL41 were set to 24268659\nPhenotypes for gene: KLHL41 were set to Nemaline Myopathy 9 (MIM#615731; MONDO:0014326)\nReview for gene: KLHL41 was set to GREEN\nAdded comment: Age of onset is not definitive - condition has high phenotypic variability\r\n\r\nPMID: 24268659\r\nZebrafish functional study model showed the loss of function of KLHL41 resulting in highly diminished motor function. \r\n\r\n5 unrelated children with nemaline myopathy 9. Muscle biopsies in individuals showed the presence of sarcoplamisc rods in myofibers. \nSources: Other",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2023-05-08T17:01:53.846873+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: KLHL40 was added\ngene: KLHL40 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KLHL40 were set to 23746549\nPhenotypes for gene: KLHL40 were set to Nemaline myopathy 8, autosomal recessive, MIM# 615348\nReview for gene: KLHL40 was set to GREEN\nAdded comment: PMID: 23746549\r\nMultiple individuals from unrelated families identified with NEM (both severe and milder forms) \r\nStudy showed that KLHL40 mutations are more likely to cause severe NEM \r\n\r\nIdentified founder mutation, c.1582G>A, in Japanese population. Was also found in Kurdish and Turkish population. \nSources: Other",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2023-05-08T16:45:48.054177+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: KBTBD13 was added\ngene: KBTBD13 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KBTBD13 were set to 21104864; 11731279; 21109227\nPhenotypes for gene: KBTBD13 were set to Nemaline myopathy 6, autosomal dominant (MIM# 609273; MONDO:0012237)\nReview for gene: KBTBD13 was set to GREEN\nAdded comment: PMID: 21104864; 11731279; 21109227\r\n4 individuals from unrelated families with clinical features consistent with nemaline myopathy \r\n\r\n(articles reference the gene NEM6 - previous name) \nSources: Other",
"entity_name": "KBTBD13",
"entity_type": "gene"
},
{
"created": "2023-05-08T16:19:04.431008+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: HRAS was added\ngene: HRAS was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HRAS were set to 17412879\nPhenotypes for gene: HRAS were set to Congenital myopathy with excess of muscle spindles (MIM#218040)\nReview for gene: HRAS was set to AMBER\nAdded comment: A variant of Costello Syndrome which is typically characterised by diffuse hypotonia, short stature, developmental delay etc. \r\n\r\nAge of onset - birth to early childhood \r\n\r\nMost of the mutations related to CMEMS are inherited in an Autosomal Dominant manner, some can be caused by Somatic mutations as well. \r\n\r\nPMID: 17412879\r\n4 unrelated individuals identified with a mutation in HRAS and clinical features causative of congenital myopathy with excess of muscle spindles (CMEMS). No functional evidence or animal model study conducted yet \nSources: Other",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2023-05-08T15:05:22.108128+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: HACD1 was added\ngene: HACD1 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: HACD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HACD1 were set to 32426512; 27939133; 33354762; 23933735\nPhenotypes for gene: HACD1 were set to Congenital myopathy 11 (MIM#619967; MONDO:0019952)\nReview for gene: HACD1 was set to GREEN\nAdded comment: Age of onset - from birth to early childhood (typically) but is not progressive \r\n\r\nPMID: 32426512; 27939133\r\nIndividual from consanguineous parents present with a LINE insertation mutation in HACD1 known to cause a form of centronuclear myopathy in dogs. \r\nDeveloped myopathy features from the age of 4\r\n\r\nPMID: 33354762\r\n3 individuals from unrelated families with a homozygous mutation causative of congenital myopathy. Age of onset of symptoms varied between birth to early childhood in these patients. The symptoms showed that the disorder is not progressive and muscle weakness improves in late childhood. \r\n\r\nPMID: 23933735\r\nLarge consanguineous family with 4 carrying a homozygous mutation in HACD1 causative of congenital myopathy. \nSources: Other",
"entity_name": "HACD1",
"entity_type": "gene"
},
{
"created": "2023-05-08T14:36:27.695312+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: FXR1 was added\ngene: FXR1 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: FXR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FXR1 were set to 30770808; 35393337\nPhenotypes for gene: FXR1 were set to Congenital myopathy 9B, proximal, with minicore lesions (MIM#618823; MONDO:0032937)\nReview for gene: FXR1 was set to GREEN\nAdded comment: Variable age of onset - typically early to late childhood \r\n\r\nPMID: 30770808\r\n4 individuals from 2 unrelated families (3 individuals reported from the same family) present with phenotypic features of myopathy such as hypotonia.\r\n\r\nPMID: 35393337\r\n8 individuals from 4 unrelated families identified with bi-allelic variants with myopathy phenotypes \nSources: Other",
"entity_name": "FXR1",
"entity_type": "gene"
},
{
