{"count":220314,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1445","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1443","results":[{"created":"2021-01-16T11:37:26.606157+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.520","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZNF526 as Green List (high evidence)","entity_name":"ZNF526","entity_type":"gene"},{"created":"2021-01-16T11:37:26.592261+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.520","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf526 has been classified as Green List (High Evidence).","entity_name":"ZNF526","entity_type":"gene"},{"created":"2021-01-16T11:36:57.911529+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.519","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNF526 was added\ngene: ZNF526 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF526 were set to 21937992; 25558065; 33397746\nPhenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia\nReview for gene: ZNF526 was set to GREEN\nAdded comment: - PMID: 21937992 (2011) - Two unrelated families (with 4 affected individuals in each) with non-syndromic ID (mild or moderate, respectively) identified harbouring different biallelic missense variants in the ZNF526 gene.\r\n\r\n- PMID: 25558065 (2015) - One family with ID, Noonan-like facies, pulmonary stenosis and a homozygous missense variant in this gene. No further details provided.\r\n\r\n- PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum \nSources: Literature","entity_name":"ZNF526","entity_type":"gene"},{"created":"2021-01-16T11:35:24.916871+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3384","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZNF526 as ready","entity_name":"ZNF526","entity_type":"gene"},{"created":"2021-01-16T11:35:24.906093+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3384","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf526 has been classified as Green List (High Evidence).","entity_name":"ZNF526","entity_type":"gene"},{"created":"2021-01-16T11:35:19.473806+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3384","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZNF526 as Green List (high evidence)","entity_name":"ZNF526","entity_type":"gene"},{"created":"2021-01-16T11:35:19.465330+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3384","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf526 has been classified as Green List (High Evidence).","entity_name":"ZNF526","entity_type":"gene"},{"created":"2021-01-16T11:34:47.010911+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3383","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNF526 was added\ngene: ZNF526 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF526 were set to 21937992; 25558065; 33397746\nPhenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia\nReview for gene: ZNF526 was set to GREEN\nAdded comment: Currently not associated with any phenotype in OMIM (last updated on 09/12/2011), but has a 'possible' disease confidence rating for 'Autosomal Recessive Mental Retardation' in Gene2Phenotype.\r\n\r\n- PMID: 21937992 (2011) - Two unrelated families (with 4 affected individuals in each) with non-syndromic ID (mild or moderate, respectively) identified harbouring different biallelic missense variants in the ZNF526 gene.\r\n\r\n- PMID: 25558065 (2015) - One family with ID, Noonan-like facies, pulmonary stenosis and a homozygous missense variant in this gene. No further details provided.\r\n\r\n- PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum \nSources: Literature","entity_name":"ZNF526","entity_type":"gene"},{"created":"2021-01-16T11:32:42.949107+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6032","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZNF526 were changed from  to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia","entity_name":"ZNF526","entity_type":"gene"},{"created":"2021-01-16T11:32:14.877776+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6031","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZNF526 were set to ","entity_name":"ZNF526","entity_type":"gene"},{"created":"2021-01-16T11:31:08.658642+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6030","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZNF526 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZNF526","entity_type":"gene"},{"created":"2021-01-16T11:30:51.058481+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6029","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZNF526 as Green List (high evidence)","entity_name":"ZNF526","entity_type":"gene"},{"created":"2021-01-16T11:30:51.050741+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6029","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf526 has been classified as Green List (High Evidence).","entity_name":"ZNF526","entity_type":"gene"},{"created":"2021-01-16T11:28:39.803158+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: XRCC2 as ready","entity_name":"XRCC2","entity_type":"gene"},{"created":"2021-01-16T11:28:39.792397+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xrcc2 has been classified as Red List (Low Evidence).","entity_name":"XRCC2","entity_type":"gene"},{"created":"2021-01-16T11:28:33.375427+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"gene: XRCC2 was added\ngene: XRCC2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert list\nMode of inheritance for gene: XRCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XRCC2 were set to 30489636; 30042186\nPhenotypes for gene: XRCC2 were set to Premature ovarian failure 