{"count":220790,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=996","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=994","results":[{"created":"2022-02-14T14:16:18.034926+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3398","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mymk has been classified as Red List (Low Evidence).","entity_name":"MYMK","entity_type":"gene"},{"created":"2022-02-14T14:06:32.272864+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3397","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: FLRT3: Rating: RED; Mode of pathogenicity: None; Publications: 23643382, 31200363; Phenotypes: Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"FLRT3","entity_type":"gene"},{"created":"2022-02-14T13:58:58.618998+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3397","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYL1 as ready","entity_name":"MYL1","entity_type":"gene"},{"created":"2022-02-14T13:58:58.607931+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3397","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myl1 has been classified as Red List (Low Evidence).","entity_name":"MYL1","entity_type":"gene"},{"created":"2022-02-14T13:58:45.803957+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3397","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYL1 as Red List (low evidence)","entity_name":"MYL1","entity_type":"gene"},{"created":"2022-02-14T13:58:45.794558+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3397","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myl1 has been classified as Red List (Low Evidence).","entity_name":"MYL1","entity_type":"gene"},{"created":"2022-02-14T13:30:57.649730+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3396","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: TMEM126B: Rating: AMBER; Mode of pathogenicity: None; Publications: 27374774, 27374773; Phenotypes: Mitochondrial complex I deficiency, nuclear type 29 (MIM#618250); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM126B","entity_type":"gene"},{"created":"2022-02-14T13:28:12.563599+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10953","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: FLAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34454814, 34718578, 31392824, 30982706, 30311138, 30427553, 28433476, 27259049, 25058219; Phenotypes: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FLAD1","entity_type":"gene"},{"created":"2022-02-14T13:27:02.125719+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3396","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: FLAD1: Rating: RED; Mode of pathogenicity: None; Publications: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency\tMIM#255100; Phenotypes: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FLAD1","entity_type":"gene"},{"created":"2022-02-14T13:12:24.956450+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3396","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: TK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type) (MIM#609560); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TK2","entity_type":"gene"},{"created":"2022-02-14T13:06:01.725084+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3396","user_name":"Ain Roesley","item_type":"entity","text":"commented on gene: FGF20: Multiple affected fetuses in a consanguineous family; functional data.","entity_name":"FGF20","entity_type":"gene"},{"created":"2022-02-14T13:06:01.079921+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3396","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: FGF20: Rating: AMBER; Mode of pathogenicity: None; Publications: 22698282; Phenotypes: Renal hypodysplasia/aplasia 2, MIM#615721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FGF20","entity_type":"gene"},{"created":"2022-02-14T12:57:42.785655+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3396","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: FGF17: Rating: RED; Mode of pathogenicity: None; Publications: 31200363, 31748124, 23643382; Phenotypes: Hypogonadotropic hypogonadism 20 with or without anosmia MIM#615270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"FGF17","entity_type":"gene"},{"created":"2022-02-14T12:57:34.719610+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3396","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: TEK: Rating: RED; Mode of pathogenicity: None; Publications: 19888299; Phenotypes: Glaucoma 3, primary congenital, E (MIM#617272), Venous malformations, multiple cutaneous and mucosal (MIM#600195); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TEK","entity_type":"gene"},{"created":"2022-02-14T12:53:15.825033+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10953","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: 31200363;\r\n1x individual\r\n\r\n31748124\r\n3x unrelated individuals. 1 has p.48_52del and another variant in OTUD4 (no current mendelian disease association), 1x with Pro120Leu (5 hets in gnomAD) and 1x with Lys191Arg (55 hets in gnomad)\r\n\r\n23643382 \r\n3x unrelated individuals, including 1 large consanguineous 10-generation French Canadian family.\r\nIn this large family, 3 other variants in FGFR1, HS6ST1, and FLRT3 were identified. None of the other affecteds carried the FGF17 variant\r\n\r\nSummary: 3x individuals with convincing evidence; to: PMID:31200363;\r\n1x individual\r\n\r\nPMID:31748124\r\n3x unrelated individuals. 1 has p.48_52del and another variant in OTUD4 (no current mendelian disease association), 1x with Pro120Leu (5 hets in gnomAD) and 1x with Lys191Arg (55 hets in gnomad)\r\n\r\nPMID:23643382 \r\n3x unrelated individuals, including 1 large consanguineous 10-generation French Canadian family.