"created": "2023-05-08T14:20:45.413135+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: EPG5 was added\ngene: EPG5 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: EPG5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: EPG5 were set to 23222957\nPhenotypes for gene: EPG5 were set to Vici Syndrome (MONDO: 0009452; MIM#242840)\nReview for gene: EPG5 was set to GREEN\nAdded comment: Rare congenital disorder (that is reported in multiple individuals) - individuals typically present with profound psychomotor retardation and hypotonia due to myopathy. \r\n\r\nAge of onset is typically early childhood. \r\n\r\nPMID: 23222957\r\n>6 individuals from unrelated families identified with mutations in EPG5 and phenotypic features related to Vici Syndrome \nSources: Other",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2023-05-08T13:52:53.953414+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: DYNC1H1 was added\ngene: DYNC1H1 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DYNC1H1 were set to PMID: 2245967; 25609763\nPhenotypes for gene: DYNC1H1 were set to Spinal muscular atrophy, lower extremity-predominant 1, (MIM#158600; MONDO:0008026)\nReview for gene: DYNC1H1 was set to GREEN\nAdded comment: Phenotypes can resemble those similar to congenital myopathy\r\nAge of onset ranges from birth to early childhood\r\n\r\nPMID: 22459677\r\nPhenotypes included early childood onset of proximal leg weakness with muscle atropy and significant motor delay\r\n\r\nPMID: 25609763\r\n>10 individuals with SMA phenotypic features similar to congenital myopathy \nSources: Other",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2023-05-08T13:36:43.363369+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: DHX16 was added\ngene: DHX16 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: DHX16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DHX16 were set to 36211162\nPhenotypes for gene: DHX16 were set to Neuromuscular disease and ocular or auditory anomalies with or without seizures (MIM#618733; MONDO:0032890)\nReview for gene: DHX16 was set to RED\nAdded comment: Gene not related to congenital myopathies but has phenotype overlap\r\n\r\nPMID: 36211162\r\nOne individual presents with severe hypotonia as well as sensorineural deafness and a mixed axonal sensory with developmental delay. \r\nIdentified a de novo vairant present causative of Neuromuscular disease and ocular or auditory anomalies with or without seizures. \nSources: Other",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2023-05-08T13:20:56.428141+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: CNTN1 was added\ngene: CNTN1 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: CNTN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CNTN1 were set to 10926398\nPhenotypes for gene: CNTN1 were set to Congenital Myopathy 12, Compton-North myopathy (MONDO:0012929; MIM#612540)\nReview for gene: CNTN1 was set to AMBER\nAdded comment: PMID: 10926398\r\nsingle family reported with clinical features consistent with severe lethal myopathy\r\n(age of onset is unknown as only one family has been reported) \nSources: Other",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2023-05-08T11:44:17.988129+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: CFL2 was added\ngene: CFL2 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFL2 were set to PMID: 17160903; 22560515\nPhenotypes for gene: CFL2 were set to Nemaline myopathy 7 (MONDO:0012538; MIM#610687)\nReview for gene: CFL2 was set to GREEN\nAdded comment: PMID: 17160903; 22560515\r\nAge of onset - from birth to early childhood (typically around the ages of expected childhood milestones)\r\n- 4 individuals from 2 unrelated consangineous families with clinical phenotypes consistent with congenital myopathy \nSources: Other",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2023-05-08T11:34:25.251694+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: CCDC78 was added\ngene: CCDC78 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCDC78 were set to 22818856\nPhenotypes for gene: CCDC78 were set to Centronuclear Myopathy (MIM#614807; MONDO: 0018947)\nReview for gene: CCDC78 was set to AMBER\nAdded comment: PMID: 22818856\r\n5 individuals in the same family with features of myopathy \r\n(Hypotonia, excessive fatigue, prominent myalgias)\r\nMutations in this gene are not common for congenital myopathy. \nSources: Other",
"entity_name": "CCDC78",
"entity_type": "gene"
},
{
"created": "2023-05-08T11:24:05.041817+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.83",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21175459, 30628968, 19258292, 28786492; Phenotypes: Tuberous sclerosis-2, MIM# 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2023-05-08T11:17:23.815371+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ASCC3 was added\ngene: ASCC3 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASCC3 were set to 35047834\nPhenotypes for gene: ASCC3 were set to Congenital Myopathy (MONDO:0019952); Neuromuscular Symptoms\nReview for gene: ASCC3 was set to GREEN\nAdded comment: PMID: 35047834\r\n11 individuals from 7 unrelated families present with clinical phenotypes consistent with ASCC3-related myopathy. \r\nAll individuals reported developmental delay and muscle weakness but age of onset is unknown \nSources: Other",
"entity_name": "ASCC3",
"entity_type": "gene"
},
{
