{"count":220324,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1326","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1324","results":[{"created":"2021-05-10T18:00:36.469953+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.623","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499348, 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246, MONDO:0032629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T17:59:31.491563+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7567","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFB3 as ready","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T17:59:31.479537+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7567","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufb3 has been classified as Green List (High Evidence).","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T17:59:15.381210+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7567","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFB3 were changed from  to Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246; MONDO:0032629","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T17:58:55.782329+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7566","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFB3 were set to ","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T17:58:33.854182+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7565","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T17:58:05.007482+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7564","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246, MONDO:0032629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T16:40:43.107220+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7564","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22499348; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM#618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T09:29:39.829170+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3758","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RALA were changed from Intellectual disability; short stature; dysmorphism to Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311; Intellectual disability; short stature; dysmorphism","entity_name":"RALA","entity_type":"gene"},{"created":"2021-05-10T09:29:11.887136+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3757","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RALA: Changed phenotypes: Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311, Intellectual disability, short stature, dysmorphism","entity_name":"RALA","entity_type":"gene"},{"created":"2021-05-10T09:29:07.693357+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1079","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RALA were changed from Intellectual disability; Seizures to Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311; Intellectual disability; Seizures","entity_name":"RALA","entity_type":"gene"},{"created":"2021-05-10T09:28:40.606930+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1078","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RALA: Changed phenotypes: Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311, Intellectual disability, Seizures","entity_name":"RALA","entity_type":"gene"},{"created":"2021-05-10T09:28:21.190778+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7564","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RALA were changed from Intellectual disability; Seizures to Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311; Intellectual disability; Seizures","entity_name":"RALA","entity_type":"gene"},{"created":"2021-05-10T09:27:57.323597+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7563","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RALA: Changed phenotypes: Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311, Intellectual disability, Seizures","entity_name":"RALA","entity_type":"gene"},{"created":"2021-05-10T09:27:17.218941+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7563","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXOSC1 were changed from Pontocerebellar hypoplasia to Pontocerebellar hypoplasia, type 1F, MIM# 619304","entity_name":"EXOSC1","entity_type":"gene"},{"created":"2021-05-10T09:26:57.559965+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7562","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EXOSC1: Changed phenotypes: Pontocerebellar hypoplasia, type 1F, MIM# 619304","entity_name":"EXOSC1","entity_type":"gene"},{"created":"2021-05-10T09:26:56.564052+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXOSC1 were changed from Pontocerebellar hypoplasia to Pontocerebellar hypoplasia, type 1F, MIM#\t619304","entity_name":"EXOSC1","entity_type":"gene"},{"created":"2021-05-10T09:26:21.277709+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EXOSC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1F, MIM# 619304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOSC1","entity_type":"gene"},{"created":"2021-05-10T09:25:03.666331+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, MIM#\t616505 to Neuropathy, hereditary motor and sensory, type VIB, MIM#\t616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2021-05-10T09:24:49.949781+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Multiple families reported. Clinical presentation is highly variable. Complex progressive neurologic disorder characterised mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy. \nSources: Expert list; to: Multiple families reported. Clinical presentation is highly variable. Complex progressive neurologic disorder characterised mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy. New PCH disease entity added by OMIM in 2021 to reflect the more severe end of the spectrum.\r\nSources: Expert list","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2021-05-10T09:24:19.384456+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC25A46: Changed phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505, Pontocerebellar hypoplasia, type 1E, MIM# 619303","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2021-05-10T09:24:01.225831+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.280","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC25A46 were changed from Hereditary motor and sensory neuropathy type VIB, MIM#616505 to Hereditary motor and sensory neuropathy type VIB, MIM#616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2021-05-10T09:23:45.473168+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.