\r\nIn this large family, 3 other variants in FGFR1, HS6ST1, and FLRT3 were identified. None of the other affecteds carried the FGF17 variant\r\n\r\nSummary: 3x individuals with convincing evidence","entity_name":"FGF17","entity_type":"gene"},{"created":"2022-02-14T12:52:59.786236+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10953","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: FGF17: Rating: GREEN; Mode of pathogenicity: None; Publications: 31200363, 31748124, 23643382; Phenotypes: Hypogonadotropic hypogonadism 20 with or without anosmia MIM#615270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"FGF17","entity_type":"gene"},{"created":"2022-02-14T12:42:52.748219+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3396","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: TBXAS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ghosal hematodiaphyseal syndrome (MIM#231095); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBXAS1","entity_type":"gene"},{"created":"2022-02-14T12:31:01.849091+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3396","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: TANGO2: Rating: RED; Mode of pathogenicity: None; Publications: 26805781, 26805782, 30245509; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MIM#616878); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TANGO2","entity_type":"gene"},{"created":"2022-02-14T12:06:19.153822+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3396","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: ZFYVE26: Rating: RED; Mode of pathogenicity: None; Publications: 34057829; Phenotypes: Spastic paraplegia 15, autosomal recessive MIM#270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2022-02-14T12:00:15.681613+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3396","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: SYP: Rating: RED; Mode of pathogenicity: None; Publications: 19377476; Phenotypes: Intellectual developmental disorder, X-linked 96 (MIM#300802); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SYP","entity_type":"gene"},{"created":"2022-02-14T11:55:34.710263+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3396","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: CYC1: Rating: RED; Mode of pathogenicity: None; Publications: 23910460; Phenotypes: Mitochondrial complex III deficiency, nuclear type 6, MIM# 615453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYC1","entity_type":"gene"},{"created":"2022-02-14T11:54:20.456214+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10953","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: Genereviews:\r\n>70 individuals reported; to: Genereviews:\r\n>70 individuals reported.\r\n\r\nWhile onset of spasticity is typically in mid- to late childhood or adolescence (i.e., between ages 5 and 18 years), other manifestations, such as developmental delay or learning disability, may be present earlier, often preceding motor involvement. Individuals with adult onset have also been reported.","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2022-02-14T11:51:47.962631+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10953","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: None; Publications: 34057829; Phenotypes: Spastic paraplegia 15, autosomal recessive MIM#270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2022-02-14T11:49:01.388111+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3396","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: SURF1: Rating: RED; Mode of pathogenicity: None; Publications: 23829769; Phenotypes: Charcot-Marie-Tooth disease, type 4K (MIM#616684), Mitochondrial complex IV deficiency, nuclear type 1 (MIM#220110); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SURF1","entity_type":"gene"},{"created":"2022-02-14T11:40:20.079604+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3396","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: ZDHHC9: Rating: RED; Mode of pathogenicity: None; Publications: Mental retardation, X-linked syndromic, Raymond typeMIM# 300799; Phenotypes: Mental retardation, X-linked syndromic, Raymond typeMIM# 300799; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes","entity_name":"ZDHHC9","entity_type":"gene"},{"created":"2022-02-14T11:36:42.109516+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3396","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH7 as ready","entity_name":"MYH7","entity_type":"gene"},{"created":"2022-02-14T11:36:42.097621+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3396","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh7 has been classified as Green List (High Evidence).","entity_name":"MYH7","entity_type":"gene"},{"created":"2022-02-14T11:36:38.777052+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3396","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYH7 were changed from Cardiomyopathy, hypertrophic, 1, OMIM:192600; Laing early-onset distal myopathy, MONDO:0008050; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Dilated cardiomyopathy 1S, MONDO:0013262 to Ebstein anomaly; Laing distal myopathy, MIM# 160500","entity_name":"MYH7","entity_type":"gene"},{"created":"2022-02-14T11:35:52.534083+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3395","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYH7 were set to 22859017; 26337809; 25547560","entity_name":"MYH7","entity_type":"gene"},{"created":"2022-02-14T11:35:20.290678+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3394","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: MYH7 was changed from  to Other","entity_name":"MYH7","entity_type":"gene"},{"created":"2022-02-14T11:35:06.703544+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3393","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYH7 