{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=423","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=421","results":[{"created":"2024-07-18T15:38:53.649454+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tat has been classified as Green List (High Evidence).","entity_name":"TAT","entity_type":"gene"},{"created":"2024-07-18T15:38:30.443012+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TDO2 as ready","entity_name":"TDO2","entity_type":"gene"},{"created":"2024-07-18T15:38:30.414796+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tdo2 has been classified as Red List (Low Evidence).","entity_name":"TDO2","entity_type":"gene"},{"created":"2024-07-18T15:38:26.208252+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TDO2 as Red List (low evidence)","entity_name":"TDO2","entity_type":"gene"},{"created":"2024-07-18T15:38:26.194450+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tdo2 has been classified as Red List (Low Evidence).","entity_name":"TDO2","entity_type":"gene"},{"created":"2024-07-18T15:38:02.906229+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TH as ready","entity_name":"TH","entity_type":"gene"},{"created":"2024-07-18T15:38:02.875311+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: th has been classified as Green List (High Evidence).","entity_name":"TH","entity_type":"gene"},{"created":"2024-07-18T15:37:56.445658+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TH as Green List (high evidence)","entity_name":"TH","entity_type":"gene"},{"created":"2024-07-18T15:37:56.430987+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: th has been classified as Green List (High Evidence).","entity_name":"TH","entity_type":"gene"},{"created":"2024-07-18T15:37:03.122547+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.98","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TYR as ready","entity_name":"TYR","entity_type":"gene"},{"created":"2024-07-18T15:37:03.101907+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.98","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tyr has been classified as Green List (High Evidence).","entity_name":"TYR","entity_type":"gene"},{"created":"2024-07-18T15:36:30.430151+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.98","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TYR as Green List (high evidence)","entity_name":"TYR","entity_type":"gene"},{"created":"2024-07-18T15:36:30.411424+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.98","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tyr has been classified as Green List (High Evidence).","entity_name":"TYR","entity_type":"gene"},{"created":"2024-07-18T15:36:29.187797+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.97","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: GRHPR was added\ngene: GRHPR was added to Aminoacidopathy. Sources: Other\nMode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRHPR were set to 24116921\nPhenotypes for gene: GRHPR were set to primary hyperoxaluria type 2 MONDO:0009824; Disorders of glyoxylate and oxalate metabolism\nReview for gene: GRHPR was set to GREEN\nAdded comment: Well established gene - disease association with reported individuals having abnormal biochemical function. \nSources: Other","entity_name":"GRHPR","entity_type":"gene"},{"created":"2024-07-18T15:35:59.885607+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.328","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZNF483 as ready","entity_name":"ZNF483","entity_type":"gene"},{"created":"2024-07-18T15:35:59.858876+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.328","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf483 has been classified as Amber List (Moderate Evidence).","entity_name":"ZNF483","entity_type":"gene"},{"created":"2024-07-18T15:35:42.768572+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.328","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZNF483 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZNF483","entity_type":"gene"},{"created":"2024-07-18T15:35:14.978424+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.327","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZNF483 as Amber List (moderate evidence)","entity_name":"ZNF483","entity_type":"gene"},{"created":"2024-07-18T15:35:14.954764+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.327","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf483 has been classified as Amber List (Moderate Evidence).","entity_name":"ZNF483","entity_type":"gene"},{"created":"2024-07-18T15:34:46.347194+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1888","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZNF483 as ready","entity_name":"ZNF483","entity_type":"gene"},{"created":"2024-07-18T15:34:46.334404+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1888","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf483 has been classified as Amber List (Moderate Evidence).","entity_name":"ZNF483","entity_type":"gene"},{"created":"2024-07-18T15:34:38.444234+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1888","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZNF483 