\r\n\r\nAt least 10 unrelated families reported, supportive functional data.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus. New PCH disease entity added by OMIM in 2021 to reflect the more severe end of the spectrum.\r\n\r\nAt least 10 unrelated families reported, supportive functional data.","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2021-05-10T09:23:22.827477+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC25A46: Changed phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505, Pontocerebellar hypoplasia, type 1E, MIM# 619303","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2021-05-10T09:23:18.374947+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.623","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2021-05-10T09:22:51.681502+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.622","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.\r\n\r\nAt least 10 unrelated families reported, supportive functional data.\r\n\r\nMitochondrial carrier protein.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus. New PCH disease entity added by OMIM in 2021 to reflect the more severe end of the spectrum.\r\n\r\nAt least 10 unrelated families reported, supportive functional data.\r\n\r\nMitochondrial carrier protein.","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2021-05-10T09:22:31.839539+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.622","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC25A46: Changed phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505, Pontocerebellar hypoplasia, type 1E, MIM# 619303","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2021-05-10T09:22:17.380733+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB (MIM#616505) to Neuropathy, hereditary motor and sensory, type VIB (MIM#616505); Pontocerebellar hypoplasia, type 1E, MIM# 619303","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2021-05-10T09:21:48.397815+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1E, MIM# 619303; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2021-05-10T09:21:16.804853+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7562","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2021-05-10T09:20:56.856357+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7561","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.\r\n\r\nAt least 10 unrelated families reported, supportive functional data.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus. New disease entity added by OMIM in 2021 to reflect this more severe end of the spectrum.\r\n\r\nAt least 10 unrelated families reported, supportive functional data.","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2021-05-10T09:20:32.025579+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7561","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC25A46: Changed phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505, Pontocerebellar hypoplasia, type 1E, MIM# 619303","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2021-05-10T09:20:06.995849+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB (MIM#616505) to Pontocerebellar hypoplasia, type 1E, MIM# 619303","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2021-05-10T09:19:31.135262+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1E, MIM# 619303; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2021-05-10T09:16:02.332006+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7561","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CAPN15 were changed from microphthalmia HP:0000568; coloboma HP:0000589 to Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318; microphthalmia HP:0000568; coloboma HP:0000589","entity_name":"CAPN15","entity_type":"gene"},{"created":"2021-05-10T09:14:34.421786+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3757","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAPN15 as ready","entity_name":"CAPN15","entity_type":"gene"},{"created":"2021-05-10T09:14:34.411868+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3757","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: capn15 has been classified as Green List (High Evidence).","entity_name":"CAPN15","entity_type":"gene"},{"created":"2021-05-10T09:14:28.752657+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3757","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CAPN15 as Green List (high evidence)","entity_name":"CAPN15","entity_type":"gene"},{"created":"2021-05-10T09:14:28.742730+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3757","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: capn15 has been classified as Green List (High Evidence).","entity_name":"CAPN15","entity_type":"gene"},{"created":"2021-05-10T09:11:55.217598+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3756","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAPN15 was added\ngene: CAPN15 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAPN15 were set to 33410501; 32885237\nPhenotypes for gene: CAPN15 were set to Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318\nReview for gene: CAPN15 was set to GREEN\nAdded comment: 5 families reported, including DD/ID in 3. Profound in one family with bi-allelic LoF variant, PMID 33410501. \nSources: Literature","entity_name":"CAPN15","entity_type":"gene"},{"created":"2021-05-10T09:09:03.742762+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7560","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CAPN15 were set to 32885237","entity_name":"CAPN15","entity_type":"gene"},{"created":"2021-05-10T09:08:43.432645+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7559","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CAPN15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33410501; Phenotypes: Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318, microphthalmia