"created": "2023-05-08T10:58:17.139369+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ASCC1 was added\ngene: ASCC1 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASCC1 were set to (PMID: 30327447; 35838082; 26924529)\nPhenotypes for gene: ASCC1 were set to Congenital Myopathy - MONDO:0019952\nReview for gene: ASCC1 was set to GREEN\nAdded comment: PMID: 30327447; 35838082\r\n>3 individuals from unrelated families with clinical features consistent with congenital myopathy\r\n\r\nPMID: 35838082\r\nIndividual with congenital myopathy phenotype and a mutation in ASCC1. \r\n\r\nPMID: 26924529\r\nAnimal study showed the effect on ASCC1 protein function in muscle cells. \nSources: Other",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2023-05-08T09:19:33.269915+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.83",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: TBCE was added\ngene: TBCE was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCE were set to 28138323; 35935360\nPhenotypes for gene: TBCE were set to Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410\nReview for gene: TBCE was set to AMBER\nAdded comment: PMID 35935360 reports a total of 63 patients with hypoparathyroidism-retardation-dysmorphism (HRD) Syndrome, of which 32 had brain calcifications. Although the paper states that 25 of 63 patients had genetic diagnoses, the number of patients with brain calcification carrying TBCE variants is unclear. \nSources: Expert list",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2023-05-07T12:53:11.516789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RECQL4 were changed from Baller-Gerold syndrome, MIM# 218600; RAPADILINO syndrome, MIM# 266280; Rothmund-Thomson syndrome, type 2,MIM# 268400 to Baller-Gerold syndrome, MIM# 218600; RAPADILINO syndrome, MIM# 266280; Rothmund-Thomson syndrome, type 2,MIM# 268400; RECON progeroid syndrome, MIM# 620370",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2023-05-07T12:52:44.334257+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RECQL4 were set to ",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2023-05-07T12:52:24.856070+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two families reported with a progeroid disorder, however all individuals had the same homozygous missense variant, suggestive of founder effect.; to: PMID 35025765: Two families reported with a progeroid disorder, however all individuals had the same homozygous missense variant, suggestive of founder effect.",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2023-05-07T12:52:09.146882+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RECQL4: Rating: RED; Mode of pathogenicity: None; Publications: 35025765; Phenotypes: RECON progeroid syndrome, MIM# 620370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2023-05-07T12:50:33.475709+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RECQL4 were changed from Rothmund-Thomson syndrome, type 2, MIM# 268400; RAPADILINO syndrome, MIM# 266280; Baller-Gerold syndrome, MIM# 218600 to Rothmund-Thomson syndrome, type 2, MIM# 268400; RAPADILINO syndrome, MIM# 266280; Baller-Gerold syndrome, MIM# 218600; RECON progeroid syndrome, MIM# 620370",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2023-05-07T12:50:04.594037+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RECQL4 were set to 10319867; 12952869; 15964893",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2023-05-07T12:49:28.334534+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RECQL4: Added comment: Two families reported with a progeroid disorder, however all individuals had the same homozygous missense variant, suggestive of founder effect.; Changed publications: 10319867, 12952869, 15964893, 35025765",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2023-05-07T12:14:59.279134+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RECQL4: Changed phenotypes: Rothmund-Thomson syndrome, type 2, MIM# 268400, RAPADILINO syndrome, MIM# 266280, Baller-Gerold syndrome, MIM# 218600, RECON progeroid syndrome, MIM# 620370",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2023-05-06T17:22:23.858770+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP5O as ready",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-05-06T17:22:23.848344+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5o has been classified as Green List (High Evidence).",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-05-06T17:22:20.104351+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP5O as Green List (high evidence)",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-05-06T17:22:20.087337+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5o has been classified as Green List (High Evidence).",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-05-06T17:21:42.335896+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP5O was added\ngene: ATP5O was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP5O were set to 34954817; 35621276\nPhenotypes for gene: ATP5O were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359\nReview for gene: ATP5O was set to GREEN\nAdded comment: 4 individuals from three unrelated families reported. Onset in infancy. Features included intrauterine growth retardation, hypotonia, neonatal respiratory distress, and global developmental delay, seizures. \nSources: Literature",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-05-06T17:21:07.382948+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP5O were changed from mitochondrial disease, ATP5F1E-related MONDO:0044970 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-05-06T17:20:35.646784+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP5O were set to 34954817",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-05-06T17:20:21.906510+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP5O