{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=152","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=150","results":[{"created":"2025-10-09T17:33:05.984479+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.48","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene DNMT1 were changed from 22328086, 23904686, 24727570, 25678562, 23521649, 23365052, 21532572, 27602171, 25033457, 31984424 to 22328086, 23904686, 24727570, 25678562, 23521649, 23365052, 21532572, 27602171, 25033457, 31984424","entity_name":"DNMT1","entity_type":"gene"},{"created":"2025-10-09T17:32:36.457795+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3357","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from DNMT1.\nSource ClinGen was added to DNMT1.\nSource Literature was added to DNMT1.\nPhenotypes for gene: DNMT1 were changed from Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121; Neuropathy, hereditary sensory, type IE, 614116 to Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584\nPublications for gene DNMT1 were changed from 22328086, 23904686, 24727570, 25678562, 23521649, 23365052, 21532572, 27602171, 25033457, 31984424 to 22328086, 23904686, 24727570, 25678562, 23521649, 23365052, 21532572, 27602171, 25033457, 31984424","entity_name":"DNMT1","entity_type":"gene"},{"created":"2025-10-09T17:32:26.106012+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.232","user_name":"Chirag Patel","item_type":"entity","text":"Source Melbourne Genomics Health Alliance Deafness Flagship was removed from DNMT1.\nSource Victorian Clinical Genetics Services was removed from DNMT1.\nSource ClinGen was added to DNMT1.\nSource Literature was added to DNMT1.\nPhenotypes for gene: DNMT1 were changed from Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121; Neuropathy, hereditary sensory, type IE, 614116 to Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584\nPublications for gene DNMT1 were changed from 22328086, 23904686, 24727570, 25678562, 23521649, 23365052, 21532572, 27602171, 25033457, 31984424 to 22328086, 23904686, 24727570, 25678562, 23521649, 23365052, 21532572, 27602171, 25033457, 31984424","entity_name":"DNMT1","entity_type":"gene"},{"created":"2025-10-09T17:29:49.534307+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.47","user_name":"Chirag Patel","item_type":"entity","text":"Source Melbourne Genomics Health Alliance Complex Neurology Flagship was removed from DNMT1.\nSource Victorian Clinical Genetics Services was removed from DNMT1.\nSource ClinGen was added to DNMT1.\nMode of inheritance for gene DNMT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DNMT1 were changed from  to Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584\nPublications for gene DNMT1 were changed from 22328086, 23904686, 24727570, 25678562, 23521649, 23365052, 21532572, 27602171, 25033457 to 22328086, 23904686, 24727570, 25678562, 23521649, 23365052, 21532572, 27602171, 25033457","entity_name":"DNMT1","entity_type":"gene"},{"created":"2025-10-09T17:22:04.312876+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3356","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from DNM1L.\nSource Literature was added to DNM1L.\nSource ClinGen was added to DNM1L.\nPhenotypes for gene: DNM1L were changed from Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR); Optic atrophy 5 - MIM#610708 (AD) to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726; Optic atrophy 5 - MIM#610708 (AD)\nPublications for gene DNM1L were changed from 31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748, 28969390, 30850373, 17460227 to 31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748, 28969390, 30850373, 17460227","entity_name":"DNM1L","entity_type":"gene"},{"created":"2025-10-09T17:21:39.037235+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.347","user_name":"Chirag Patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from DNM1L.\nSource ClinGen was added to DNM1L.\nSource Literature was added to DNM1L.\nMode of pathogenicity for gene DNM1L was changed from  to Other\nPhenotypes for gene: DNM1L were changed from Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388 to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726\nPublications for gene DNM1L were changed from 31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748 to 31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748","entity_name":"DNM1L","entity_type":"gene"},{"created":"2025-10-09T17:21:38.078863+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.1082","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from DNM1L.\nSource Australian Genomics Health Alliance Mitochondrial Flagship was removed from DNM1L.\nSource ClinGen was added to DNM1L.\nSource Literature was added to DNM1L.\nMode of inheritance for gene DNM1L was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nMode of pathogenicity for gene DNM1L was changed from  to Other\nPhenotypes for gene: DNM1L were changed from  to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726\nPublications for gene DNM1L were changed from 31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748 to 31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748","entity_name":"DNM1L","entity_type":"gene"},{"created":"2025-10-09T17:21:31.840670+11:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.55","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from DNM1L.\nSource Literature was added to DNM1L.\nSource ClinGen was added to DNM1L.\nMode of inheritance for gene DNM1L was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nMode of pathogenicity for gene DNM1L was changed from  to Other\nPhenotypes for gene: DNM1L were changed from  to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726\nPublications for gene DNM1L were changed from 31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748 to 31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748","entity_name":"DNM1L","entity_type":"gene"},{"created":"2025-10-09T17:21:25.085203+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.239","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from DNM1L.\nSource Australian Genomics Health Alliance Epilepsy Flagship was removed from DNM1L.\nSource ClinGen was added to DNM1L.\nSource Literature was added to DNM1L.\nMode of pathogenicity for gene DNM1L was changed from  to Other\nPhenotypes for gene: DNM1L were changed from Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR) to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726\nPublications for gene DNM1L were changed from 31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748 to 31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748","entity_name":"DNM1L","entity_type":"gene"},{"created":"2025-10-09T17:20:38.869086+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.436","user_name":"Chirag Patel","item_type":"entity","text":"Source Genomics England PanelApp was removed from DNM1L.\nSource Genetic Health Queensland was removed from DNM1L.\nSource ClinGen was added to DNM1L.\nSource Literature was added to DNM1L.\nPhenotypes for gene: DNM1L were changed from Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726\nPublications for gene DNM1L were changed from 31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748 to 31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748","entity_name":"DNM1L","entity_type":"gene"},{"created":"2025-10-09T17:07:46.604983+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3355","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from DES.