HP:0000568, coloboma HP:0000589; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CAPN15","entity_type":"gene"},{"created":"2021-05-10T09:04:20.733190+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CAPN15 were changed from microphthalmia HP:0000568; coloboma HP:0000589 to Oculogastrointestinal neurodevelopmental syndrome\t619318; microphthalmia HP:0000568; coloboma HP:0000589","entity_name":"CAPN15","entity_type":"gene"},{"created":"2021-05-10T09:03:21.867313+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CAPN15: Changed phenotypes: Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318, microphthalmia HP:0000568, coloboma HP:0000589","entity_name":"CAPN15","entity_type":"gene"},{"created":"2021-05-10T09:02:19.252187+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7559","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXOC2 were changed from Global developmental delay; Intellectual disability; Abnormality of the face; Abnormality of brain morphology to Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, MIM# 619306; Global developmental delay; Intellectual disability; Abnormality of the face; Abnormality of brain morphology","entity_name":"EXOC2","entity_type":"gene"},{"created":"2021-05-10T09:02:00.245751+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7558","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EXOC2: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, MIM# 619306, Global developmental delay, Intellectual disability, Abnormality of the face, Abnormality of brain morphology","entity_name":"EXOC2","entity_type":"gene"},{"created":"2021-05-10T09:01:31.011617+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3755","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXOC2 were changed from Global developmental delay; Intellectual disability; Abnormality of the face; Abnormality of brain morphology to Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, MIM# 619306; Global developmental delay; Intellectual disability; Abnormality of the face; Abnormality of brain morphology","entity_name":"EXOC2","entity_type":"gene"},{"created":"2021-05-10T09:00:49.631403+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3754","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EXOC2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, MIM# 619306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOC2","entity_type":"gene"},{"created":"2021-05-09T20:23:52.821477+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7558","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPI1 as ready","entity_name":"SPI1","entity_type":"gene"},{"created":"2021-05-09T20:23:52.812302+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7558","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spi1 has been classified as Green List (High Evidence).","entity_name":"SPI1","entity_type":"gene"},{"created":"2021-05-09T20:23:13.782732+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7558","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPI1 as Green List (high evidence)","entity_name":"SPI1","entity_type":"gene"},{"created":"2021-05-09T20:23:13.773214+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7558","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spi1 has been classified as Green List (High Evidence).","entity_name":"SPI1","entity_type":"gene"},{"created":"2021-05-09T20:22:58.875631+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7557","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPI1 was added\ngene: SPI1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SPI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPI1 were set to 33951726\nPhenotypes for gene: SPI1 were set to Agammaglobulinaemia\nReview for gene: SPI1 was set to GREEN\nAdded comment: Six unrelated individuals reported, four with de novo variants, two unphased. Some functional data. \nSources: Literature","entity_name":"SPI1","entity_type":"gene"},{"created":"2021-05-09T20:22:43.093640+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPI1 as ready","entity_name":"SPI1","entity_type":"gene"},{"created":"2021-05-09T20:22:43.068288+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spi1 has been classified as Green List (High Evidence).","entity_name":"SPI1","entity_type":"gene"},{"created":"2021-05-09T20:22:19.547968+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPI1 as Green List (high evidence)","entity_name":"SPI1","entity_type":"gene"},{"created":"2021-05-09T20:22:19.536605+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spi1 has been classified as Green List (High Evidence).","entity_name":"SPI1","entity_type":"gene"},{"created":"2021-05-09T20:21:31.999079+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPI1 was added\ngene: SPI1 was added to Predominantly Antibody Deficiency. Sources: Literature\nMode of inheritance for gene: SPI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPI1 were set to 33951726\nPhenotypes for gene: SPI1 were set to Agammaglobulinaemia\nReview for gene: SPI1 was set to GREEN\nAdded comment: Six unrelated individuals reported, four with de novo variants, two unphased. Some functional data. \nSources: Literature","entity_name":"SPI1","entity_type":"gene"},{"created":"2021-05-08T13:37:56.577185+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7556","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDRG1 as ready","entity_name":"NDRG1","entity_type":"gene"},{"created":"2021-05-08T13:37:56.561067+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7556","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndrg1 has been classified as Green List (High Evidence).","entity_name":"NDRG1","entity_type":"gene"},{"created":"2021-05-08T13:37:42.267019+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7556","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDRG1 were changed from  to Charcot Marie Tooth disease, type 4D, 601455; MONDO:0011085; Auditory neuropathy","entity_name":"NDRG1","entity_type":"gene"},{"created":"2021-05-08T13:37:14.560802+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7555","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDRG1 were set to ","entity_name":"NDRG1","entity_type":"gene"},{"created":"2021-05-08T13:36:54.217815+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7554","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDRG1","entity_type":"gene"},{"created":"2021-05-08T13:36:36.480518+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7553","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NDRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10831399, 24136616, 33334662, 29724652, 29174527, 28776325; Phenotypes: Charcot Marie Tooth disease, type 4D, 601455, MONDO:0011085, Auditory neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDRG1","entity_type":"gene"},{"created":"2021-05-08T13:30:25.925451+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7553","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTMR2 as ready","entity_name":"MTMR2","entity_type":"gene"},{"created":"2021-05-08T13:30:25.915453+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7553","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mtmr2 has been classified as Green List (High Evidence).","entity_name":"MTMR2","entity_type":"gene"},{"created":"2021-05-08T13:30:18.539326+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7553","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MTMR2 were changed from  to Charcot-Marie-Tooth disease, type 4B1, 601382; MONDO:0011066","entity_name":"MTMR2","entity_type":"gene"},{"created":"2021-05-08T13:29:48.919236+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7552","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MTMR2 were set to 10802647; 16249189; 33653949; 32586600; 32488727; 31680794","entity_name":"MTMR2","entity_type":"gene"},{"created":"2021-05-08T13:29:47.819905+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7552","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MTMR2 were set to ","entity_name":"MTMR2","entity_type":"gene"},{"created":"2021-05-08T13:29:18.415560+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7551","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MTMR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTMR2","entity_type":"gene"},{"created":"2021-05-08T13:29:00.805821+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7550","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MTMR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802647, 16249189, 33653949, 32586600, 32488727, 31680794; Phenotypes: Charcot-Marie-Tooth disease, type 4B1, 601382, MONDO:0011066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTMR2","entity_type":"gene"},{"created":"2021-05-08T12:12:31.921283+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM222 as ready","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-05-08T12:12:31.910593+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem222 has been classified as Green List (High Evidence).","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-05-08T12:12:27.324207+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM222 as Green List (high evidence)","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-05-08T12:12:27.313637+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem222 has been classified as Green List (High Evidence).","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-05-08T12:12:02.756934+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMEM222 was added\ngene: TMEM222 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: TMEM222 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM222 were set to 33824500\nPhenotypes for gene: TMEM222 were set to Intellectual disability; Epilepsy; Microcephaly\nReview for gene: TMEM222 was set to GREEN\nAdded comment: Polla et al (2021 - PMID: 33824500) report 17 individuals from 9 unrelated families, with biallelic TMEM222 pathogenic variants. The phenotype included motor, speech delay and moderate to severe ID (as universal features). Other manifestations included hypotonia (10/15), broad gait (5/12), seizures (7/17 - belonging to 6/9 families), MRI abnormalities (5/8). Variable behavioral abnormalities were observed (aggressive behavior, shy character, stereotypic movements etc). Abnormal OFC was a feature in several with microcephaly in 7 subjects from 4 families (measurements not available for all 17). Nonspecific facial features were reported in 10/17. \nSources: Literature","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-05-08T12:10:35.194024+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7550","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM222 as ready","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-05-08T12:10:35.184477+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7550","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem222 has been classified as Green List (High Evidence).","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-05-08T12:10:27.112282+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7550","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM222 as Green List (high evidence)","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-05-08T12:10:27.103075+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7550","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem222 has been classified as Green List (High Evidence).","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-05-08T12:10:08.637305+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7549","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMEM222 was added\ngene: TMEM222 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TMEM222 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM222 were set to 33824500\nPhenotypes for gene: TMEM222 were set to Intellectual disability; Epilepsy; Microcephaly\nReview for gene: TMEM222 was set to GREEN\nAdded comment: Polla et al (2021 - PMID: 33824500) report 17 individuals from 9 unrelated families, with biallelic TMEM222 pathogenic variants. The phenotype included motor, speech delay and moderate to severe ID (as universal features). Other manifestations included hypotonia (10/15), broad gait (5/12), seizures (7/17 - belonging to 6/9 families), MRI abnormalities (5/8). Variable behavioral abnormalities were observed (aggressive behavior, shy character, stereotypic movements