{"count":220403,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=947","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=945","results":[{"created":"2022-03-05T13:50:49.702195+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfpm2 has been classified as Amber List (Moderate Evidence).","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2022-03-05T13:50:47.407166+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZFPM2 were changed from  to Tetralogy of Fallot, MIM# 187500","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2022-03-05T13:50:19.145329+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZFPM2 were set to ","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2022-03-05T13:49:50.741370+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZFPM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2022-03-05T13:48:07.358421+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZFPM2 as Amber List (moderate evidence)","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2022-03-05T13:48:07.344183+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfpm2 has been classified as Amber List (Moderate Evidence).","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2022-03-05T13:47:37.614665+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZFPM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21919901, 24469719, 26959486; Phenotypes: Tetralogy of Fallot, MIM# 187500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2022-03-05T13:46:29.843595+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11139","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZFPM2 as ready","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2022-03-05T13:46:29.834080+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11139","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfpm2 has been classified as Green List (High Evidence).","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2022-03-05T13:46:20.802235+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11139","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZFPM2 were changed from  to Diaphragmatic hernia 3, MIM# 610187; 46XY sex reversal 9 (MIM#616067); Tetralogy of Fallot, MIM# 187500","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2022-03-05T13:46:00.619757+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11138","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZFPM2 were set to ","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2022-03-05T13:45:39.417986+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11137","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZFPM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2022-03-05T13:45:15.252257+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11136","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZFPM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16103912, 17568391, 24702427, 24549039, 27899157, 31962012, 12223418, 20807224, 21919901, 24469719, 26959486; Phenotypes: Diaphragmatic hernia 3, MIM# 610187, 46XY sex reversal 9 (MIM#616067), Tetralogy of Fallot, MIM# 187500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2022-03-05T12:04:17.080199+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAN2C1 were changed from MAN2C1-related neurodevelopmental disorder MONDO:0700092 to Congenital disorder of deglycosylation 2, MIM# 619775","entity_name":"MAN2C1","entity_type":"gene"},{"created":"2022-03-05T12:03:48.292865+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of deglycosylation 2, MIM# 619775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAN2C1","entity_type":"gene"},{"created":"2022-03-05T12:03:29.954259+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4535","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAN2C1 as ready","entity_name":"MAN2C1","entity_type":"gene"},{"created":"2022-03-05T12:03:29.944077+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4535","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: man2c1 has been classified as Green List (High Evidence).","entity_name":"MAN2C1","entity_type":"gene"},{"created":"2022-03-05T11:58:58.562943+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4535","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAN2C1 were changed from neurodevelopmental disorder MONDO:0700092 MAN2C1-related to Congenital disorder of deglycosylation 2, MIM# 619775","entity_name":"MAN2C1","entity_type":"gene"},{"created":"2022-03-05T11:57:57.926448+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4534","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAN2C1 as Green List (high evidence)","entity_name":"MAN2C1","entity_type":"gene"},{"created":"2022-03-05T11:57:57.915488+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4534","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: man2c1 has been classified as Green List (High Evidence).","entity_name":"MAN2C1","entity_type":"gene"},{"created":"2022-03-05T11:57:25.308627+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4533","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of deglycosylation 2, MIM# 619775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAN2C1","entity_type":"gene"},{"created":"2022-03-05T11:57:02.878091+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11136","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAN2C1 were changed from neurodevelopmental disorder, MAN2C1-related, MONDO:0700092 to Congenital disorder of deglycosylation 2, MIM# 619775","entity_name":"MAN2C1","entity_type":"gene"},{"created":"2022-03-05T11:56:41.358995+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11135","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of deglycosylation 2, MIM# 619775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAN2C1","entity_type":"gene"},{"created":"2022-03-05T11:56:22.149131+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.46","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAN2C1 were changed from neurodevelopmental disorder MONDO:0700092 MAN2C1-related to Congenital disorder of deglycosylation 2, MIM# 619775","entity_name":"MAN2C1","entity_type":"gene"},{"created":"2022-03-05T11:55:48.802477+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of deglycosylation 2, MIM# 619775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAN2C1","entity_type":"gene"},{"created":"2022-03-05T11:55:26.802858+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAN2C1 were changed from neurodevelopmental disorder, MAN2C1-related, MONDO:0700092 to Congenital disorder of deglycosylation 2, MIM# 