\nSource ClinGen was added to DES.\nSource Literature was added to DES.\nPhenotypes for gene: DES were changed from Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419; Arrhythmogenic right ventricular cardiomyopathy to Cardiomyopathy, dilated, 1I, MIM# 604765; Myofibrillar myopathy 1, MONDO:0011076; Arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587\nPublications for gene DES were changed from 10430757, 11728149, 17325244, 23300193, 31514951, 26724190, 23349452, 25557463, 19879535, 33947203, 19879535, 20423733, 23168288, 20829228, 22403400, 29212896, 22395865, 20718792 to 10430757, 11728149, 17325244, 23300193, 31514951, 26724190, 23349452, 25557463, 19879535, 33947203, 19879535, 20423733, 23168288, 20829228, 22403400, 29212896, 22395865, 20718792","entity_name":"DES","entity_type":"gene"},{"created":"2025-10-09T17:06:30.839997+11:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.63","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: DES were changed from Myopathy, myofibrillar, 1 601419 to Myofibrillar myopathy 1, MONDO:0011076\nPublications for gene DES were changed from 22395865, 20718792 to 22395865, 20718792","entity_name":"DES","entity_type":"gene"},{"created":"2025-10-09T17:05:48.812372+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.73","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene DES were changed from 19879535, 20423733, 23168288, 20829228, 22403400, 29212896, 22395865, 20718792 to 19879535, 20423733, 23168288, 20829228, 22403400, 29212896, 22395865, 20718792","entity_name":"DES","entity_type":"gene"},{"created":"2025-10-09T17:00:06.782286+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.72","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: DES were changed from Cardiomyopathy, dilated, 1I, MIM#\t604765; Myopathy, myofibrillar, 1\t, MIM#601419; Arrhythmogenic right ventricular cardiomyopathy to Arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587\nPublications for gene DES were changed from 19879535, 20423733, 23168288, 20829228, 22403400, 29212896, 20718792 to 19879535, 20423733, 23168288, 20829228, 22403400, 29212896, 20718792","entity_name":"DES","entity_type":"gene"},{"created":"2025-10-09T16:54:43.584573+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.47","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from DES.\nSource ClinGen was added to DES.\nPublications for gene DES were changed from 10430757, 11728149, 17325244, 23300193, 31514951, 26724190, 23349452, 25557463, 19879535, 33947203 to 10430757, 11728149, 17325244, 23300193, 31514951, 26724190, 23349452, 25557463, 19879535, 33947203","entity_name":"DES","entity_type":"gene"},{"created":"2025-10-09T16:47:30.183414+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.231","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene DAAM2 were changed from 33232676; 38860410 to 33232676; 38860410","entity_name":"DAAM2","entity_type":"gene"},{"created":"2025-10-09T16:47:27.823591+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3354","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene DAAM2 were changed from 33232676; 38860410; 36972684 to 33232676; 38860410; 36972684","entity_name":"DAAM2","entity_type":"gene"},{"created":"2025-10-09T16:43:57.212741+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3353","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: FAP was added\ngene: FAP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FAP were set to 40949908\nPhenotypes for gene: FAP were set to congenital pulmonary airway malformation MONDO:0016580\nReview for gene: FAP was set to RED\nAdded comment: Only 1 reported fetus with a diagnosis of congenital pulmonary airway malformation\r\nHeterozygous variant identified - c.T269G:p.L90W.\r\nThe variant is present in gnomAD v4.1 - EAS AF - 0.007% (4 hets) \nSources: Literature","entity_name":"FAP","entity_type":"gene"},{"created":"2025-10-09T16:34:59.541185+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.435","user_name":"Sarah Milton","item_type":"entity","text":"reviewed gene: PDIA6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40974269, 35856135, 33495992; Phenotypes: multiple congenital anomalies, MONDO:0019042, PDIA6-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDIA6","entity_type":"gene"},{"created":"2025-10-09T16:34:41.340532+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.147","user_name":"Sarah Milton","item_type":"entity","text":"reviewed gene: PDIA6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40974269, 35856135, 33495992; Phenotypes: multiple congenital anomalies, MONDO:0019042, PDIA6-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDIA6","entity_type":"gene"},{"created":"2025-10-09T16:34:24.825851+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.40","user_name":"Sarah Milton","item_type":"entity","text":"reviewed gene: PDIA6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40974269, 35856135, 33495992; Phenotypes: multiple congenital anomalies, MONDO:0019042, PDIA6-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDIA6","entity_type":"gene"},{"created":"2025-10-09T16:34:07.889900+11:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"1.15","user_name":"Sarah Milton","item_type":"entity","text":"reviewed gene: PDIA6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40974269, 35856135, 33495992; Phenotypes: multiple congenital anomalies, MONDO:0019042, PDIA6-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDIA6","entity_type":"gene"},{"created":"2025-10-09T16:33:45.597377+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.88","user_name":"Sarah Milton","item_type":"entity","text":"reviewed gene: PDIA6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40974269, 35856135, 33495992; Phenotypes: multiple congenital anomalies, MONDO:0019042, PDIA6-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDIA6","entity_type":"gene"},{"created":"2025-10-09T16:32:42.944232+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3353","user_name":"Sarah Milton","item_type":"entity","text":"edited their review of gene: PDIA6: Changed phenotypes: multiple congenital anomalies, MONDO:0019042, PDIA6-related","entity_name":"PDIA6","entity_type":"gene"},{"created":"2025-10-09T16:18:21.778692+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.346","user_name":"Sarah Milton","item_type":"entity","text":"changed review comment from: SF1 is involved in the first step of spliceosome complex assembly by recognizing the intron branchpoint consensus sequence at the 3′ splice site of the pre-mRNA. It is also involved in regulating alternative splicing\r\n\r\nPMID: 40987292 describes 15 affected individuals with a neurodevelopmental disorder with monoallelic variants in SF1. Affected individuals had developmental delay, mild to moderate ID, behavioural disorders, seizures (3/15), brachydactyly (5/15), nail hypoplasia (5/15).\r\nVariant types included missense and high impact LOF (nonsense and frameshift).\r\n\r\nMost variants were appropriately rare in gnomAD v4 however one reported variant had 9 hets.\r\npLI for SF1 is 1 with overall few LOF variants in gene.