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZNF483","entity_type":"gene"},{"created":"2024-07-18T15:34:06.477693+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1887","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZNF483 as Amber List (moderate evidence)","entity_name":"ZNF483","entity_type":"gene"},{"created":"2024-07-18T15:34:06.457228+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1887","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf483 has been classified as Amber List (Moderate Evidence).","entity_name":"ZNF483","entity_type":"gene"},{"created":"2024-07-18T15:33:26.897252+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UROC1 as ready","entity_name":"UROC1","entity_type":"gene"},{"created":"2024-07-18T15:33:26.864150+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: uroc1 has been classified as Amber List (Moderate Evidence).","entity_name":"UROC1","entity_type":"gene"},{"created":"2024-07-18T15:32:43.383502+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UROC1 as Amber List (moderate evidence)","entity_name":"UROC1","entity_type":"gene"},{"created":"2024-07-18T15:32:43.370481+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: uroc1 has been classified as Amber List (Moderate Evidence).","entity_name":"UROC1","entity_type":"gene"},{"created":"2024-07-18T15:31:48.204517+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6063","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CRNKL1 as ready","entity_name":"CRNKL1","entity_type":"gene"},{"created":"2024-07-18T15:31:48.179496+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6063","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: crnkl1 has been classified as Green List (High Evidence).","entity_name":"CRNKL1","entity_type":"gene"},{"created":"2024-07-18T15:31:30.668445+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6063","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CRNKL1 as Green List (high evidence)","entity_name":"CRNKL1","entity_type":"gene"},{"created":"2024-07-18T15:31:30.653565+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6063","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: crnkl1 has been classified as Green List (High Evidence).","entity_name":"CRNKL1","entity_type":"gene"},{"created":"2024-07-18T15:30:48.554908+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.269","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CRNKL1 as ready","entity_name":"CRNKL1","entity_type":"gene"},{"created":"2024-07-18T15:30:48.535452+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.269","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: crnkl1 has been classified as Green List (High Evidence).","entity_name":"CRNKL1","entity_type":"gene"},{"created":"2024-07-18T15:30:22.776587+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.269","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CRNKL1 as Green List (high evidence)","entity_name":"CRNKL1","entity_type":"gene"},{"created":"2024-07-18T15:30:22.761242+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.269","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: crnkl1 has been classified as Green List (High Evidence).","entity_name":"CRNKL1","entity_type":"gene"},{"created":"2024-07-18T15:29:43.930137+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.65","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CRNKL1 as ready","entity_name":"CRNKL1","entity_type":"gene"},{"created":"2024-07-18T15:29:43.914103+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: crnkl1 has been classified as Green List (High Evidence).","entity_name":"CRNKL1","entity_type":"gene"},{"created":"2024-07-18T15:29:37.820806+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.65","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CRNKL1 as Green List (high evidence)","entity_name":"CRNKL1","entity_type":"gene"},{"created":"2024-07-18T15:29:37.800842+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: crnkl1 has been classified as Green List (High Evidence).","entity_name":"CRNKL1","entity_type":"gene"},{"created":"2024-07-18T15:28:41.554729+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HOGA1 as ready","entity_name":"HOGA1","entity_type":"gene"},{"created":"2024-07-18T15:28:41.534602+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hoga1 has been classified as Green List (High Evidence).","entity_name":"HOGA1","entity_type":"gene"},{"created":"2024-07-18T15:28:36.039258+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HOGA1 as Green List (high evidence)","entity_name":"HOGA1","entity_type":"gene"},{"created":"2024-07-18T15:28:35.990992+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hoga1 has been classified as Green List (High Evidence).","entity_name":"HOGA1","entity_type":"gene"},{"created":"2024-07-18T12:50:39.282377+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.95","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: HOGA1 was added\ngene: HOGA1 was added to Aminoacidopathy. Sources: Other\nMode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HOGA1 were set to 26401545; 21896830; 20797690\nPhenotypes for gene: HOGA1 were set to primary hyperoxaluria type 3 