619775","entity_name":"MAN2C1","entity_type":"gene"},{"created":"2022-03-05T11:54:19.242626+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of deglycosylation 2, MIM# 619775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAN2C1","entity_type":"gene"},{"created":"2022-03-05T11:53:26.332311+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPA1 as ready","entity_name":"RPA1","entity_type":"gene"},{"created":"2022-03-05T11:53:26.320650+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpa1 has been classified as Green List (High Evidence).","entity_name":"RPA1","entity_type":"gene"},{"created":"2022-03-05T11:53:24.280651+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPA1 were changed from New TBD gene ASH 2020 St Judes to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767; Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres","entity_name":"RPA1","entity_type":"gene"},{"created":"2022-03-05T11:53:15.514157+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPA1 were set to ","entity_name":"RPA1","entity_type":"gene"},{"created":"2022-03-05T11:53:03.724625+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: RPA1 was changed from  to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"RPA1","entity_type":"gene"},{"created":"2022-03-05T11:52:57.522515+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPA1","entity_type":"gene"},{"created":"2022-03-05T11:52:47.292466+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RPA1: Changed phenotypes: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767, Bone marrow failure, T- and B-cell lymphopaenia, pulmonary fibrosis, skin manifestations, short telomeres","entity_name":"RPA1","entity_type":"gene"},{"created":"2022-03-05T11:51:33.575235+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPA1 were changed from Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767; Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres","entity_name":"RPA1","entity_type":"gene"},{"created":"2022-03-05T11:50:54.515093+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RPA1: Changed phenotypes: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767, Bone marrow failure, T- and B-cell lymphopaenia, pulmonary fibrosis, skin manifestations, short telomeres","entity_name":"RPA1","entity_type":"gene"},{"created":"2022-03-05T11:50:23.333688+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11135","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPA1 were changed from Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767; Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres","entity_name":"RPA1","entity_type":"gene"},{"created":"2022-03-05T11:49:57.125439+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11134","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RPA1: Changed phenotypes: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767, Bone marrow failure, T- and B-cell lymphopaenia, pulmonary fibrosis, skin manifestations, short telomeres","entity_name":"RPA1","entity_type":"gene"},{"created":"2022-03-05T11:49:40.750140+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPA1 were changed from Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767; Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres","entity_name":"RPA1","entity_type":"gene"},{"created":"2022-03-05T11:49:05.615888+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RPA1: Changed phenotypes: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767, Bone marrow failure, T- and B-cell lymphopaenia, pulmonary fibrosis, skin manifestations, short telomeres","entity_name":"RPA1","entity_type":"gene"},{"created":"2022-03-05T11:48:29.369763+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11134","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OPCML as ready","entity_name":"OPCML","entity_type":"gene"},{"created":"2022-03-05T11:48:29.355023+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11134","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: opcml has been classified as Red List (Low Evidence).","entity_name":"OPCML","entity_type":"gene"},{"created":"2022-03-05T11:40:36.781316+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11134","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OPCML were changed from  to Ovarian cancer, somatic, MIM#167000","entity_name":"OPCML","entity_type":"gene"},{"created":"2022-03-05T11:40:14.289069+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11133","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OPCML as Red List (low evidence)","entity_name":"OPCML","entity_type":"gene"},{"created":"2022-03-05T11:40:14.279626+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: opcml has been classified as Red List (Low Evidence).","entity_name":"OPCML","entity_type":"gene"},{"created":"2022-03-05T11:37:23.149627+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4533","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NFE2L1 as ready","entity_name":"NFE2L1","entity_type":"gene"},{"created":"2022-03-05T11:37:23.138027+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4533","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfe2l1 has been classified as Red List (Low Evidence).","entity_name":"NFE2L1","entity_type":"gene"},{"created":"2022-03-05T11:37:13.137584+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4533","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NFE2L1 was added\ngene: NFE2L1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NFE2L1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NFE2L1 were set to 35112409\nPhenotypes for gene: NFE2L1 were set to Syndromic disease, MONDO:0002254\nReview for gene: NFE2L1 was set to RED\nAdded comment: A single patient with developmental delay, hypotonia, hypospadias, bifid scrotum, and failure to thrive, with a heterozygous nonsense variant in the last exon. In vitro functional assays suggest a dominant-negative effect. \nSources: Literature","entity_name":"NFE2L1","entity_type":"gene"},{"created":"2022-03-05T11:32:29.905638+11:00","panel_name":"Stickler Syndrome","panel_id":3114,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Note mono-allelic variants have been associated with isolated deafness and retinal phenotypes which overlap with Stickler syndrome.; to: Note mono-allelic variants have been associated with isolated deafness and retinal phenotypes which overlap with Stickler syndrome.