\r\n\r\nSupportive functional studies reported in publication. SF1 deficient neural progenitor cells showed altered gene expression in genes involved in neuronal differentiation/synaptic transmission and axonal guidance. \nSources: Literature; to: SF1 is involved in the first step of spliceosome complex assembly by recognizing the intron branchpoint consensus sequence at the 3′ splice site of the pre-mRNA. It is also involved in regulating alternative splicing\r\n\r\nPMID: 40987292 describes 15 affected individuals with a neurodevelopmental disorder with monoallelic variants in SF1. Affected individuals had developmental delay, mild to moderate ID, behavioural disorders, seizures (3/15), brachydactyly (5/15), nail hypoplasia (5/15).\r\n12 confirmed to have de novo variants including missense and high impact LOF (nonsense and frameshift).\r\n\r\nMost variants were appropriately rare in gnomAD v4 however one reported variant had 9 hets.\r\npLI for SF1 is 1 with overall few LOF variants in gene.\r\n\r\nSupportive functional studies reported in publication. SF1 deficient neural progenitor cells showed altered gene expression in genes involved in neuronal differentiation/synaptic transmission and axonal guidance. \r\nSources: Literature","entity_name":"SF1","entity_type":"gene"},{"created":"2025-10-09T16:16:42.142092+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3353","user_name":"Sarah Milton","item_type":"entity","text":"changed review comment from: SF1 is involved in the first step of spliceosome complex assembly by recognizing the intron branchpoint consensus sequence at the 3′ splice site of the pre-mRNA. It is also involved in regulating alternative splicing\r\n\r\nPMID: 40987292 describes 15 affected individuals with a neurodevelopmental disorder with monoallelic variants in SF1. Affected individuals had developmental delay, mild to moderate ID, behavioural disorders, seizures (3/15), brachydactyly (5/15), nail hypoplasia (5/15). \r\nVariant types included missense and high impact LOF (nonsense and frameshift).\r\n\r\nMost variants were appropriately rare in gnomAD v4 however one reported variant had 9 hets. \r\npLI for SF1 is 1 with overall few LOF variants in gene. \r\n\r\nSupportive functional studies reported in publication.  SF1 deficient neural progenitor cells showed altered gene expression in genes involved in neuronal differentiation/synaptic transmission and axonal guidance. \nSources: Literature; to: SF1 is involved in the first step of spliceosome complex assembly by recognizing the intron branchpoint consensus sequence at the 3′ splice site of the pre-mRNA. It is also involved in regulating alternative splicing\r\n\r\nPMID: 40987292 describes 15 affected individuals with a neurodevelopmental disorder with monoallelic variants in SF1. Affected individuals had developmental delay, mild to moderate ID, behavioural disorders, seizures (3/15), brachydactyly (5/15), nail hypoplasia (5/15). \r\n12 confirmed to have de novo variants including missense and high impact LOF (nonsense and frameshift).\r\n\r\nMost variants were appropriately rare in gnomAD v4 however one reported variant had 9 hets. \r\npLI for SF1 is 1 with overall few LOF variants in gene. \r\n\r\nSupportive functional studies reported in publication.  SF1 deficient neural progenitor cells showed altered gene expression in genes involved in neuronal differentiation/synaptic transmission and axonal guidance. \r\nSources: Literature","entity_name":"SF1","entity_type":"gene"},{"created":"2025-10-09T15:55:51.439613+11:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"1.36","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: DCTN1 were changed from Perry syndrome, MIM# 168605 to Perry syndrome, MONDO:0008201\nPublications for gene DCTN1 were changed from 20945553, 19136952, 24343258 to 20945553, 19136952, 24343258","entity_name":"DCTN1","entity_type":"gene"},{"created":"2025-10-09T15:55:43.400094+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.46","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: DCTN1 were changed from Perry syndrome, MIM# 168605 to Perry syndrome, MONDO:0008201\nPublications for gene DCTN1 were changed from 20945553, 19136952, 24343258 to 20945553, 19136952, 24343258","entity_name":"DCTN1","entity_type":"gene"},{"created":"2025-10-09T15:55:38.600385+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.41","user_name":"Chirag Patel","item_type":"entity","text":"Source Melbourne Genomics Health Alliance Complex Neurology Flagship was removed from DCTN1.\nSource Victorian Clinical Genetics Services was removed from DCTN1.\nSource Expert list was added to DCTN1.\nPhenotypes for gene: DCTN1 were changed from Perry syndrome MONDO:0008201 to Perry syndrome, MONDO:0008201\nPublications for gene DCTN1 were changed from 20945553, 19136952, 24343258 to 20945553, 19136952, 24343258","entity_name":"DCTN1","entity_type":"gene"},{"created":"2025-10-09T15:54:16.049715+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.346","user_name":"Sarah Milton","item_type":"entity","text":"gene: SF1 was added\ngene: SF1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SF1 were set to PMID: 40987292\nPhenotypes for gene: SF1 were set to Neurodevelopmental disorder, MONDO:0700092, SF1-related\nReview for gene: SF1 was set to GREEN\nAdded comment: SF1 is involved in the first step of spliceosome complex assembly by recognizing the intron branchpoint consensus sequence at the 3′ splice site of the pre-mRNA. It is also involved in regulating alternative splicing\r\n\r\nPMID: 40987292 describes 15 affected individuals with a neurodevelopmental disorder with monoallelic variants in SF1. Affected individuals had developmental delay, mild to moderate ID, behavioural disorders, seizures (3/15), brachydactyly (5/15), nail hypoplasia (5/15).\r\nVariant types included missense and high impact LOF (nonsense and frameshift).\r\n\r\nMost variants were appropriately rare in gnomAD v4 however one reported variant had 9 hets.\r\npLI for SF1 is 1 with overall few LOF variants in gene.\r\n\r\nSupportive functional studies reported in publication. SF1 deficient neural progenitor cells showed altered gene expression in genes involved in neuronal differentiation/synaptic transmission and axonal guidance. \nSources: Literature","entity_name":"SF1","entity_type":"gene"},{"created":"2025-10-09T15:52:57.882231+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3353","user_name":"Sarah Milton","item_type":"entity","text":"gene: SF1 was added\ngene: SF1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SF1 were set to PMID: 40987292\nPhenotypes for gene: SF1 were set to Neurodevelopmental disorder, MONDO:0700092, SF1-related\nReview for gene: SF1 was set to GREEN\nAdded comment: SF1 is involved in the first step of spliceosome complex assembly by recognizing the intron branchpoint consensus sequence at the 3′ splice site of the pre-mRNA. It is also involved in regulating alternative splicing\r\n\r\nPMID: 40987292 describes 15 affected individuals with a neurodevelopmental disorder with monoallelic variants in SF1. Affected individuals had developmental delay, mild to moderate ID, behavioural disorders, seizures (3/15), brachydactyly (5/15), nail hypoplasia (5/15). \r\nVariant types included missense and high impact LOF (nonsense and frameshift).\r\n\r\nMost variants were appropriately rare in gnomAD v4 however one reported variant had 9 hets. \r\npLI for SF1 is 1 with overall few LOF variants in gene. \r\n\r\nSupportive functional studies reported in publication.  