MONDO:0013327; Disorders of ornithine, proline and hydroxyproline metabolism\nReview for gene: HOGA1 was set to GREEN\nAdded comment: Established gene-disease association with >4 unrelated individuals having evidence of abnormal biochemical function. \nSources: Other","entity_name":"HOGA1","entity_type":"gene"},{"created":"2024-07-18T12:34:45.364048+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.64","user_name":"Mark Cleghorn","item_type":"entity","text":"gene: CRNKL1 was added\ngene: CRNKL1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Other\nMode of inheritance for gene: CRNKL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CRNKL1 were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: CRNKL1 was set to GREEN\nAdded comment: Unpublished, presented at ESHG June 2024 - Louise Bicknell, University of Otago NZ\r\n8 unrelated families via gene matcher with rare, de novo, missense variants in CRNKL1\r\nsevere microcephaly (all, -8  to -11 SD)\r\nID/epilepsy\r\npontocerebellar hypoplasia (6/8)\r\nsimplified gyration (8/8)\r\n7 variants are missense at p.Arg267 residue\r\n1 variant missense at p.Arg301\r\nRNA-seq on patient fibroblasts - no alteration in gene expression\r\nZebrafish homolog of Arg267 and Arg301 - mimics observed phenotype (reduced brain development), increased in embryo apoptosis\r\nRNQ seq on affected zebrafish embryos - transcriptome strongly disrupted\r\nSplicing analysis in progress\r\n\r\nCRKNL1 supports U6 structure in spliceosome \nSources: Other","entity_name":"CRNKL1","entity_type":"gene"},{"created":"2024-07-18T12:32:43.746778+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.268","user_name":"Mark Cleghorn","item_type":"entity","text":"gene: CRNKL1 was added\ngene: CRNKL1 was added to Microcephaly. Sources: Other\nMode of inheritance for gene: CRNKL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CRNKL1 were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: CRNKL1 was set to GREEN\nAdded comment: Unpublished, presented at ESHG June 2024 - Louise Bicknell, University of Otago NZ\r\n8 unrelated families via gene matcher with rare, de novo, missense variants in CRNKL1\r\nsevere microcephaly (all, -8  to -11 SD)\r\nID/epilepsy\r\npontocerebellar hypoplasia (6/8)\r\nsimplified gyration (8/8)\r\n7 variants are missense at p.Arg267 residue\r\n1 variant missense at p.Arg301\r\nRNA-seq on patient fibroblasts - no alteration in gene expression\r\nZebrafish homolog of Arg267 and Arg301 - mimics observed phenotype (reduced brain development), increased in embryo apoptosis\r\nRNQ seq on affected zebrafish embryos - transcriptome strongly disrupted\r\nSplicing analysis in progress\r\n\r\nCRKNL1 supports U6 structure in spliceosome \nSources: Other","entity_name":"CRNKL1","entity_type":"gene"},{"created":"2024-07-18T12:29:13.081944+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6062","user_name":"Mark Cleghorn","item_type":"entity","text":"gene: CRNKL1 was added\ngene: CRNKL1 was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: CRNKL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CRNKL1 were set to complex neurodevelopmental disorder MONDO:0100038\nPenetrance for gene: CRNKL1 were set to Complete\nReview for gene: CRNKL1 was set to GREEN\nAdded comment: Unpublished, presented at ESHG June 2024 - Louise Bicknell, University of Otago NZ\r\n8 unrelated families via gene matcher with rare, de novo, missense variants in CRNKL1\r\nsevere microcephaly (all, -8  to -11 SD)\r\nID/epilepsy\r\npontocerebellar hypoplasia (6/8)\r\nsimplified gyration (8/8)\r\n7 variants are missense at p.Arg267 residue\r\n1 variant missense at p.Arg301\r\nRNA-seq on patient fibroblasts - no alteration in gene expression\r\nZebrafish homolog of Arg267 and Arg301 - mimics observed phenotype (reduced brain development), increased in embryo apoptosis\r\nRNQ seq on affected zebrafish embryos - transcriptome strongly disrupted\r\nSplicing analysis in progress\r\n\r\nCRKNL1 supports U6 structure in spliceosome \nSources: Other","entity_name":"CRNKL1","entity_type":"gene"},{"created":"2024-07-18T11:52:05.380048+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.95","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: UROC1 was added\ngene: UROC1 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UROC1 were set to 19304569; 30619714; 32439973; 27391121\nPhenotypes for gene: UROC1 were set to urocanic aciduria MONDO:0010167\nReview for gene: UROC1 was set to AMBER\nAdded comment: The relationship between the phenotypes and evidence of biochemical abnormality remains unclear for this gene-disease association. \r\n\r\nVariants have been reported in 4 unrelated individuals however one individual was reported to be phenotypically asymptomatic except for evidence of urocanase deficiency in a biochemical assay (PMID: 30619714).