\r\n\r\nHowever, of the two families with isolated retinal phenotype, one of the variants reported has a high population frequency, not compatible with a monogenic disorder, PMID 33633367.","entity_name":"COL9A3","entity_type":"gene"},{"created":"2022-03-04T16:51:57.184010+11:00","panel_name":"Vitreoretinopathy","panel_id":3113,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COL9A3 as Amber List (moderate evidence)","entity_name":"COL9A3","entity_type":"gene"},{"created":"2022-03-04T16:51:57.161285+11:00","panel_name":"Vitreoretinopathy","panel_id":3113,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col9a3 has been classified as Amber List (Moderate Evidence).","entity_name":"COL9A3","entity_type":"gene"},{"created":"2022-03-04T15:01:31.491476+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11132","user_name":"Naomi Baker","item_type":"entity","text":"reviewed gene: OPCML: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarian cancer, somatic, MIM#167000; Mode of inheritance: Other","entity_name":"OPCML","entity_type":"gene"},{"created":"2022-03-04T10:33:01.898540+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11132","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NFE2L1 as ready","entity_name":"NFE2L1","entity_type":"gene"},{"created":"2022-03-04T10:33:01.887048+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11132","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nfe2l1 has been classified as Red List (Low Evidence).","entity_name":"NFE2L1","entity_type":"gene"},{"created":"2022-03-04T10:32:21.542785+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11132","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NFE2L1 was added\ngene: NFE2L1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NFE2L1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NFE2L1 were set to 35112409\nPhenotypes for gene: NFE2L1 were set to Syndromic disease, MONDO:0002254\nReview for gene: NFE2L1 was set to RED\nAdded comment: A single patient with developmental delay, hypotonia, hypospadias, bifid scrotum, and failure to thrive, with a heterozygous nonsense variant in the last exon. In vitro functional assays suggest a dominant-negative effect. \nSources: Literature","entity_name":"NFE2L1","entity_type":"gene"},{"created":"2022-03-04T09:29:55.020545+11:00","panel_name":"Vitreoretinopathy","panel_id":3113,"panel_version":"1.2","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: In family 2 with missense Gly130Ser, there is 228 hets 0 homs in gnomAD v2. \r\n\r\nThis leaves 1 family with the splice variant which is absent in gnomAD, cDNA studies to prove a splice defect and segregation in 14 affecteds across 2 generations; to: In family 2 with missense Gly130Ser, there is 228 hets 0 homs in gnomAD v2. \r\n\r\nThis leaves 1 family with the splice variant which is absent in gnomAD, cDNA studies to prove a splice defect and segregation in 11 affecteds (genotyped) across 2 generations","entity_name":"COL9A3","entity_type":"gene"},{"created":"2022-03-03T18:51:36.523044+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11131","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZFP57 as ready","entity_name":"ZFP57","entity_type":"gene"},{"created":"2022-03-03T18:51:36.506106+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11131","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfp57 has been classified as Green List (High Evidence).","entity_name":"ZFP57","entity_type":"gene"},{"created":"2022-03-03T18:51:19.279638+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11131","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZFP57 were changed from  to IUGR; Diabetes mellitus, transient neonatal 1 OMIM:601410; Multi Locus Imprinting Disturbance; diabetes mellitus, transient neonatal, 1, MONDO:0011073","entity_name":"ZFP57","entity_type":"gene"},{"created":"2022-03-03T18:50:32.616818+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11130","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZFP57 were set to ","entity_name":"ZFP57","entity_type":"gene"},{"created":"2022-03-03T18:50:10.690197+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11129","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZFP57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZFP57","entity_type":"gene"},{"created":"2022-03-03T18:49:39.931914+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11128","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: None; Publications: 18622393, 27075368, 23150280, 30315371, 31399135, 33053156; Phenotypes: IUGR, Diabetes mellitus, transient neonatal 1 OMIM:601410, Multi Locus Imprinting Disturbance, diabetes mellitus, transient neonatal, 1MONDO:0011073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZFP57","entity_type":"gene"},{"created":"2022-03-03T18:47:26.561149+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11128","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: XYLT2 as ready","entity_name":"XYLT2","entity_type":"gene"},{"created":"2022-03-03T18:47:26.551029+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11128","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xylt2 has been classified as Green List (High Evidence).","entity_name":"XYLT2","entity_type":"gene"},{"created":"2022-03-03T18:47:18.990565+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11128","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: XYLT2 were changed from  to Spondyloocular syndrome MIM# 605822","entity_name":"XYLT2","entity_type":"gene"},{"created":"2022-03-03T18:46:59.379521+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11127","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: XYLT2 were set to ","entity_name":"XYLT2","entity_type":"gene"},{"created":"2022-03-03T18:46:38.409643+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11126","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: XYLT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"XYLT2","entity_type":"gene"},{"created":"2022-03-03T18:46:19.647639+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11125","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: XYLT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26027496, 26987875, 30891060, 28484880; Phenotypes: Spondyloocular syndrome MIM# 605822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"XYLT2","entity_type":"gene"},{"created":"2022-03-03T18:44:56.617137+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11125","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: XRCC3 as ready","entity_name":"XRCC3","entity_type":"gene"},{"created":"2022-03-03T18:44:56.604304+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11125","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xrcc3 has been classified as Red List (Low Evidence).","entity_name":"XRCC3","entity_type":"gene"},{"created":"2022-03-03T18:44:47.651485+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11125","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: XRCC3 as Red List (low evidence)","entity_name":"XRCC3","entity_type":"gene"},{"created":"2022-03-03T18:44:47.639467+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11125","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xrcc3 has been classified as Red List (Low Evidence).","entity_name":"XRCC3","entity_type":"gene"},{"created":"2022-03-03T18:44:30.296241+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11124","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: XRCC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"XRCC3","entity_type":"gene"},{"created":"2022-03-03T18:43:58.258173+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: XIAP were changed from  to Lymphoproliferative syndrome, X-linked, 2, MIM# 300635","entity_name":"XIAP","entity_type":"gene"},{"created":"2022-03-03T18:43:20.447323+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: XIAP were set to 22228567; 25943627","entity_name":"XIAP","entity_type":"gene"},{"created":"2022-03-03T18:42:59.155455+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: XIAP were set to ","entity_name":"XIAP","entity_type":"gene"},{"created":"2022-03-03T18:42:37.780691+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: XIAP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"XIAP","entity_type":"gene"},{"created":"2022-03-03T18:42:25.650954+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: XIAP as ready","entity_name":"XIAP","entity_type":"gene"},{"created":"2022-03-03T18:42:25.639472+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xiap has been classified as Green List (High Evidence).","entity_name":"XIAP","entity_type":"gene"},{"created":"2022-03-03T18:42:16.291611+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: XIAP were changed from  to Lymphoproliferative syndrome, X-linked, 2, MIM# 300635","entity_name":"XIAP","entity_type":"gene"},{"created":"2022-03-03T18:41:55.707955+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11124","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: XIAP as ready","entity_name":"XIAP","entity_type":"gene"},{"created":"2022-03-03T18:41:55.698189+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11124","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xiap has been classified as Green List (High Evidence).","entity_name":"XIAP","entity_type":"gene"},{"created":"2022-03-03T18:41:47.435488+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: XIAP were set to ","entity_name":"XIAP","entity_type":"gene"},{"created":"2022-03-03T18:41:42.249327+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22228567, 25943627; Phenotypes: Lymphoproliferative syndrome, X-linked, 2, MIM# 300635; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"XIAP","entity_type":"gene"},{"created":"2022-03-03T18:41:01.811395+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: XIAP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"XIAP","entity_type":"gene"},{"created":"2022-03-03T18:40:29.389133+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22228567, 25943627; Phenotypes: Lymphoproliferative syndrome, X-linked, 2, MIM# 300635; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"XIAP","entity_type":"gene"},{"created":"2022-03-03T18:40:23.285130+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11124","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: XIAP were changed from  to Lymphoproliferative syndrome, X-linked, 2, MIM# 300635","entity_name":"XIAP","entity_type":"gene"},{"created":"2022-03-03T18:40:09.379398+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11123","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: XIAP were set to ","entity_name":"XIAP","entity_type":"gene"},{"created":"2022-03-03T18:39:49.520065+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11122","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: XIAP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"XIAP","entity_type":"gene"},{"created":"2022-03-03T18:39:30.362072+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11121","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22228567, 25943627; Phenotypes: Lymphoproliferative syndrome, X-linked, 2, MIM# 300635; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"XIAP","entity_type":"gene"},{"created":"2022-03-03T18:36:59.521855+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11121","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: XG as ready","entity_name":"XG","entity_type":"gene"},{"created":"2022-03-03T18:36:59.509944+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11121","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xg has been classified as Red List (Low Evidence).","entity_name":"XG","entity_type":"gene"},{"created":"2022-03-03T18:36:40.923141+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11121","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: XG as Red List (low evidence)","entity_name":"XG","entity_type":"gene"},{"created":"2022-03-03T18:36:40.913218+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11121","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xg has been classified as Red List (Low Evidence).","entity_name":"XG","entity_type":"gene"},{"created":"2022-03-03T18:36:21.767799+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11120","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: XG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"XG","entity_type":"gene"},{"created":"2022-03-03T18:33:32.585431+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4532","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: QDPR as ready","entity_name":"QDPR","entity_type":"gene"},{"created":"2022-03-03T18:33:32.572615+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4532","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: qdpr has been classified as Green List (High Evidence).","entity_name":"QDPR","entity_type":"gene"},{"created":"2022-03-03T18:33:28.323063+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4532","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: QDPR were changed from  to Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630","entity_name":"QDPR","entity_type":"gene"},{"created":"2022-03-03T18:32:02.464481+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4531","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: QDPR were set to ","entity_name":"QDPR","entity_type":"gene"},{"created":"2022-03-03T18:31:31.011416+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4530","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: QDPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"QDPR","entity_type":"gene"}]}