SF1 deficient neural progenitor cells showed altered gene expression in genes involved in neuronal differentiation/synaptic transmission and axonal guidance. \nSources: Literature","entity_name":"SF1","entity_type":"gene"},{"created":"2025-10-09T15:52:53.677474+11:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"1.35","user_name":"Chirag Patel","item_type":"entity","text":"Source Royal Melbourne Hospital was removed from DCTN1.\nSource Victorian Clinical Genetics Services was removed from DCTN1.\nSource Melbourne Genomics Health Alliance Complex Neurology Flagship was removed from DCTN1.\nSource Victorian Clinical Genetics Services was removed from DCTN1.\nSource Literature was added to DCTN1.\nMode of inheritance for gene DCTN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DCTN1 were changed from  to Perry syndrome, MIM# 168605\nPublications for gene DCTN1 were changed from 19136952, 24343258 to 19136952, 24343258","entity_name":"DCTN1","entity_type":"gene"},{"created":"2025-10-09T15:52:26.055215+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.45","user_name":"Chirag Patel","item_type":"entity","text":"Source Melbourne Genomics Health Alliance Complex Neurology Flagship was removed from DCTN1.\nSource Victorian Clinical Genetics Services was removed from DCTN1.\nSource Literature was added to DCTN1.\nPublications for gene DCTN1 were changed from 19136952, 24343258 to 19136952, 24343258","entity_name":"DCTN1","entity_type":"gene"},{"created":"2025-10-09T15:47:49.442744+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.337","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from DDR2.\nSource ClinGen was added to DDR2.\nPhenotypes for gene: DDR2 were changed from Spondylometaepiphyseal dysplasia, short limb-hand type 271665; Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported to Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, MONDO:0010077\nPublications for gene DDR2 were changed from 19110212, 20223752, 24725993, 31406622, 33953858, 29884795, 35221872 to 19110212, 20223752, 24725993, 31406622, 33953858, 29884795, 35221872","entity_name":"DDR2","entity_type":"gene"},{"created":"2025-10-09T15:47:43.675244+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.238","user_name":"Chirag Patel","item_type":"entity","text":"Source Genomics England PanelApp was removed from DDR2.\nSource Genetic Health Queensland was removed from DDR2.\nSource Victorian Clinical Genetics Services was removed from DDR2.\nSource Melbourne Genomics Health Alliance Perinatal Autopsy Flagship was removed from DDR2.\nSource ClinGen was added to DDR2.\nPhenotypes for gene: DDR2 were changed from Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665 to Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, MONDO:0010077\nPublications for gene DDR2 were changed from 19110212, 20223752, 24725993, 31406622, 33953858, 29884795, 35221872 to 19110212, 20223752, 24725993, 31406622, 33953858, 29884795, 35221872","entity_name":"DDR2","entity_type":"gene"},{"created":"2025-10-09T15:47:40.598724+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.435","user_name":"Chirag Patel","item_type":"entity","text":"Source Genomics England PanelApp was removed from DDR2.\nSource Genetic Health Queensland was removed from DDR2.\nSource ClinGen was added to DDR2.\nPhenotypes for gene: DDR2 were changed from Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR to Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, MONDO:0010077\nPublications for gene DDR2 were changed from 19110212, 20223752, 24725993, 31406622, 33953858, 29884795, 35221872 to 19110212, 20223752, 24725993, 31406622, 33953858, 29884795, 35221872","entity_name":"DDR2","entity_type":"gene"},{"created":"2025-10-09T15:45:38.572531+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3353","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from DDR2.\nSource Literature was added to DDR2.\nPhenotypes for gene: DDR2 were changed from Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665; Warburg-Cinotti syndrome, MIM# 618175 to Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, MONDO:0010077; Warburg-cinotti syndrome, MONDO:0032579\nPublications for gene DDR2 were changed from 30449416, 19110212, 20223752, 24725993, 31406622, 33953858, 29884795, 35221872 to 30449416, 19110212, 20223752, 24725993, 31406622, 33953858, 29884795, 35221872","entity_name":"DDR2","entity_type":"gene"},{"created":"2025-10-09T15:38:12.586902+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3352","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from DEPDC5.\nSource Literature was added to DEPDC5.\nPublications for gene DEPDC5 were changed from 31444548; 23542697; 23542701; 36067010; 32848577 to 31444548; 23542697; 23542701; 36067010; 32848577","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2025-10-09T15:30:44.209714+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3351","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from DHDDS.\nSource Literature was added to DHDDS.\nPublications for gene DHDDS were changed from 27343064, 21295283, 28130426, 29276052, 32483926, 36046393, 24078709, 28005406, 36046393, 29100083, 36628425, 34382076 to 27343064, 21295283, 28130426, 29276052, 32483926, 36046393, 24078709, 28005406, 36046393, 29100083, 36628425, 34382076","entity_name":"DHDDS","entity_type":"gene"},{"created":"2025-10-09T15:30:01.887527+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.346","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene DHDDS were changed from 29100083, 36628425, 34382076 to 29100083, 36628425, 34382076","entity_name":"DHDDS","entity_type":"gene"},{"created":"2025-10-09T15:27:50.315920+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.345","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene DHDDS were changed from 29100083, 36628425 to 29100083, 36628425","entity_name":"DHDDS","entity_type":"gene"},{"created":"2025-10-09T15:20:14.216572+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3350","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DHTKD1 as Green List (high evidence)","entity_name":"DHTKD1","entity_type":"gene"},{"created":"2025-10-09T15:20:14.204586+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3350","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dhtkd1 has been classified as Green List (High Evidence).","entity_name":"DHTKD1","entity_type":"gene"},{"created":"2025-10-09T15:19:53.578879+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3349","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from DHTKD1.\nSource Victorian Clinical Genetics Services was removed from DHTKD1.\nSource ClinGen was added to DHTKD1.