as Green List (high evidence)","entity_name":"MYH7","entity_type":"gene"},{"created":"2022-02-14T11:35:06.690942+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3393","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh7 has been classified as Green List (High Evidence).","entity_name":"MYH7","entity_type":"gene"},{"created":"2022-02-14T11:33:59.581603+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3392","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH2 as ready","entity_name":"MYH2","entity_type":"gene"},{"created":"2022-02-14T11:33:59.564044+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3392","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh2 has been classified as Green List (High Evidence).","entity_name":"MYH2","entity_type":"gene"},{"created":"2022-02-14T11:33:54.540422+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3392","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYH2 were set to 15548556; 11114175; 24193343; 23388406; 20418530; 23489661","entity_name":"MYH2","entity_type":"gene"},{"created":"2022-02-14T11:33:36.145438+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3391","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYH2 as Green List (high evidence)","entity_name":"MYH2","entity_type":"gene"},{"created":"2022-02-14T11:33:36.130431+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3391","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh2 has been classified as Green List (High Evidence).","entity_name":"MYH2","entity_type":"gene"},{"created":"2022-02-14T11:32:58.861806+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3390","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MSMO1 as ready","entity_name":"MSMO1","entity_type":"gene"},{"created":"2022-02-14T11:32:58.850932+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3390","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msmo1 has been classified as Green List (High Evidence).","entity_name":"MSMO1","entity_type":"gene"},{"created":"2022-02-14T11:32:54.027025+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3390","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MSMO1 were set to 21285510; 24144731","entity_name":"MSMO1","entity_type":"gene"},{"created":"2022-02-14T11:32:25.985461+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3389","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MSMO1 as Green List (high evidence)","entity_name":"MSMO1","entity_type":"gene"},{"created":"2022-02-14T11:32:25.974634+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3389","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msmo1 has been classified as Green List (High Evidence).","entity_name":"MSMO1","entity_type":"gene"},{"created":"2022-02-14T11:31:24.721759+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3388","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRPS34 as ready","entity_name":"MRPS34","entity_type":"gene"},{"created":"2022-02-14T11:31:24.712686+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3388","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrps34 has been classified as Amber List (Moderate Evidence).","entity_name":"MRPS34","entity_type":"gene"},{"created":"2022-02-14T11:31:20.981106+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3388","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPS34 were changed from Leigh Syndrome with Instability of the Small Mitoribosomal Subunit to Combined oxidative phosphorylation deficiency 32, MIM# 617664","entity_name":"MRPS34","entity_type":"gene"},{"created":"2022-02-14T11:31:05.732473+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3387","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MRPS34 were set to ","entity_name":"MRPS34","entity_type":"gene"},{"created":"2022-02-14T11:30:49.865442+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3386","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Six individuals from 4 unrelated families; clinical presentation is with developmental delay/regression. More variable features include movement disorders, microcephaly, strabismus, nystagmus, optic atrophy. \nSources: Expert list; to: Six individuals from 4 unrelated families; clinical presentation is with developmental delay/regression. More variable features include movement disorders, microcephaly, strabismus, nystagmus, optic atrophy.\r\n\r\nOnset of microcephaly uncertain, other clinical features present post-natally.\r\n\r\nSources: Expert list","entity_name":"MRPS34","entity_type":"gene"},{"created":"2022-02-14T11:30:28.762129+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10953","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: >10 families reported; to: >10 families reported.\r\n\r\nIntra-genic CNV in 2 families","entity_name":"ZDHHC9","entity_type":"gene"},{"created":"2022-02-14T11:30:11.466023+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3386","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MRPS34: Changed rating: AMBER; Changed phenotypes: Combined oxidative phosphorylation deficiency 32, MIM# 617664","entity_name":"MRPS34","entity_type":"gene"},{"created":"2022-02-14T11:29:11.961901+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3386","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRAS as ready","entity_name":"MRAS","entity_type":"gene"},{"created":"2022-02-14T11:29:11.950309+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3386","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mras has been classified as Green List (High