17, MIM#\t619146; Spermatogenic failure, MIM#\t619145\nReview for gene: XRCC2 was set to RED\nAdded comment: One individual reported with POF and bi-allelic variants in her gene. Her brother had spermatogenic failure, and one additional family reported with spermatogenic failure. \nSources: Expert list","entity_name":"XRCC2","entity_type":"gene"},{"created":"2021-01-16T11:24:32.385413+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCNF as ready","entity_name":"CCNF","entity_type":"gene"},{"created":"2021-01-16T11:24:32.377014+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccnf has been classified as Green List (High Evidence).","entity_name":"CCNF","entity_type":"gene"},{"created":"2021-01-16T11:24:29.678439+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CCNF were changed from amyotrophic lateral sclerosis with/without frontotemporal dementia to Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141","entity_name":"CCNF","entity_type":"gene"},{"created":"2021-01-16T11:23:58.788862+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CCNF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CCNF","entity_type":"gene"},{"created":"2021-01-16T11:23:42.664389+11:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CCNF were changed from amyotrophic lateral sclerosis with/without frontotemporal dementia to Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141","entity_name":"CCNF","entity_type":"gene"},{"created":"2021-01-16T11:23:08.175905+11:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CCNF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CCNF","entity_type":"gene"},{"created":"2021-01-16T11:22:46.799491+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CCNF were changed from amyotrophic lateral sclerosis with/without frontotemporal dementia to Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141","entity_name":"CCNF","entity_type":"gene"},{"created":"2021-01-16T11:22:07.044781+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CCNF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141; Mode of inheritance: None","entity_name":"CCNF","entity_type":"gene"},{"created":"2021-01-16T11:21:12.459719+11:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TIA1 were changed from  to Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia\t619133","entity_name":"TIA1","entity_type":"gene"},{"created":"2021-01-16T11:20:37.852362+11:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TIA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TIA1","entity_type":"gene"},{"created":"2021-01-16T11:19:10.132393+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6028","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYLD were changed from Brooke-Spiegler syndrome, 605041; Cylindromatosis, familial, 132700; Trichoepithelioma, multiple familial, 1, 601606; Frontotemporal dementia and amyotrophic lateral sclerosis to Brooke-Spiegler syndrome, 605041; Cylindromatosis, familial, 132700; Trichoepithelioma, multiple familial, 1, 601606; Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132","entity_name":"CYLD","entity_type":"gene"},{"created":"2021-01-16T11:18:37.596045+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6027","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CYLD: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CYLD","entity_type":"gene"},{"created":"2021-01-16T11:18:01.350010+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYLD were changed from Frontotemporal dementia; Amyotrophic lateral sclerosis to Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132","entity_name":"CYLD","entity_type":"gene"},{"created":"2021-01-16T11:17:08.484553+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CYLD: Changed phenotypes: Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132","entity_name":"CYLD","entity_type":"gene"},{"created":"2021-01-16T11:15:18.618101+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MORC2 as ready","entity_name":"MORC2","entity_type":"gene"},{"created":"2021-01-16T11:15:18.607962+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: morc2 has been classified as Green List (High Evidence).","entity_name":"MORC2","entity_type":"gene"},{"created":"2021-01-16T11:15:14.900456+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MORC2 as Green List (high evidence)","entity_name":"MORC2","entity_type":"gene"},{"created":"2021-01-16T11:15:14.889831+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: morc2 has been classified as Green List (High Evidence).","entity_name":"MORC2","entity_type":"gene"},{"created":"2021-01-16T11:15:06.059297+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MORC2 was added\ngene: MORC2 was added to Syndromic Retinopathy. Sources: Literature\nMode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MORC2 were set to 32693025\nPhenotypes for gene: MORC2 were set to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090\nReview for gene: MORC2 was set to GREEN\nAdded comment: Cohort of 20 individuals with a complex neurodevelopmental phenotype comprising DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Features suggestive of neuropathy (weakness, hyporeflexia, abnormal EMG/NCS) were frequent but not the predominant complaint. EMG/NCS abnormalities were abnormal in 6 out of 10 subjects investigated in this cohort. Other findings included brain MRI abnormalities (12/18 - in 5/18 Leigh-like lesions), hearing loss (11/19) and pigmentary retinopathy in few (5). \nSources: Literature","entity_name":"MORC2","entity_type":"gene"},{"created":"2021-01-16T11:13:10.273682+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MORC2 