\nPhenotypes for gene: DHTKD1 were changed from Alpha-aminoadipic and alpha-ketoadipic aciduria\tMIM#204750, AR; Charcot-Marie-Tooth disease, axonal, type 2Q, MIM#615025 to 2-aminoadipic 2-oxoadipic aciduria MONDO:0008774; Charcot-Marie-Tooth disease axonal type 2Q MONDO:0014012\nPublications for gene DHTKD1 were changed from 26141459, 25860818, 23141293, 23141294, 29661920, 28902413 to 26141459, 25860818, 23141293, 23141294, 29661920, 28902413\nRating Changed from Green List (high evidence) to Red List (low evidence)","entity_name":"DHTKD1","entity_type":"gene"},{"created":"2025-10-09T15:10:34.976378+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.54","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: DHTKD1 were changed from 2-aminoadipic 2-oxoadipic aciduria MIM#204750; Disorders of histidine, tryptophan or lysine metabolism to 2-aminoadipic 2-oxoadipic aciduria MONDO:0008774\nPublications for gene DHTKD1 were changed from 26141459, 25860818, 23141293 to 26141459, 25860818, 23141293","entity_name":"DHTKD1","entity_type":"gene"},{"created":"2025-10-09T14:56:49.512590+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3348","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: DHX37 were changed from 46,XY gonadal dysgenesis; testicular regression syndrome (TRS); Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731 to 46,XY sex reversal 11, MONDO:8000015; Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731\nPublications for gene DHX37 were changed from 31337883; 31745530; 31287541; 26539891; 31256877 to 31337883; 31745530; 31287541; 26539891; 31256877","entity_name":"DHX37","entity_type":"gene"},{"created":"2025-10-09T14:56:09.310165+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.21","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: DHX37 were changed from 46,XY gonadal dysgenesis; testicular regression syndrome (TRS) to 46,XY sex reversal 11, MONDO:8000015\nPublications for gene DHX37 were changed from 31337883; 31745530; 31287541 to 31337883; 31745530; 31287541","entity_name":"DHX37","entity_type":"gene"},{"created":"2025-10-09T14:50:11.022149+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.38","user_name":"Chirag Patel","item_type":"entity","text":"Source IBMDx Study was removed from DIAPH1.\nMode of inheritance for gene DIAPH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DIAPH1 were changed from Macrothrombocytopenia and sensorineural hearing loss to DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome, MONDO:0044635\nPublications for gene DIAPH1 were changed from 27707755, 27808407, 28003573, 28815995, 26912466 to 27707755, 27808407, 28003573, 28815995, 26912466","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2025-10-09T14:47:49.501547+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.238","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from DIAPH1.\nSource Australian Genomics Health Alliance Epilepsy Flagship was removed from DIAPH1.\nSource Literature was added to DIAPH1.\nPhenotypes for gene: DIAPH1 were changed from Seizures, cortical blindness, microcephaly syndrome, MIM# 616632 to Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714\nPublications for gene DIAPH1 were changed from 24781755, 26463574, 33662367, 36212620, 39076976, 39120629 to 24781755, 26463574, 33662367, 36212620, 39076976, 39120629","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2025-10-09T14:47:25.234803+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.134","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: DIAPH1 were changed from Seizures, cortical blindness, microcephaly syndrome, MIM# 616632; Combined Immune deficiency to Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714; Combined Immune deficiency\nPublications for gene DIAPH1 were changed from 24781755, 26463574, 33662367, 36212620, 39076976, 39120629 to 24781755, 26463574, 33662367, 36212620, 39076976, 39120629","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2025-10-09T14:47:01.296595+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.344","user_name":"Chirag Patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from DIAPH1.\nSource Literature was added to DIAPH1.\nPhenotypes for gene: DIAPH1 were changed from progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0014714 to Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714\nPublications for gene DIAPH1 were changed from 24781755, 26463574, 33662367, 36212620, 39076976, 39120629 to 24781755, 26463574, 33662367, 36212620, 39076976, 39120629","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2025-10-09T14:46:31.432106+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.434","user_name":"Chirag Patel","item_type":"entity","text":"Source Genomics England PanelApp was removed from DIAPH1.\nSource Expert Review was removed from DIAPH1.\nSource Literature was added to DIAPH1.\nPhenotypes for gene: DIAPH1 were changed from Seizures, cortical blindness, microcephaly syndrome, MIM#616632 to Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714\nPublications for gene DIAPH1 were changed from 24781755, 26463574, 33662367, 36212620, 39076976, 39120629 to 24781755, 26463574, 33662367, 36212620, 39076976, 39120629","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2025-10-09T14:44:23.126739+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.345","user_name":"Chirag Patel","item_type":"entity","text":"Source Expert Review was removed from DIAPH1.\nSource Literature was added to DIAPH1.\nPhenotypes for gene: DIAPH1 were changed from Seizures, cortical blindness, microcephaly syndrome 616632 to Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714\nPublications for gene DIAPH1 were changed from 24781755, 26463574, 33662367, 36212620, 39076976, 39120629 to 24781755, 26463574, 33662367, 36212620, 39076976, 39120629","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2025-10-09T14:43:36.841978+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3347","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene DIAPH1 were changed from 27808407; 28003573; 28815995; 26912466; 24781755; 26463574; 33662367; 36212620; 39076976; 39120629 to 27808407; 28003573; 28815995; 26912466; 24781755; 26463574; 33662367; 36212620; 39076976; 39120629","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2025-10-09T14:42:51.011458+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.36","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: Established gene-disease association. Reported in unrelated individuals with either azoospermia or primary ovarian insufficiency\r\n\r\nSpermatogenic failure:\r\n\r\nPMID: 32719396\r\nHomozygous males presenting with non-obstructive azoospermia\r\nc.201+1G>T - absent from gnomAD v4.1\r\nc.231_232del;p.(Cys78Phefs*21) - FAF 0.04% \r\n\r\nPMID: 33713115 - 2 unrelated Chinese males with non-obstructive azoospermia from consanguineous families presented with homozygous c.231_232del;p.(Cys78Phefs*21)\r\nCRISPR/Cas9 mouse model showed that in the mutant mice had smaller testes compared to their control littermates and no sperm in histological analysis recapitulating spermatogenic arrest.\r\n\r\nPrimary ovarian insufficiency (POI):\r\n\r\nPMID: 40991243\r\nFour french individuals with a diagnosis of premature ovarian insufficiency (POI) identified with variants in ZSWIM7\r\n\r\nPatient 1: Homozygous deletion c.231_232del\r\nPatient 2: Compound het c.231_232del;c.22del (p.Val8LeufsTer6)\r\nPatient 3: Compound het c.231_232del; c.151C>T (NFE AF 0.002%)\r\nPaitent 4: Homozygous c.176C>T p.(Arg51Ter) \r\n\r\nPMID: 40991243\r\nTwo sisters from a consanguineous pedigree presented in adolescence with absent puberty and primary amenorrhea\r\nBoth sisters homozygous for c.173G>C and unaffected mother heterozygous for the variant \nSources: Literature; to: Established gene-disease association. Biallelic variants reported in unrelated individuals with either azoospermia or primary ovarian insufficiency\r\n\r\nSpermatogenic failure:\r\n\r\nPMID: 32719396\r\nHomozygous males presenting with non-obstructive azoospermia\r\nc.201+1G>T - absent from gnomAD v4.1\r\nc.231_232del;p.