etc). Abnormal OFC was a feature in several with microcephaly in 7 subjects from 4 families (measurements not available for all 17). Nonspecific facial features were reported in 10/17. \nSources: Literature","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-05-08T12:09:19.831792+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1078","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM222 as ready","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-05-08T12:09:19.821338+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1078","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem222 has been classified as Green List (High Evidence).","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-05-08T12:08:45.138380+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1078","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM222 as Green List (high evidence)","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-05-08T12:08:45.127613+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1078","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem222 has been classified as Green List (High Evidence).","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-05-08T12:07:52.732252+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3754","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM222 as Green List (high evidence)","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-05-08T12:07:52.723754+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3754","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem222 has been classified as Green List (High Evidence).","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-05-08T05:38:47.698525+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1077","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"gene: TMEM222 was added\ngene: TMEM222 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TMEM222 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM222 were set to 33824500\nPhenotypes for gene: TMEM222 were set to Motor delay; Delayed speech and language development; Intellectual disability; Generalized hypotonia; Broad-based gait; Abnormality of nervous system morphology; Seizures; Microcephaly; Behavioral abnormality\nPenetrance for gene: TMEM222 were set to Complete\nReview for gene: TMEM222 was set to AMBER\nAdded comment: Seizures have been reported in 7 individuals (from 6 families). Consider inclusion with amber/green rating. From the ID panel :\r\n\r\nPolla et al (2021 - PMID: 33824500) report 17 individuals from 9 unrelated families, with biallelic TMEM222 pathogenic variants.\r\n\r\nThe phenotype included motor, speech delay and moderate to severe ID (as universal features). Other manifestations included hypotonia (10/15), broad gait (5/12), seizures (7/17 - belonging to 6/9 families), MRI abnormalities (5/8). Variable behavioral abnormalities were observed (aggressive behavior, shy character, stereotypic movements etc). Abnormal OFC was a feature in several with microcephaly in 7 subjects from 4 families (measurements not available for all 17). Nonspecific facial features were reported in 10/17. Rare features incl. body tremors, decreased lower extremity muscle mass or disorder of motor neurons.\r\n\r\nTMEM222 variants were identified following exome sequencing. Previous investigations incl. metabolic studies, FMR1, chromosomes by standard karyotype or CMA, SMA, CMT1A were reported to be normal (available for some individuals).\r\n\r\nTMEM222 variants missense and pLoF ones mostly found in homozygosity (7/9 families were consanguineous, compound heterozygosity reported in a single case from the 9 families). Sanger sequencing was used for confirmation of variants, parental carrier state as well as testing of sibs (unaffected sibs tested in 4 families).\r\n\r\nFew individuals had additional genetic findings in other genes, though classified as VUS (3 families).\r\n\r\nThe gene encodes transmembrane protein 222 (208 residues) which however has unknown function. The protein comprises 3 transmembrane domains and a domain of unknown function. TMEMs are a group of transmembrane proteins spanning membranes with - most commonly - unclear function.\r\n\r\nThe authors measured expression by qPCR mRNA analysis, demonstrating highest fetal and adult brain expression (incl. parietal and occipital cortex). Expression levels from GTEx data also support a role in neurodevelopment.\r\n\r\nImmunocytochemistry revealed highest levels in mature human iPSC-derived glutaminergic cortical neurons and moderate in immature ones. Additional studies supported that the gene is highly expressed in dendrites and might play a role in postsynaptic vesicles (colocalization with postsynaptic and early endosomal markers).\r\n\r\nA previous study by Riazuddin et al (2017 - PMID: 27457812) had identified TMEM222 as a candidate gene for ID. This family (PKMR213) however appears to be included as family 2 in the aforementioned publication (same pedigree, variant and phenotype in both articles). \r\n\r\nIn OMIM there is currently no associated phenotype.\r\n\r\nThe gene is listed among the primary ID genes in SysID.\r\n\r\nPlease consider inclusion in the ID panel with green (or amber) rating. This gene may also be included in other panels e.g. for epilepsy, microcephaly, etc. \nSources: Literature","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-05-08T05:38:39.211547+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3753","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"gene: TMEM222 was added\ngene: TMEM222 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TMEM222 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM222 were set to 33824500\nPhenotypes for gene: TMEM222 were set to Motor delay; Delayed speech and language development; Intellectual disability; Generalized hypotonia; Broad-based gait; Abnormality of nervous system morphology; Seizures; Microcephaly; Behavioral abnormality\nPenetrance for gene: TMEM222 were set to Complete\nReview for gene: TMEM222 was set to GREEN\nAdded comment: Polla et al (2021 - PMID: 33824500) report 17 individuals from 9 unrelated families, with biallelic TMEM222 pathogenic variants.