as ready","entity_name":"MORC2","entity_type":"gene"},{"created":"2021-01-16T11:13:10.262830+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: morc2 has been classified as Green List (High Evidence).","entity_name":"MORC2","entity_type":"gene"},{"created":"2021-01-16T11:13:05.704399+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MORC2 as Green List (high evidence)","entity_name":"MORC2","entity_type":"gene"},{"created":"2021-01-16T11:13:05.695967+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: morc2 has been classified as Green List (High Evidence).","entity_name":"MORC2","entity_type":"gene"},{"created":"2021-01-16T11:12:53.543258+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MORC2 was added\ngene: MORC2 was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MORC2 were set to 32693025; 26497905; 26659848\nPhenotypes for gene: MORC2 were set to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090\nReview for gene: MORC2 was set to GREEN\nAdded comment: Reported in 5 families with isolated CMT. Recent cohort of 20 individuals with more complex neurodevelopmental phenotype comprising DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Features suggestive of neuropathy (weakness, hyporeflexia, abnormal EMG/NCS) were frequent but not the predominant complaint. EMG/NCS abnormalities were abnormal in 6 out of 10 subjects investigated in this cohort. Other findings included brain MRI abnormalities (12/18 - in 5/18 Leigh-like lesions), hearing loss (11/19) and pigmentary retinopathy in few (5). \nSources: Literature","entity_name":"MORC2","entity_type":"gene"},{"created":"2021-01-16T11:09:35.556434+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MORC2 were changed from Developmental delay; Intellectual disability; Growth retardation; Microcephaly; Craniofacial dysmorphism; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090; Developmental delay; Intellectual disability; Growth retardation; Microcephaly; Craniofacial dysmorphism; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688","entity_name":"MORC2","entity_type":"gene"},{"created":"2021-01-16T11:08:59.194647+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.44","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MORC2: Changed phenotypes: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090, Developmental delay, Intellectual disability, Growth retardation, Microcephaly, Craniofacial dysmorphism, Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688","entity_name":"MORC2","entity_type":"gene"},{"created":"2021-01-16T11:08:28.236483+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6027","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MORC2 were changed from Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; Intellectual disability to Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM#\t619090","entity_name":"MORC2","entity_type":"gene"},{"created":"2021-01-16T11:07:52.057190+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6026","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MORC2: Changed phenotypes: Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688, Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090","entity_name":"MORC2","entity_type":"gene"},{"created":"2021-01-16T11:07:27.196407+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3382","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MORC2 were changed from Charcot-Marie-Tooth disease, axonal, type 2Z, MIM #616688; Intellectual disability to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM#\t619090; Intellectual disability","entity_name":"MORC2","entity_type":"gene"},{"created":"2021-01-16T11:06:42.289394+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3381","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MORC2: Changed phenotypes: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090, Intellectual disability","entity_name":"MORC2","entity_type":"gene"},{"created":"2021-01-15T14:40:28.943622+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6026","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: PPP2R5D: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32074998, 26168268; Phenotypes: Mental retardation, autosomal dominant 35, MIM#616355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"PPP2R5D","entity_type":"gene"},{"created":"2021-01-15T12:47:59.812353+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6026","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 22715153, 32424177; Phenotypes: SBBYSS syndrome MIM#603736, Genitopatellar syndrome MIM#606170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"KAT6B","entity_type":"gene"},{"created":"2021-01-12T16:06:56.369094+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6026","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: DVL1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25817014, 25817016; Phenotypes: Robinow syndrome, autosomal dominant 2 (MIM#616331); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","entity_name":"DVL1","entity_type":"gene"},{"created":"2021-01-12T10:29:55.489035+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6026","user_name":"Sebastian Lunke","item_type":"entity","text":"reviewed gene: ZFP36L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown","entity_name":"ZFP36L1","entity_type":"gene"},{"created":"2021-01-11T15:50:12.739147+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1001","user_name":"Emma Goss","item_type":"entity","text":"Deleted their review","entity_name":"SCAMP5","entity_type":"gene"},{"created":"2021-01-11T15:49:11.107568+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1001","user_name":"Emma Goss","item_type":"entity","text":"changed review comment from: An additional four unrelated patients with the previously reported missense variant  de\r\nnovo SCAMP5 variant (p. Gly180Trp) from three countries,\r\nincluding detailed descriptions of initial clinical presentations\r\nand long-term follow-up (ranged from 1 to 33 years).