\r\n\r\nClassified Moderate by Aminoacidopathy GCEP on 26/04/2024 - https://search.clinicalgenome.org/CCID:006504 \nSources: ClinGen","entity_name":"UROC1","entity_type":"gene"},{"created":"2024-07-18T11:48:52.369772+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1886","user_name":"Mark Cleghorn","item_type":"entity","text":"gene: ZNF483 was added\ngene: ZNF483 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZNF483 was set to Unknown\nPublications for gene: ZNF483 were set to 38951643\nPhenotypes for gene: ZNF483 were set to primary ovarian failure MONDO:0005387\nReview for gene: ZNF483 was set to AMBER\nAdded comment: PMID: 38951643, ESHG 2024 presentation\r\nLarge cohort assessing PRS for age of menarche\r\nNoted rare PTVs in ZNF483 assoc w earlier menarche\r\nNo individual case information in this study \nSources: Literature","entity_name":"ZNF483","entity_type":"gene"},{"created":"2024-07-18T11:46:59.335551+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.326","user_name":"Mark Cleghorn","item_type":"entity","text":"gene: ZNF483 was added\ngene: ZNF483 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: ZNF483 was set to Unknown\nPublications for gene: ZNF483 were set to 38951643\nPhenotypes for gene: ZNF483 were set to primary ovarian failure MONDO:0005387\nPenetrance for gene: ZNF483 were set to unknown\nReview for gene: ZNF483 was set to AMBER\nAdded comment: PMID: 38951643, ESHG 2024 presentation\r\nLarge cohort assessing PRS for age of menarche\r\nNoted rare PTVs in ZNF483 assoc w earlier menarche\r\nNo individual case information in this study \nSources: Literature","entity_name":"ZNF483","entity_type":"gene"},{"created":"2024-07-18T11:46:20.182966+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.95","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: TYR was added\ngene: TYR was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TYR were set to 2511845; 32411182; 31199599; 29052256\nPhenotypes for gene: TYR were set to oculocutaneous albinism type 1 MONDO:0018135\nReview for gene: TYR was set to GREEN\nAdded comment: TYR encodes tyrosinase which vital in melanin synthesis. Reported individuals have an error in tyrosinase metabolism thus affecting melanin synthesis. >5 probands have been reported with errors in tyrosinase metabolism. \r\n\r\nClassified Definitive by Aminoacidopathy GCEP on 28/08/2020 - https://search.clinicalgenome.org/CCID:006490 \nSources: ClinGen","entity_name":"TYR","entity_type":"gene"},{"created":"2024-07-18T11:38:31.323885+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.95","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: TH was added\ngene: TH was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TH were set to 30383639; 29225908; 22264700; 12891655\nPhenotypes for gene: TH were set to tyrosine hydroxylase deficiency MONDO:0100064\nReview for gene: TH was set to GREEN\nAdded comment: >10 unrelated probands reported with an inborn error in tyrosine metabolism.\r\n\r\nClassified Definitive by Aminoacidopathy GCEP on 22/03/2019 - https://search.clinicalgenome.org/CCID:006363 \nSources: ClinGen","entity_name":"TH","entity_type":"gene"},{"created":"2024-07-18T11:32:31.829817+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.95","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: TDO2 was added\ngene: TDO2 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: TDO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TDO2 were set to 28285122\nPhenotypes for gene: TDO2 were set to familial hypertryptophanemia MONDO:0010907\nReview for gene: TDO2 was set to RED\nAdded comment: Reported in one individual to date however there is evidence that this is a benign biochemical variant with no clinical significance. \r\n\r\nClassified Limitied by Aminoacidopathy GCEP on 17/11/2023 - https://search.clinicalgenome.org/CCID:006345 \nSources: ClinGen","entity_name":"TDO2","entity_type":"gene"},{"created":"2024-07-18T11:27:42.874459+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.95","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: TAT was added\ngene: TAT was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAT were set to 9544843; 16917729\nPhenotypes for gene: TAT were set to tyrosinemia type II MONDO:0010160\nReview for gene: TAT was set to GREEN\nAdded comment: Well reported gene-disease association with affected individuals having reports of a deficiency in hepatic tyrosine aminotransferase (TAT).\r\n\r\nClassified Definitive by Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:006320 \nSources: ClinGen","entity_name":"TAT","entity_type":"gene"},{"created":"2024-07-18T11:23:18.752047+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.95","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: SUOX was added\ngene: SUOX was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUOX were set to 28980090\nPhenotypes for gene: SUOX were set to isolated sulfite oxidase deficiency MONDO:0010089\nReview for gene: SUOX was set to GREEN\nAdded comment: Well established gene-disease association (reported in >40 patients).