\r\n\r\nThe phenotype included motor, speech delay and moderate to severe ID (as universal features). Other manifestations included hypotonia (10/15), broad gait (5/12), seizures (7/17 - belonging to 6/9 families), MRI abnormalities (5/8). Variable behavioral abnormalities were observed (aggressive behavior, shy character, stereotypic movements etc). Abnormal OFC was a feature in several with microcephaly in 7 subjects from 4 families (measurements not available for all 17). Nonspecific facial features were reported in 10/17. Rare features incl. body tremors, decreased lower extremity muscle mass or disorder of motor neurons.\r\n\r\nTMEM222 variants were identified following exome sequencing. Previous investigations incl. metabolic studies, FMR1, chromosomes by standard karyotype or CMA, SMA, CMT1A were reported to be normal (available for some individuals).\r\n\r\nTMEM222 variants missense and pLoF ones mostly found in homozygosity (7/9 families were consanguineous, compound heterozygosity reported in a single case from the 9 families). Sanger sequencing was used for confirmation of variants, parental carrier state as well as testing of sibs (unaffected sibs tested in 4 families).\r\n\r\nFew individuals had additional genetic findings in other genes, though classified as VUS (3 families).\r\n\r\nThe gene encodes transmembrane protein 222 (208 residues) which however has unknown function. The protein comprises 3 transmembrane domains and a domain of unknown function. TMEMs are a group of transmembrane proteins spanning membranes with - most commonly - unclear function.\r\n\r\nThe authors measured expression by qPCR mRNA analysis, demonstrating highest fetal and adult brain expression (incl. parietal and occipital cortex). Expression levels from GTEx data also support a role in neurodevelopment.\r\n\r\nImmunocytochemistry revealed highest levels in mature human iPSC-derived glutaminergic cortical neurons and moderate in immature ones. Additional studies supported that the gene is highly expressed in dendrites and might play a role in postsynaptic vesicles (colocalization with postsynaptic and early endosomal markers).\r\n\r\nA previous study by Riazuddin et al (2017 - PMID: 27457812) had identified TMEM222 as a candidate gene for ID. This family (PKMR213) however appears to be included as family 2 in the aforementioned publication (same pedigree, variant and phenotype in both articles). \r\n\r\nIn OMIM there is currently no associated phenotype.\r\n\r\nThe gene is listed among the primary ID genes in SysID.\r\n\r\nPlease consider inclusion in the ID panel with green (or amber) rating. This gene may also be included in other panels e.g. for epilepsy, microcephaly, etc. \nSources: Literature","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-05-07T21:05:17.045705+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1077","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD5 as ready","entity_name":"CHD5","entity_type":"gene"},{"created":"2021-05-07T21:05:17.036251+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1077","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd5 has been classified as Green List (High Evidence).","entity_name":"CHD5","entity_type":"gene"},{"created":"2021-05-07T21:05:11.583806+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1077","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHD5 as Green List (high evidence)","entity_name":"CHD5","entity_type":"gene"},{"created":"2021-05-07T21:05:11.574059+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1077","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd5 has been classified as Green List (High Evidence).","entity_name":"CHD5","entity_type":"gene"},{"created":"2021-05-07T21:04:42.226018+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1076","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHD5 was added\ngene: CHD5 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CHD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHD5 were set to 33944996\nPhenotypes for gene: CHD5 were set to Intellectual disability; Epilepsy\nReview for gene: CHD5 was set to GREEN\nAdded comment: 16 unrelated individuals reported with language deficits (81%), behavioral symptoms (69%), intellectual disability (64%), epilepsy (62%), and motor delay (56%). \nSources: Literature","entity_name":"CHD5","entity_type":"gene"},{"created":"2021-05-07T21:04:09.659400+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7548","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD5 as ready","entity_name":"CHD5","entity_type":"gene"},{"created":"2021-05-07T21:04:09.649795+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7548","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd5 has been classified as Green List (High Evidence).","entity_name":"CHD5","entity_type":"gene"},{"created":"2021-05-07T21:03:51.396977+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7548","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHD5 as Green List (high evidence)","entity_name":"CHD5","entity_type":"gene"},{"created":"2021-05-07T21:03:51.388082+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7548","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd5 has been classified as Green List (High Evidence).","entity_name":"CHD5","entity_type":"gene"},{"created":"2021-05-07T21:03:05.521666+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7547","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHD5 was added\ngene: CHD5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CHD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHD5 were set to 33944996\nPhenotypes for gene: CHD5 were set to Intellectual disability; Epilepsy\nReview for gene: CHD5 was set to GREEN\nAdded comment: 16 unrelated individuals reported with language deficits (81%), behavioral symptoms (69%), intellectual disability (64%), epilepsy (62%), and motor delay (56%). \nSources: Literature","entity_name":"CHD5","entity_type":"gene"},{"created":"2021-05-07T21:02:48.281027+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3753","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD5 as ready","entity_name":"CHD5","entity_type":"gene"}]}