\r\n\r\n: Epilepsy, severe developmental delay, abnormal neurological exam findings,\r\nwith or without ASD or variably dysmorphic features and were common in patients with\r\nSCAMP5 variant. The onset time and type of seizure varied greatly. The EEG and brain MRI\r\nfindings were not consistent, but diverse and nonspecific. The motor ability of patients with\r\nEdited by:\r\nTieliu Shi,\r\nEast China Normal University, China\r\nReviewed by:\r\nJuliet Taylor,\r\nThe University of Melbourne, Australia\r\nChin Moi Chow,\r\nThe University of Sydney, Australia\r\n*Correspondence:\r\nXiaodong Wang\r\nxdwang@ciphergene.com\r\nZhixian Yang\r\nzhixian.yang@163.com\r\nSpecialty section:\r\nThis article was submitted to\r\nTranslational Pharmacology,\r\na section of the journal\r\nFrontiers in Pharmacology\r\nReceived: 26 August 2020\r\nAccepted: 11 November 2020\r\nPublished: 18 December 2020\r\nCitation:\r\nJiao X, Morleo M, Nigro V, Torella A,\r\nD’Arrigo S, Ciaccio C, Pantaleoni C,\r\nGong P, Grand K, Sanchez-Lara PA,\r\nKrier J, Fieg E, Stergachis A, Wang X\r\nand Yang Z (2020) Identification of an\r\nIdentical de Novo SCAMP5 Missense\r\nVariant in Four Unrelated Patients With\r\nSeizures and Severe\r\nNeurodevelopmental Delay.\r\nFront. Pharmacol. 11:599191.\r\ndoi: 10.3389/fphar.2020.599191\r\nFrontiers in Pharmacology | www.frontiersin.org 1 December 2020 | Volume 11 | Article 599191\r\nORIGINAL RESEARCH\r\npublished: 18 December 2020\r\ndoi: 10.3389/fphar.2020.599191\r\nheterozygous SCAMP5 variant might have a regressive course; language development\r\nwas more severely affected.; to: An additional four unrelated patients with the previously reported missense variant  de\r\nnovo SCAMP5 variant (p. Gly180Trp) from three countries,\r\nincluding detailed descriptions of initial clinical presentations\r\nand long-term follow-up (ranged from 1 to 33 years).\r\n\r\n Epilepsy, severe developmental delay, abnormal neurological exam findings,\r\nwith or without ASD or variably dysmorphic features and were common in patients with\r\nSCAMP5 variant. The onset time and type of seizure varied greatly. The EEG and brain MRI\r\nfindings were not consistent, but diverse and nonspecific. \r\nheterozygous SCAMP5 variant might have a regressive course.","entity_name":"SCAMP5","entity_type":"gene"},{"created":"2021-01-11T15:48:11.544076+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1001","user_name":"Emma Goss","item_type":"entity","text":"reviewed gene: SCAMP5: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SCAMP5","entity_type":"gene"},{"created":"2021-01-11T10:38:14.072894+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.15","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: THSD4 as Green List (high evidence)","entity_name":"THSD4","entity_type":"gene"},{"created":"2021-01-11T10:38:14.066277+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.15","user_name":"Chirag Patel","item_type":"entity","text":"Gene: thsd4 has been classified as Green List (High Evidence).","entity_name":"THSD4","entity_type":"gene"},{"created":"2021-01-11T10:37:52.951755+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.14","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: THSD4 as Green List (high evidence)","entity_name":"THSD4","entity_type":"gene"},{"created":"2021-01-11T10:37:52.941219+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.14","user_name":"Chirag Patel","item_type":"entity","text":"Gene: thsd4 has been classified as Green List (High Evidence).","entity_name":"THSD4","entity_type":"gene"},{"created":"2021-01-11T10:37:22.280224+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.13","user_name":"Chirag Patel","item_type":"entity","text":"gene: THSD4 was added\ngene: THSD4 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: THSD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: THSD4 were set to PMID: 32855533\nPhenotypes for gene: THSD4 were set to Thoracic aortic aneurysm and dissection (TAAD)\nReview for gene: THSD4 was set to GREEN\ngene: THSD4 was marked as current diagnostic\nAdded comment: 5 functional heterozygous variants in THSD4 (two lead to a premature termination codon) found in 5 families with TAAD. Variants segregated with disease in other family members. THSD4 encodes ADAMTSL6, a microfibril-associated protein that promotes fibrillin-1 matrix assembly. The THSD4 variants studied lead to haploinsufficiency or impaired assembly of fibrillin-1 microfibrils. Thsd4+/- mice showed progressive dilation of the thoracic aorta. Histologic examination of aortic samples from a patient carrying a THSD4 variant and from Thsd4+/- mice, revealed typical medial degeneration and diffuse disruption of extracellular matrix. \nSources: Literature","entity_name":"THSD4","entity_type":"gene"},{"created":"2021-01-11T10:36:51.813960+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.12","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: THSD4-AS1 as Red List (low evidence)","entity_name":"THSD4-AS1","entity_type":"gene"},{"created":"2021-01-11T10:36:51.803102+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.12","user_name":"Chirag Patel","item_type":"entity","text":"Gene: thsd4-as1 has been classified