\r\n\r\nClassified Definitive by Aminoacidopathy GCEP on 22/03/2019 - https://search.clinicalgenome.org/CCID:006301 \nSources: ClinGen","entity_name":"SUOX","entity_type":"gene"},{"created":"2024-07-18T11:19:20.826900+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.95","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: SUGCT was added\ngene: SUGCT was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: SUGCT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUGCT were set to 18926513; 28766179; 29421601\nPhenotypes for gene: SUGCT were set to glutaric acidemia type 3 MONDO:0009283\nReview for gene: SUGCT was set to AMBER\nAdded comment: There is uncertain clinical relevance for this gene-disease association - reports of different clinical phenotypes between affected individuals and potentially a benign condition. Variants have been reported in >3 unrelated affected probands however their clinical presentations vary. \r\n\r\nClassified Moderate by Aminoacidopathy GCEP on 12/12/2022- https://search.clinicalgenome.org/CCID:006299 \nSources: ClinGen","entity_name":"SUGCT","entity_type":"gene"},{"created":"2024-07-18T11:13:18.325274+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.95","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: SPR was added\ngene: SPR was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPR were set to 33903016\nPhenotypes for gene: SPR were set to dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994\nReview for gene: SPR was set to GREEN\nAdded comment: Well-established gene-disease association with reported individuals having an inborn error of amino acid metabolism. \r\n\r\nClassified Definitive by Aminoacidopathy GCEP on 04/06/2021- https://search.clinicalgenome.org/CCID:006266 \nSources: ClinGen","entity_name":"SPR","entity_type":"gene"},{"created":"2024-07-18T11:08:45.869956+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.95","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: SLC7A9 was added\ngene: SLC7A9 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: SLC7A9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC7A9 were set to 23532419; 16609684; 25296721; 11157794; 10471498\nPhenotypes for gene: SLC7A9 were set to cystinuria MONDO:0009067\nReview for gene: SLC7A9 was set to GREEN\nAdded comment: Established gene-disease association with reported individuals having errors in amino acid transport and metabolism. \r\n\r\nClassified Definitive by Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:006202 \nSources: ClinGen","entity_name":"SLC7A9","entity_type":"gene"},{"created":"2024-07-18T11:05:51.617114+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.95","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: SLC7A7 was added\ngene: SLC7A7 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC7A7 were set to 10080182; 10080183; 15776247\nPhenotypes for gene: SLC7A7 were set to lysinuric protein intolerance MONDO:0009109\nReview for gene: SLC7A7 was set to GREEN\nAdded comment: Reported in at least 8 probands all having an error in amino acid transport. LoF is the mechanism of disease.\r\n\r\nClassified Definitive by Aminoacidopathy GCEP on 08/11/2019 - https://search.clinicalgenome.org/CCID:006201 \nSources: ClinGen","entity_name":"SLC7A7","entity_type":"gene"},{"created":"2024-07-18T11:02:10.269230+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.95","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: SLC6A8 was added\ngene: SLC6A8 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SLC6A8 were set to 27604308; 16738945\nPhenotypes for gene: SLC6A8 were set to creatine transporter deficiency MONDO:0010305\nReview for gene: SLC6A8 was set to GREEN\nAdded comment: Well-established gene disease association with reported individuals having error in creatine transport. \r\n\r\nClassified Definitive by Aminoacidopathy GCEP on 10/02/2020 - https://search.clinicalgenome.org/CCID:006200 \nSources: ClinGen","entity_name":"SLC6A8","entity_type":"gene"},{"created":"2024-07-18T10:53:14.064608+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.95","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: SLC6A6 was added\ngene: SLC6A6 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC6A6 were set to 31903486; 31345061\nPhenotypes for gene: SLC6A6 were set to hypotaurinemic retinal degeneration and cardiomyopathy MONDO:0007777\nReview for gene: SLC6A6 was set to AMBER\nAdded comment: 4 individuals reported with retinal degeneration while 2 (who are siblings) also reported cardiomyopathy. The proband (one of the siblings) was given oral taurine supplementation that reversed their phenotype (cardiomyopathy was reversed and the retinal degeneration was halted) (PMID: 31903486).\r\n\r\nClassified Limited by Aminoacidopathy GCEP on 10/03/2023 - https://search.clinicalgenome.org/CCID:006199 \nSources: ClinGen","entity_name":"SLC6A6","entity_type":"gene"},{"created":"2024-07-18T10:51:33.874714+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.9","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: ETFDH as ready","entity_name":"ETFDH","entity_type":"gene"},{"created":"2024-07-18T10:51:33.856246+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.9","user_name":"Lilian Downie","item_type":"entity","text":"Gene: etfdh has been classified as Green List (High Evidence).","entity_name":"ETFDH","entity_type":"gene"},{"created":"2024-07-18T10:51:25.778798+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.9","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: ETFDH were set to 