(Cys78Phefs*21) - FAF 0.04% \r\n\r\nPMID: 33713115 - 2 unrelated Chinese males with non-obstructive azoospermia from consanguineous families presented with homozygous c.231_232del;p.(Cys78Phefs*21)\r\nCRISPR/Cas9 mouse model showed that in the mutant mice had smaller testes compared to their control littermates and no sperm in histological analysis recapitulating spermatogenic arrest.\r\n\r\nPrimary ovarian insufficiency (POI):\r\n\r\nPMID: 40991243\r\nFour french individuals with a diagnosis of premature ovarian insufficiency (POI) identified with variants in ZSWIM7\r\n\r\nPatient 1: Homozygous deletion c.231_232del\r\nPatient 2: Compound het c.231_232del;c.22del (p.Val8LeufsTer6)\r\nPatient 3: Compound het c.231_232del; c.151C>T (NFE AF 0.002%)\r\nPaitent 4: Homozygous c.176C>T p.(Arg51Ter) \r\n\r\nPMID: 40991243\r\nTwo sisters from a consanguineous pedigree presented in adolescence with absent puberty and primary amenorrhea\r\nBoth sisters homozygous for c.173G>C and unaffected mother heterozygous for the variant \r\nSources: Literature","entity_name":"ZSWIM7","entity_type":"gene"},{"created":"2025-10-09T14:42:13.583547+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3346","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: Established gene-disease association. Reported in unrelated individuals with either azoospermia or primary ovarian insufficiency\r\n\r\nSpermatogenic failure:\r\n\r\nPMID: 32719396\r\nHomozygous males presenting with non-obstructive azoospermia\r\nc.201+1G>T - absent from gnomAD v4.1\r\nc.231_232del;p.(Cys78Phefs*21) - FAF 0.04% \r\n\r\nPMID: 33713115 - 2 unrelated Chinese males with non-obstructive azoospermia from consanguineous families presented with homozygous c.231_232del;p.(Cys78Phefs*21)\r\nCRISPR/Cas9 mouse model showed that in the mutant mice had smaller testes compared to their control littermates and no sperm in histological analysis recapitulating spermatogenic arrest.\r\n\r\nPrimary ovarian insufficiency (POI):\r\n\r\nPMID: 40991243\r\nFour french individuals with a diagnosis of premature ovarian insufficiency (POI) identified with variants in ZSWIM7\r\n\r\nPatient 1: Homozygous deletion c.231_232del\r\nPatient 2: Compound het c.231_232del;c.22del (p.Val8LeufsTer6)\r\nPatient 3: Compound het c.231_232del; c.151C>T (NFE AF 0.002%)\r\nPaitent 4: Homozygous c.176C>T p.(Arg51Ter) \r\n\r\nPMID: 40991243\r\nTwo sisters from a consanguineous pedigree presented in adolescence with absent puberty and primary amenorrhea\r\nBoth sisters homozygous for c.173G>C and unaffected mother heterozygous for the variant \nSources: Literature; to: Established gene-disease association. Biallelic variants reported in unrelated individuals with either azoospermia or primary ovarian insufficiency\r\n\r\nSpermatogenic failure:\r\n\r\nPMID: 32719396\r\nHomozygous males presenting with non-obstructive azoospermia\r\nc.201+1G>T - absent from gnomAD v4.1\r\nc.231_232del;p.(Cys78Phefs*21) - FAF 0.04% \r\n\r\nPMID: 33713115 - 2 unrelated Chinese males with non-obstructive azoospermia from consanguineous families presented with homozygous c.231_232del;p.(Cys78Phefs*21)\r\nCRISPR/Cas9 mouse model showed that in the mutant mice had smaller testes compared to their control littermates and no sperm in histological analysis recapitulating spermatogenic arrest.\r\n\r\nPrimary ovarian insufficiency (POI):\r\n\r\nPMID: 40991243\r\nFour french individuals with a diagnosis of premature ovarian insufficiency (POI) identified with variants in ZSWIM7\r\n\r\nPatient 1: Homozygous deletion c.231_232del\r\nPatient 2: Compound het c.231_232del;c.22del (p.Val8LeufsTer6)\r\nPatient 3: Compound het c.231_232del; c.151C>T (NFE AF 0.002%)\r\nPaitent 4: Homozygous c.176C>T p.(Arg51Ter) \r\n\r\nPMID: 40991243\r\nTwo sisters from a consanguineous pedigree presented in adolescence with absent puberty and primary amenorrhea\r\nBoth sisters homozygous for c.173G>C and unaffected mother heterozygous for the variant \r\nSources: Literature","entity_name":"ZSWIM7","entity_type":"gene"},{"created":"2025-10-09T14:41:43.215595+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3346","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: ZSWIM7 was added\ngene: ZSWIM7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZSWIM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZSWIM7 were set to 32719396, 33713115, 40991243, 40991243\nPhenotypes for gene: ZSWIM7 were set to Spermatogenic failure 71 MONDO:0030787; Ovarian dysgenesis 10  MONDO:0030736\nReview for gene: ZSWIM7 was set to GREEN\nAdded comment: Established gene-disease association. Reported in unrelated individuals with either azoospermia or primary ovarian insufficiency\r\n\r\nSpermatogenic failure:\r\n\r\nPMID: 32719396\r\nHomozygous males presenting with non-obstructive azoospermia\r\nc.201+1G>T - absent from gnomAD v4.1\r\nc.231_232del;p.(Cys78Phefs*21) - FAF 0.04% \r\n\r\nPMID: 33713115 - 2 unrelated Chinese males with non-obstructive azoospermia from consanguineous families presented with homozygous c.231_232del;p.(Cys78Phefs*21)\r\nCRISPR/Cas9 mouse model showed that in the mutant mice had smaller testes compared to their control littermates and no sperm in histological analysis recapitulating spermatogenic arrest.\r\n\r\nPrimary ovarian insufficiency (POI):\r\n\r\nPMID: 40991243\r\nFour french individuals with a diagnosis of premature ovarian insufficiency (POI) identified with variants in ZSWIM7\r\n\r\nPatient 1: Homozygous deletion c.231_232del\r\nPatient 2: Compound het c.231_232del;c.22del (p.Val8LeufsTer6)\r\nPatient 3: Compound het c.231_232del; c.151C>T (NFE AF 0.002%)\r\nPaitent 4: Homozygous c.176C>T p.(Arg51Ter) \r\n\r\nPMID: 40991243\r\nTwo sisters from a consanguineous pedigree presented in adolescence with absent puberty and primary amenorrhea\r\nBoth sisters homozygous for c.173G>C and unaffected mother heterozygous for the variant \nSources: Literature","entity_name":"ZSWIM7","entity_type":"gene"},{"created":"2025-10-09T14:41:10.423729+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3346","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene DIAPH1 were changed from 27808407; 28003573; 28815995; 26912466; 24781755; 26463574 to 27808407; 28003573; 28815995; 26912466; 24781755; 26463574","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2025-10-09T14:40:26.192795+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3345","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene DIAPH1 were changed from 27808407; 28003573; 28815995; 26463574; 26912466; 24781755 to 27808407; 28003573; 28815995; 26463574; 26912466; 24781755","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2025-10-09T14:40:07.771181+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.231","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene DIAPH1 were changed from 27707755; 27808407; 28003573; 28815995; 26912466 to 27707755; 27808407; 28003573; 28815995; 26912466","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2025-10-09T14:39:17.035549+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.60","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: DIAPH1 were changed from Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM#\t124900 to DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome, MONDO:0044635\nPublications for gene DIAPH1 were changed from 26912466; 27808407; 27707755; 28003573; 28815995 to 26912466; 27808407; 27707755; 28003573; 28815995","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2025-10-09T14:38:31.173601+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.36","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: ZSWIM7 was added\ngene: ZSWIM7 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: ZSWIM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZSWIM7 were set to 32719396, 33713115, 40991243, 40991243\nPhenotypes for gene: ZSWIM7 were set to Spermatogenic failure 71 MONDO:0030787; Ovarian dysgenesis 10  MONDO:0030736\nReview for gene: ZSWIM7 was set to GREEN\nAdded comment: Established gene-disease association. Reported in unrelated individuals with either azoospermia or primary ovarian insufficiency\r\n\r\nSpermatogenic failure:\r\n\r\nPMID: 32719396\r\nHomozygous males presenting with non-obstructive azoospermia\r\nc.201+1G>T - absent from gnomAD v4.1\r\nc.231_232del;p.