as Green List (high evidence)",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-05-06T17:20:21.894162+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5o has been classified as Green List (High Evidence).",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-05-06T17:19:28.980690+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: None; Publications: 35621276; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-05-06T17:15:38.812177+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLITRK2 were changed from Neurodevelopmental disorder, SLITRK2-related MONDO:0700092 to Intellectual developmental disorder, X-linked 111, MIM# 301107",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2023-05-06T17:14:59.950438+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLITRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 111, MIM# 301107; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2023-05-06T17:14:41.488279+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLITRK2 were changed from Neurodevelopmental disorder, SLITRK2-related MONDO:0700092 to Intellectual developmental disorder, X-linked 111, MIM# 301107",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2023-05-06T17:14:02.980088+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLITRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 111, MIM# 301107; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2023-05-06T17:13:35.651256+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLITRK2 were changed from Neurodevelopmental disorder, SLITRK2-related MONDO:0700092 to Intellectual developmental disorder, X-linked 111, MIM# 301107",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2023-05-06T17:13:10.654756+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLITRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 111, MIM# 301107; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2023-05-06T13:21:27.997417+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.869",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: AMFR was added\ngene: AMFR was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AMFR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMFR were set to 37119330\nPhenotypes for gene: AMFR were set to Hereditary spastic paraplegia, MONDO:0019064\nReview for gene: AMFR was set to GREEN\nAdded comment: PMID 37119330 reports 20 individuals harbouring AMFR variants from 8 unrelated, consanguineous families. All patients had early disease onset (<3 years), including motor delay, lower limb hyperreflexia and spastic paraplegia that match the typical phenotypes of hereditary spastic paraplegia. \nSources: Literature",
"entity_name": "AMFR",
"entity_type": "gene"
},
{
"created": "2023-05-06T13:19:06.151106+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.61",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: AMFR was added\ngene: AMFR was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: AMFR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMFR were set to 37119330\nPhenotypes for gene: AMFR were set to Hereditary spastic paraplegia, MONDO:0019064\nReview for gene: AMFR was set to GREEN\nAdded comment: PMID 37119330 reports 20 individuals harbouring AMFR variants from 8 unrelated, consanguineous families. All patients had early disease onset (<3 years), including motor delay, lower limb hyperreflexia and spastic paraplegia that match the typical phenotypes of hereditary spastic paraplegia. \nSources: Literature",
"entity_name": "AMFR",
"entity_type": "gene"
},
{
"created": "2023-05-05T14:36:32.578460+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: POLD3 as ready",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2023-05-05T14:36:32.569393+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pold3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2023-05-05T13:03:47.890766+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: POLD3 were changed from Severe combined immunodeficiency to Severe combined immunodeficiency MONDO:0015974",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2023-05-05T13:03:04.681852+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: POLD3 were set to PMID: 37030525",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2023-05-05T13:02:44.693468+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POLD3 as Amber List (moderate evidence)",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2023-05-05T13:02:44.684252+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pold3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2023-05-05T13:02:06.283733+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.869",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POLD3 as Amber List (moderate evidence)",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2023-05-05T13:02:06.272273+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.869",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pold3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2023-05-05T13:01:48.794340+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.868",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: POLD3 as ready",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2023-05-05T13:01:48.785705+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.868",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pold3 has been classified