31904027","entity_name":"ETFDH","entity_type":"gene"},{"created":"2024-07-18T10:51:22.840967+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.8","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: ETFDH were set to ","entity_name":"ETFDH","entity_type":"gene"},{"created":"2024-07-18T10:41:41.540593+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.95","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: SLC6A19 was added\ngene: SLC6A19 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: SLC6A19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC6A19 were set to 15286787; 15286788; 18484095\nPhenotypes for gene: SLC6A19 were set to Hartnup disease MONDO:0009324\nReview for gene: SLC6A19 was set to GREEN\nAdded comment: Established gene-disease association with >10 probands reported with clinical symptoms assocation with Hartnup disease. Mechanism of disease is LoF with affected individuals having a defect in amino acid transportation. \r\n\r\nClassified Definitive by Aminoacidopathy GCEP on 07/05/2020 - https://search.clinicalgenome.org/CCID:006196 \nSources: ClinGen","entity_name":"SLC6A19","entity_type":"gene"},{"created":"2024-07-18T10:37:09.887169+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.95","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: SLC3A1 was added\ngene: SLC3A1 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: SLC3A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC3A1 were set to 8054986; 16374432; 8486766\nPhenotypes for gene: SLC3A1 were set to cystinuria MONDO:0009067\nReview for gene: SLC3A1 was set to GREEN\nAdded comment: Established gene-disease association with reported individuals having biochemical abnormalities affecting cystine transportation.  \r\n\r\nClassified Definitive by Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:006188 \nSources: ClinGen","entity_name":"SLC3A1","entity_type":"gene"},{"created":"2024-07-18T10:31:29.951523+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.95","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: SLC38A8 was added\ngene: SLC38A8 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC38A8 were set to 32744312; 24290379; 24045842; 25451601; 24290379\nPhenotypes for gene: SLC38A8 were set to foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216\nReview for gene: SLC38A8 was set to GREEN\nAdded comment: Reported in >5 unrelated probands with reported errors in glutamate/glutamine transport. \r\n\r\nClassified Definitive by Aminoacidopathy GCEP on 10/02/2023 - https://search.clinicalgenome.org/CCID:006184 \nSources: ClinGen","entity_name":"SLC38A8","entity_type":"gene"},{"created":"2024-07-18T10:25:40.822552+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.95","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: SLC36A2 was added\ngene: SLC36A2 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: SLC36A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SLC36A2 were set to 19033659; 26141664\nPhenotypes for gene: SLC36A2 were set to iminoglycinuria MONDO:0009448\nReview for gene: SLC36A2 was set to RED\nAdded comment: IG phenotype is due to excess urinary excretion of proline, hydroxyproline and glycine which is thought to be benign. Variants have been reported in individuals with varying phenotypes - One homozygous individual reported with an IG phenotype while some heterozygous individuals reported to have hyperglycinuria. Biochemical abnormalities result in an IG phenotype is not a common clinical feature in the reported individuals. \r\n\r\nClassified Limitied by Aminoacidopathy GCEP on 11/04/2024 - https://search.clinicalgenome.org/CCID:006183 \nSources: ClinGen","entity_name":"SLC36A2","entity_type":"gene"},{"created":"2024-07-18T10:07:24.034486+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.95","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: SLC25A15 was added\ngene: SLC25A15 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A15 were set to 25874378\nPhenotypes for gene: SLC25A15 were set to ornithine translocase deficiency MONDO:0009393 (HHH Syndrome)\nReview for gene: SLC25A15 was set to GREEN\nAdded comment: Well established gene-disease association with reported individuals presenting with a biochemical triad of abnormalities - hyperornithinemia, hyperammonemia, and homocitrullinuria (severity of the clinical symptoms can vary).\r\n\r\nCommon variants in individuals with HHH syndrome\r\np.Phe188del \r\nFrench Canadian Founder - NFE GrpMax AF - 0.004% (reported in 62 hets globally)\r\n\r\np.Arg179X\r\nCommonly seen in Japanese patients - EAS GrpMax AF - 0.017% (reported in 26 hets globally)\r\n\r\nClassified Definitive by Aminoacidopathy GCEP on 04/12/2019 -https://search.clinicalgenome.org/CCID:006162 \nSources: ClinGen","entity_name":"SLC25A15","entity_type":"gene"},{"created":"2024-07-18T09:58:08.709726+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.95","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: SLC25A13 was added\ngene: SLC25A13 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A13 were set to 18367750; 10369257; 19036621; 18392553; 11343053; 31607264\nPhenotypes for gene: SLC25A13 were set to citrin deficiency MONDO:0016602\nReview for gene: SLC25A13 was