(Cys78Phefs*21) - FAF 0.04% \r\n\r\nPMID: 33713115 - 2 unrelated Chinese males with non-obstructive azoospermia from consanguineous families presented with homozygous c.231_232del;p.(Cys78Phefs*21)\r\nCRISPR/Cas9 mouse model showed that in the mutant mice had smaller testes compared to their control littermates and no sperm in histological analysis recapitulating spermatogenic arrest.\r\n\r\nPrimary ovarian insufficiency (POI):\r\n\r\nPMID: 40991243\r\nFour french individuals with a diagnosis of premature ovarian insufficiency (POI) identified with variants in ZSWIM7\r\n\r\nPatient 1: Homozygous deletion c.231_232del\r\nPatient 2: Compound het c.231_232del;c.22del (p.Val8LeufsTer6)\r\nPatient 3: Compound het c.231_232del; c.151C>T (NFE AF 0.002%)\r\nPaitent 4: Homozygous c.176C>T p.(Arg51Ter) \r\n\r\nPMID: 40991243\r\nTwo sisters from a consanguineous pedigree presented in adolescence with absent puberty and primary amenorrhea\r\nBoth sisters homozygous for c.173G>C and unaffected mother heterozygous for the variant \nSources: Literature","entity_name":"ZSWIM7","entity_type":"gene"},{"created":"2025-10-09T14:37:06.269524+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.230","user_name":"Chirag Patel","item_type":"entity","text":"commented on gene: DIAPH1","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2025-10-09T14:36:29.838262+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.230","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene DIAPH1 were changed from 27707755; 27808407; 28003573; 28815995 to 27707755; 27808407; 28003573; 28815995","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2025-10-09T14:34:28.980422+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3344","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene DIAPH1 were changed from 27808407; 28003573; 28815995; 26463574; 24781755 to 27808407; 28003573; 28815995; 26463574; 24781755","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2025-10-09T14:33:02.971840+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3343","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: DIAPH1 were changed from DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome, MONDO:0044635 to DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome, MONDO:0044635; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714\nPublications for gene DIAPH1 were changed from 24781755; 24781755; 27808407; 28003573; 28815995; 26463574 to 24781755; 24781755; 27808407; 28003573; 28815995; 26463574","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2025-10-09T14:30:29.469255+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.229","user_name":"Chirag Patel","item_type":"entity","text":"Source Melbourne Genomics Health Alliance Deafness Flagship was removed from DIAPH1.\nSource Victorian Clinical Genetics Services was removed from DIAPH1.\nSource Literature was added to DIAPH1.\nPhenotypes for gene: DIAPH1 were changed from Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900 to DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome, MONDO:0044635","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2025-10-09T14:30:06.995067+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3342","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from DIAPH1.\nSource Literature was added to DIAPH1.\nPhenotypes for gene: DIAPH1 were changed from Deafness; thrombocytopenia 124900; Seizures; cortical blindness; microcephaly 616632 to DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome, MONDO:0044635","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2025-10-09T14:28:36.561028+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3341","user_name":"Sarah Milton","item_type":"entity","text":"reviewed gene: PDIA6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40974269, 35856135, 33495992; Phenotypes: Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes and polycystic kidney disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDIA6","entity_type":"gene"},{"created":"2025-10-09T14:26:59.125933+11:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"1.12","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: DLX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9467018, 15666299; Phenotypes: Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, MONDO:0007093; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DLX3","entity_type":"gene"},{"created":"2025-10-09T14:26:38.417124+11:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"1.12","user_name":"Chirag Patel","item_type":"entity","text":"Source Genomics England PanelApp was removed from DLX3.\nSource Literature was added to DLX3.\nPhenotypes for gene: DLX3 were changed from Amelogenesis imperfecta, type IV, MIM# 104510; Trichodontoosseous syndrome, MIM# 190320 to Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, MONDO:0007093\nPublications for gene DLX3 were changed from 9467018, 15666299 to 9467018, 15666299","entity_name":"DLX3","entity_type":"gene"},{"created":"2025-10-09T14:26:18.772628+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.336","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: DLX3 were changed from Trichodontoosseous syndrome 190320 to Tricho-dento-osseous syndrome, MONDO:0008592","entity_name":"DLX3","entity_type":"gene"},{"created":"2025-10-09T14:25:28.240863+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3341","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: DLX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15666299, 9467018, 18203197, 9783705, 10466415, 9467018; Phenotypes: Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, MONDO:0007093, Tricho-dento-osseous syndrome, MONDO:0008592; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DLX3","entity_type":"gene"},{"created":"2025-10-09T14:24:49.808198+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3341","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: DLX3 were changed from Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, MONDO:0007093 to Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, MONDO:0007093; Tricho-dento-osseous syndrome, MONDO:0008592\nPublications for gene DLX3 were changed from 15666299, 9467018, 18203197, 9783705, 10466415, 9467018 to 15666299, 9467018, 18203197, 9783705, 10466415, 9467018","entity_name":"DLX3","entity_type":"gene"},{"created":"2025-10-09T14:23:09.941065+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.335","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene DLX3 were changed from 9467018, 18203197, 9783705, 10466415 to 9467018, 18203197, 9783705, 10466415","entity_name":"DLX3","entity_type":"gene"},{"created":"2025-10-09T14:22:22.148747+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3340","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DLX3 as Green List (high evidence)","entity_name":"DLX3","entity_type":"gene"},{"created":"2025-10-09T14:22:22.138397+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3340","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dlx3 has been classified as Green List (High Evidence).","entity_name":"DLX3","entity_type":"gene"},{"created":"2025-10-09T14:21:21.833709+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3339","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from DLX3.