as Red List (Low Evidence).",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2023-05-05T13:01:33.007584+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.868",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLD3 was added\ngene: POLD3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: POLD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLD3 were set to 37030525; 36395985; 27524497\nPhenotypes for gene: POLD3 were set to Severe combined immunodeficiency MONDO:0015974\nReview for gene: POLD3 was set to AMBER\nAdded comment: Homozygous missense variant (NM_006591.3; p.Ile10Thr) identified in a single Lebanese patient, the product of a consanguineous family, presenting with a syndromic severe combined immunodeficiency with neurodevelopmental delay and hearing loss. POLD3 as well as POLD1 and POLD2 expression was abolished in the patient's cells. Null mouse models are embryonic lethal and demonstrate Pold3 is essential for DNA replication in murine B cells. \nSources: Literature",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:47:24.951359+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC4A2 as ready",
"entity_name": "SLC4A2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:47:24.942986+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc4a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC4A2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:44:23.505700+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: NEB was added\ngene: NEB was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEB were set to 25205138\nPhenotypes for gene: NEB were set to Nemaline Myopathy 2 (MIM#256030; MONDO: 0009725)\nReview for gene: NEB was set to GREEN\nAdded comment: PMID: 25205138\r\nMultiple individuals diagnosed with nemaline myopathy 2 in a well-established gene with variable age of onset \nSources: Other",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:40:45.880788+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: POLD2 were changed from Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability to Non-severe combined immunodeficiency due to polymerase delta deficiency MONDO:0800145; Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:37:00.791261+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POLD2 as Amber List (moderate evidence)",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:37:00.784261+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pold2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:36:15.508267+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: POLD2 were set to 31449058",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:35:55.485786+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POLD2 as Amber List (moderate evidence)",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:35:55.476443+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pold2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:35:24.140944+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: POLD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31449058, 36528861; Phenotypes: Non-severe combined immunodeficiency due to polymerase delta deficiency MONDO:0800145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:34:44.611310+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.867",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: POLD2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:34:19.007884+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.867",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: POLD2 were changed from Intellectual disability; immunodeficiency to Non-severe combined immunodeficiency due to polymerase delta deficiency MONDO:0800145",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:33:51.806175+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.866",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: POLD2 were set to 31449058",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:33:34.696025+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: MYPN was added\ngene: MYPN was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: MYPN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYPN were set to 28017374\nPhenotypes for gene: MYPN were set to Nemaline Myopathy (MIM#617336; MONDO:0018958)\nReview for gene: MYPN was set to GREEN\nAdded comment: PMID: 28017374\r\nSlowly progressive myopathy with onset in childhood \r\nIdentified in at least 4 individuals \nSources: Other",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:33:21.652860+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.865",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POLD2 as Amber List (moderate evidence)",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:33:21.641600+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.865",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pold2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:32:59.745550+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.864",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: POLD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31449058, 36528861; Phenotypes: Non-severe combined immunodeficiency due to polymerase delta deficiency MONDO:0800145; Mode of inheritance: None",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:25:10.696167+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC4A2 as ready",
"entity_name": "SLC4A2",
"entity_type": "gene"
}
]
}