set to GREEN\nAdded comment: Established gene-disease association with variants reported in >10 probands with reported biochemical abnormalities. Variants in this gene have been reported in both adult onset citrullinemia type 2 but also in individuals with neonatal intrahepatic cholestasis. \r\n\r\nMechanism of disease is biallelic loss of function - significantly reduced or absent glutamate transport in and aspartate transport out of mitochondria depriving argininosuccinate synthetase leading to the accumulation of citrulline and ammonia. \r\n\r\nClassified Definitive by Aminoacidopathy GCEP on 23/07/2021 - https://search.clinicalgenome.org/CCID:006161 \nSources: ClinGen","entity_name":"SLC25A13","entity_type":"gene"},{"created":"2024-07-18T09:45:50.710736+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.95","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: SLC1A4 was added\ngene: SLC1A4 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC1A4 were set to 25930971, 27711071, 29989513, 29652076, 26041762, 27193218, 30125339\nPhenotypes for gene: SLC1A4 were set to spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:0014725\nReview for gene: SLC1A4 was set to GREEN\nAdded comment: Reported in at least 9 individuals with reported biochemical abnormalities involving the L-serine transporter. \r\n\r\nClassified Definitive by Aminoacidopathy GCEP on 14/05/2021 - https://search.clinicalgenome.org/CCID:006155 \nSources: ClinGen","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2024-07-18T00:38:33.736562+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6062","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 32622957; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"B9D1","entity_type":"gene"},{"created":"2024-07-18T00:07:57.282836+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.44","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"changed review comment from: PMID:34462534 reported the identification of homozygous DDOST variant (c.1187G>A) in a Chinese patient who presented with feeding difficulty, lactose intolerance, facial dysmorphism, failure to thrive, strabismus, high myopia, astigmatism, hypotonia, developmental delay and situs inversus totalis. Serum transferrin isoelectrofocusing demonstrated defective glycosylation in the patient. T; to: PMID:34462534 reported the identification of homozygous DDOST variant (c.1187G>A) in a Chinese patient who presented with feeding difficulty, lactose intolerance, facial dysmorphism, failure to thrive, strabismus, high myopia, astigmatism, hypotonia, developmental delay and situs inversus totalis. Serum transferrin isoelectrofocusing demonstrated defective glycosylation in the patient.","entity_name":"DDOST","entity_type":"gene"},{"created":"2024-07-18T00:07:47.455102+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.44","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: DDOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 34462534; Phenotypes: Congenital disorder of glycosylation, type Ir, OMIM:614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDOST","entity_type":"gene"},{"created":"2024-07-18T00:06:55.294393+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1886","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: DDOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 34462534; Phenotypes: Congenital disorder of glycosylation, type Ir, OMIM:614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDOST","entity_type":"gene"},{"created":"2024-07-17T17:01:29.822007+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.7","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31904027; Phenotypes: Glutaric acidemia IIC, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ETFDH","entity_type":"gene"},{"created":"2024-07-17T16:59:44.366666+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.7","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32642440; Phenotypes: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ECHS1","entity_type":"gene"},{"created":"2024-07-17T16:49:11.456536+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.7","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22306653, 28328139, 29950491; Phenotypes: Perlman syndrome MIM# 267000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DIS3L2","entity_type":"gene"},{"created":"2024-07-17T16:46:51.808744+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.7","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DBT","entity_type":"gene"},{"created":"2024-07-17T16:30:56.983693+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.7","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: 35042319 8298639 9554743 10790207 7626145 16133174 28433102; Phenotypes: Wilson disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP7B","entity_type":"gene"},{"created":"2024-07-17T16:14:37.164121+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.7","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31067009, 10581255, 15840742; Phenotypes: Congenital disorder of glycosylation, type Id; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG3","entity_type":"gene"},{"created":"2024-07-17T15:22:45.429410+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.0","user_name":"Thomas