as Red List (Low Evidence).","entity_name":"THSD4-AS1","entity_type":"gene"},{"created":"2021-01-11T10:36:47.597332+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.11","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: THSD4-AS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"THSD4-AS1","entity_type":"gene"},{"created":"2021-01-11T10:36:08.974477+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.11","user_name":"Chirag Patel","item_type":"entity","text":"Deleted their review","entity_name":"THSD4-AS1","entity_type":"gene"},{"created":"2021-01-11T10:33:45.430546+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.11","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: THSD4-AS1 as Green List (high evidence)","entity_name":"THSD4-AS1","entity_type":"gene"},{"created":"2021-01-11T10:33:45.420696+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.11","user_name":"Chirag Patel","item_type":"entity","text":"Gene: thsd4-as1 has been classified as Green List (High Evidence).","entity_name":"THSD4-AS1","entity_type":"gene"},{"created":"2021-01-11T10:33:25.355956+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.11","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: THSD4-AS1 as Green List (high evidence)","entity_name":"THSD4-AS1","entity_type":"gene"},{"created":"2021-01-11T10:33:25.347480+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.11","user_name":"Chirag Patel","item_type":"entity","text":"Gene: thsd4-as1 has been classified as Green List (High Evidence).","entity_name":"THSD4-AS1","entity_type":"gene"},{"created":"2021-01-11T10:32:42.102081+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.10","user_name":"Chirag Patel","item_type":"entity","text":"gene: THSD4-AS1 was added\ngene: THSD4-AS1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: THSD4-AS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: THSD4-AS1 were set to PMID: 32855533\nPhenotypes for gene: THSD4-AS1 were set to Thoracic aortic aneurysm and dissection (TAAD)\nReview for gene: THSD4-AS1 was set to GREEN\ngene: THSD4-AS1 was marked as current diagnostic\nAdded comment: 5 functional heterozygous variants in THSD4 (two lead to a premature termination codon) found in 5 families with TAAD. Variants segregated with disease in other family members. THSD4 encodes ADAMTSL6, a microfibril-associated protein that promotes fibrillin-1 matrix assembly. The THSD4 variants studied lead to haploinsufficiency or impaired assembly of fibrillin-1 microfibrils. Thsd4+/- mice showed progressive dilation of the thoracic aorta. Histologic examination of aortic samples from a patient carrying a THSD4 variant and from Thsd4+/- mice, revealed typical medial degeneration and diffuse disruption of extracellular matrix. \nSources: Literature","entity_name":"THSD4-AS1","entity_type":"gene"},{"created":"2021-01-09T22:00:39.361843+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6026","user_name":"Eleanor Williams","item_type":"entity","text":"reviewed gene: TSPYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32885560, 33075815; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome OMIM:608800, sudden infant death-dysgenesis of the testes syndrome MONDO:0012124; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSPYL1","entity_type":"gene"},{"created":"2021-01-09T00:27:06.273647+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6026","user_name":"Arina Puzriakova","item_type":"entity","text":"reviewed gene: ZNF526: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 25558065, 33397746; Phenotypes: Intellectual disability, Microcephaly, Cataracts, Epilepsy, Hypertonia, Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZNF526","entity_type":"gene"},{"created":"2021-01-08T21:13:13.471510+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INTS6 as ready","entity_name":"INTS6","entity_type":"gene"},{"created":"2021-01-08T21:13:13.461052+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ints6 has been classified as Red List (Low Evidence).","entity_name":"INTS6","entity_type":"gene"},{"created":"2021-01-08T21:13:10.307196+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: INTS6 as Red List (low evidence)","entity_name":"INTS6","entity_type":"gene"},{"created":"2021-01-08T21:13:10.297102+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ints6 has been classified as Red List (Low Evidence).","entity_name":"INTS6","entity_type":"gene"},{"created":"2021-01-08T21:12:33.567791+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6026","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INTS6 as ready","entity_name":"INTS6","entity_type":"gene"},{"created":"2021-01-08T21:12:33.556596+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6026","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ints6 has been classified as Red List (Low Evidence).","entity_name":"INTS6","entity_type":"gene"},{"created":"2021-01-08T21:12:22.446879+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6026","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: INTS6 as Red List (low evidence)","entity_name":"INTS6","entity_type":"gene"},{"created":"2021-01-08T21:12:22.436941+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6026","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ints6 has been classified as Red List (Low Evidence).","entity_name":"INTS6","entity_type":"gene"},{"created":"2021-01-08T21:11:46.160680+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6025","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCS1L as