\nSource Literature was added to DLX3.\nPhenotypes for gene: DLX3 were changed from Amelogenesis imperfecta, type IV, MIM# 104510; Trichodontoosseous syndrome, MIM# 190320 to Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, MONDO:0007093\nPublications for gene DLX3 were changed from 9467018; 15666299 to 9467018; 15666299\nRating Changed from Green List (high evidence) to Red List (low evidence)","entity_name":"DLX3","entity_type":"gene"},{"created":"2025-10-09T14:19:23.084691+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.334","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: DLX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9467018, 18203197, 9783705, 10466415; Phenotypes: Tricho-dento-osseous syndrome MONDO:0008592; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DLX3","entity_type":"gene"},{"created":"2025-10-09T14:16:21.136642+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.334","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: DLX3 were changed from Trichodontoosseous syndrome 190320; Amelogenesis imperfecta, type IV 104510 to Trichodontoosseous syndrome 190320","entity_name":"DLX3","entity_type":"gene"},{"created":"2025-10-09T14:12:47.096605+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.77","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: DLX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22121204, 24496061, 25196357, 20534536, 12112878; Phenotypes: Split-hand/foot malformation 1 with sensorineural hearing loss MIM#220600, Split-hand/foot malformation 1 MIM#183600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DLX5","entity_type":"gene"},{"created":"2025-10-09T14:12:19.407181+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.333","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: DLX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22121204, 24496061, 25196357, 20534536, 12112878; Phenotypes: Split-hand/foot malformation 1 with sensorineural hearing loss MIM#220600, Split-hand/foot malformation 1 MIM#183600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DLX5","entity_type":"gene"},{"created":"2025-10-09T14:02:17.684805+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3338","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF31 as ready","entity_name":"RNF31","entity_type":"gene"},{"created":"2025-10-09T14:02:17.675834+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3338","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Alias: HOIP","entity_name":"RNF31","entity_type":"gene"},{"created":"2025-10-09T14:02:17.651970+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3338","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf31 has been classified as Green List (High Evidence).","entity_name":"RNF31","entity_type":"gene"},{"created":"2025-10-09T13:57:51.404929+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.343","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: LEO1 as Green List (high evidence)","entity_name":"LEO1","entity_type":"gene"},{"created":"2025-10-09T13:57:51.395179+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.343","user_name":"Chirag Patel","item_type":"entity","text":"Gene: leo1 has been classified as Green List (High Evidence).","entity_name":"LEO1","entity_type":"gene"},{"created":"2025-10-09T13:57:48.917717+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3338","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: LEO1 as Green List (high evidence)","entity_name":"LEO1","entity_type":"gene"},{"created":"2025-10-09T13:57:48.909369+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3338","user_name":"Chirag Patel","item_type":"entity","text":"Gene: leo1 has been classified as Green List (High Evidence).","entity_name":"LEO1","entity_type":"gene"},{"created":"2025-10-09T13:57:13.069802+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.342","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: LEO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40993282, 33004838, 31785789, 40671880, 29674594; Phenotypes: Neurodevelopmental disorder MONDO:0700092, LEO-1 related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LEO1","entity_type":"gene"},{"created":"2025-10-09T13:57:10.726380+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3337","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: LEO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40993282, 33004838, 31785789, 40671880, 29674594; Phenotypes: Neurodevelopmental disorder MONDO:0700092, LEO-1 related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LEO1","entity_type":"gene"},{"created":"2025-10-09T13:43:43.091342+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3337","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MDC1 as ready","entity_name":"MDC1","entity_type":"gene"},{"created":"2025-10-09T13:43:43.085078+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3337","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mdc1 has been classified as Amber List (Moderate Evidence).","entity_name":"MDC1","entity_type":"gene"},{"created":"2025-10-09T13:43:35.480923+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3337","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MDC1 were set to PMID: 40954969, 34089056","entity_name":"MDC1","entity_type":"gene"},{"created":"2025-10-09T13:43:19.672660+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3336","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MDC1 as Amber List (moderate evidence)","entity_name":"MDC1","entity_type":"gene"},{"created":"2025-10-09T13:43:19.655093+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3336","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mdc1 has been classified as Amber List (Moderate Evidence).","entity_name":"MDC1","entity_type":"gene"},{"created":"2025-10-09T13:42:54.034925+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MDC1 as ready","entity_name":"MDC1","entity_type":"gene"},{"created":"2025-10-09T13:42:54.024608+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mdc1 has been classified as Amber List (Moderate Evidence).","entity_name":"MDC1","entity_type":"gene"},{"created":"2025-10-09T13:42:46.573408+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MDC1 as Amber List (moderate evidence)","entity_name":"MDC1","entity_type":"gene"},{"created":"2025-10-09T13:42:46.566756+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mdc1 has been classified as Amber List (Moderate Evidence).","entity_name":"MDC1","entity_type":"gene"}]}