Scerri","item_type":"entity","text":"edited their review of gene: SETD1A: Changed rating: GREEN; Changed publications: 29463886, 32346159, 36117209","entity_name":"SETD1A","entity_type":"gene"},{"created":"2024-07-17T15:22:20.563080+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.0","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS case with a de novo SETD1A frameshift variant (Eising et al., 2019; PMID: 29463886)\r\n\r\nFifteen further independent probands with loss-of-function SETD1A variants were investigated (Kummeling et al., 2021; PMID: 32346159) and \"global DD was reported in 14/15 individuals, including delayed speech and language development (14/14) and motor development (13/14)\".  However, only one proband was explicitly recorded with speech apraxia (proband 14; supplementary Table 1).\r\n\r\nSources: Expert list, Expert Review; to: First reported CAS case with a de novo SETD1A frameshift variant (Eising et al., 2019; PMID: 29463886)\r\n\r\nKaspi et al. (2022; PMID: 36117209) report a CAS proband with a de novo SETD1A splice acceptor variant.\r\n\r\nAn independent (unpublished) in-house CAS proband has a de novo SETD1A frameshift variant.\r\n\r\nFifteen further independent probands with loss-of-function SETD1A variants were investigated (Kummeling et al., 2021; PMID: 32346159) and \"global DD was reported in 14/15 individuals, including delayed speech and language development (14/14) and motor development (13/14)\".  However, only one proband was explicitly recorded with speech apraxia (proband 14; supplementary Table 1).\r\n\r\nSources: Expert list, Expert Review","entity_name":"SETD1A","entity_type":"gene"},{"created":"2024-07-17T13:59:06.845848+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FNIP1 as ready","entity_name":"FNIP1","entity_type":"gene"},{"created":"2024-07-17T13:59:06.833476+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fnip1 has been classified as Green List (High Evidence).","entity_name":"FNIP1","entity_type":"gene"},{"created":"2024-07-17T13:59:01.722889+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FNIP1 as Green List (high evidence)","entity_name":"FNIP1","entity_type":"gene"},{"created":"2024-07-17T13:59:01.704374+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fnip1 has been classified as Green List (High Evidence).","entity_name":"FNIP1","entity_type":"gene"},{"created":"2024-07-17T13:58:05.773890+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SENP7 as ready","entity_name":"SENP7","entity_type":"gene"},{"created":"2024-07-17T13:58:05.749958+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: senp7 has been classified as Green List (High Evidence).","entity_name":"SENP7","entity_type":"gene"},{"created":"2024-07-17T13:57:56.941204+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SENP7 as Green List (high evidence)","entity_name":"SENP7","entity_type":"gene"},{"created":"2024-07-17T13:57:56.924829+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: senp7 has been classified as Green List (High Evidence).","entity_name":"SENP7","entity_type":"gene"},{"created":"2024-07-17T13:57:04.181127+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SENP7 was added\ngene: SENP7 was added to Predominantly Antibody Deficiency. Sources: Literature\nMode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SENP7 were set to 38972567\nPhenotypes for gene: SENP7 were set to Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related\nReview for gene: SENP7 was set to GREEN\nAdded comment: 4 individuals from three unrelated families reported with biallelic variants and neurodevelopmental abnormalities, dysmorphism, and immunodeficiency, including hypogammaglobulinaemia. \nSources: Literature","entity_name":"SENP7","entity_type":"gene"},{"created":"2024-07-17T13:53:46.803849+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1886","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SENP7 were set to PMID: 37460201","entity_name":"SENP7","entity_type":"gene"},{"created":"2024-07-17T13:53:22.043034+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1885","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SENP7 as Green List (high evidence)","entity_name":"SENP7","entity_type":"gene"},{"created":"2024-07-17T13:53:22.030745+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1885","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: senp7 has been classified as Green List (High Evidence).","entity_name":"SENP7","entity_type":"gene"},{"created":"2024-07-17T13:52:41.147360+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1884","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 38972567, 37460201; Phenotypes: Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SENP7","entity_type":"gene"},{"created":"2024-07-17T13:50:44.563084+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SENP7 were set to PMID: 37460201; 38972567","entity_name":"SENP7","entity_type":"gene"},{"created":"2024-07-17T13:48:49.730306+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SENP7 were set to PMID: 37460201","entity_name":"SENP7","entity_type":"gene"}]}