ready","entity_name":"BCS1L","entity_type":"gene"},{"created":"2021-01-08T21:11:46.151497+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6025","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcs1l has been classified as Green List (High Evidence).","entity_name":"BCS1L","entity_type":"gene"},{"created":"2021-01-08T21:11:38.463780+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6025","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BCS1L were changed from  to Bjornstad syndrome MIM#262000; GRACILE syndrome, MIM#603358; Mitochondrial complex III deficiency, nuclear type MIM#1124000","entity_name":"BCS1L","entity_type":"gene"},{"created":"2021-01-08T21:11:18.482074+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6024","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BCS1L were set to ","entity_name":"BCS1L","entity_type":"gene"},{"created":"2021-01-08T21:10:59.306978+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6023","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BCS1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BCS1L","entity_type":"gene"},{"created":"2021-01-08T21:10:36.665789+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6022","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BCS1L: Changed phenotypes: Bjornstad syndrome, MIM# 262000, Leigh syndrome, MIM# 256000, BCS1L-related mitochondrial disease","entity_name":"BCS1L","entity_type":"gene"},{"created":"2021-01-08T21:10:04.525627+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6022","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BCS1L: Changed publications: 26563427, 24172246, 17314340","entity_name":"BCS1L","entity_type":"gene"},{"created":"2021-01-08T21:09:34.787069+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6022","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BCS1L","entity_type":"gene"},{"created":"2021-01-08T21:08:01.880693+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6022","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRPS22 as ready","entity_name":"MRPS22","entity_type":"gene"},{"created":"2021-01-08T21:08:01.869775+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6022","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrps22 has been classified as Green List (High Evidence).","entity_name":"MRPS22","entity_type":"gene"},{"created":"2021-01-08T21:07:54.222459+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6022","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPS22 were changed from  to Combined oxidative phosphorylation deficiency 5 MIM#611719; Ovarian dysgenesis 7 MIM#618117","entity_name":"MRPS22","entity_type":"gene"},{"created":"2021-01-08T21:07:35.136582+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6021","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MRPS22 were set to ","entity_name":"MRPS22","entity_type":"gene"},{"created":"2021-01-08T21:07:17.332226+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6020","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MRPS22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MRPS22","entity_type":"gene"},{"created":"2021-01-08T21:02:38.647647+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2021-01-08T21:02:16.604685+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2021-01-08T13:40:26.051273+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6019","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 26176760, 20798280, 31638346, 18219278, 16505000; Phenotypes: Epidermolytic hyperkeratosis, MIM#113800, Ichthyosis with confetti, MIM#609165, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM#607602; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"KRT10","entity_type":"gene"},{"created":"2021-01-08T13:23:27.445426+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6019","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: BRPF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32652122, 27939640; Phenotypes: Intellectual developmental disorder with dysmorphic facies and ptosis MIM#617333; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"BRPF1","entity_type":"gene"},{"created":"2021-01-08T13:00:28.154098+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.128","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: INTS6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"INTS6","entity_type":"gene"},{"created":"2021-01-08T13:00:13.817645+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6019","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: INTS6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown","entity_name":"INTS6","entity_type":"gene"},{"created":"2021-01-08T12:55:13.298887+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6019","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17314340; Phenotypes: Bjornstad syndrome MIM#262000, GRACILE syndrome, MIM#603358, Mitochondrial complex III deficiency, nuclear type MIM#1124000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"BCS1L","entity_type":"gene"},{"created":"2021-01-08T12:53:54.841529+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6019","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29566152; Phenotypes: Combined oxidative phosphorylation deficiency 5 MIM#611719, Ovarian dysgenesis 7 MIM#618117; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MRPS22","entity_type":"gene"},{"created":"2021-01-07T17:44:51.725070+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NUDT2 as ready","entity_name":"NUDT2","entity_type":"gene"},{"created":"2021-01-07T17:44:51.714194+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nudt2 has been classified as Green List (High Evidence).","entity_name":"NUDT2","entity_type":"gene"}]}