Evidence).","entity_name":"MRAS","entity_type":"gene"},{"created":"2022-02-14T11:29:03.897455+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3386","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MRAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MRAS","entity_type":"gene"},{"created":"2022-02-14T11:28:50.322559+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3385","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MRAS as Green List (high evidence)","entity_name":"MRAS","entity_type":"gene"},{"created":"2022-02-14T11:28:50.308603+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3385","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mras has been classified as Green List (High Evidence).","entity_name":"MRAS","entity_type":"gene"},{"created":"2022-02-14T11:28:50.127673+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10953","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: ZDHHC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26000327, 29681091; Phenotypes: Mental retardation, X-linked syndromic, Raymond typeMIM# 300799; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes","entity_name":"ZDHHC9","entity_type":"gene"},{"created":"2022-02-14T11:21:58.918511+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3384","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MOGS as ready","entity_name":"MOGS","entity_type":"gene"},{"created":"2022-02-14T11:21:58.906441+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3384","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mogs has been classified as Green List (High Evidence).","entity_name":"MOGS","entity_type":"gene"},{"created":"2022-02-14T11:21:54.562041+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3384","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MOGS were set to ","entity_name":"MOGS","entity_type":"gene"},{"created":"2022-02-14T11:21:40.543859+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3383","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MOGS as Green List (high evidence)","entity_name":"MOGS","entity_type":"gene"},{"created":"2022-02-14T11:21:40.532158+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3383","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mogs has been classified as Green List (High Evidence).","entity_name":"MOGS","entity_type":"gene"},{"created":"2022-02-14T11:21:24.773941+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3382","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: STXBP1: Rating: RED; Mode of pathogenicity: None; Publications: 31855252, 18469812; Phenotypes: Developmental and epileptic encephalopathy 4 (MIM#612164); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"STXBP1","entity_type":"gene"},{"created":"2022-02-14T11:20:57.131950+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3382","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MN1 as ready","entity_name":"MN1","entity_type":"gene"},{"created":"2022-02-14T11:20:57.121962+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3382","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mn1 has been classified as Green List (High Evidence).","entity_name":"MN1","entity_type":"gene"},{"created":"2022-02-14T11:20:48.822881+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3382","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MN1","entity_type":"gene"},{"created":"2022-02-14T11:20:38.480075+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3381","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MN1 as Green List (high evidence)","entity_name":"MN1","entity_type":"gene"},{"created":"2022-02-14T11:20:38.470646+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3381","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mn1 has been classified as Green List (High Evidence).","entity_name":"MN1","entity_type":"gene"},{"created":"2022-02-14T11:20:27.196242+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3380","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Over 20 individuals described with de novo truncating variants in this gene; these cluster in the C-terminal and the authors postulate that that syndrome is not due to MN1 haploinsufficiency but rather is the result of dominantly acting C-terminally truncated MN1 protein. \nSources: Literature; to: Over 20 individuals described with de novo truncating variants in this gene; these cluster in the C-terminal and the authors postulate that that syndrome is not due to MN1 haploinsufficiency but rather is the result of dominantly acting C-terminally truncated MN1 protein. \r\n\r\nDiaphragmatic hernia, craniosynostosis and brain abnormalities reported.\r\n\r\nSources: Literature","entity_name":"MN1","entity_type":"gene"},{"created":"2022-02-14T11:19:02.014250+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3380","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MITF as ready","entity_name":"MITF","entity_type":"gene"},{"created":"2022-02-14T11:19:02.001566+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3380","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mitf has been classified as Green List (High Evidence).","entity_name":"MITF","entity_type":"gene"},{"created":"2022-02-14T11:18:59.796594+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3380","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: XPC: Rating: RED; Mode of pathogenicity: None; Publications: 10447254; Phenotypes: Xeroderma pigmentosum, group C, MIM# 278720, MONDO:0010211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"XPC","entity_type":"gene"},{"created":"2022-02-14T11:18:52.497992+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3380","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MITF were changed from Tietz albinism-deafness syndrome, 103500; Waardenburg syndrome/ocular albinism, digenic, 103470; TIETZ SYNDROME; Waardenburg syndrome, type 2A, 193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; COMMAD syndrome, 617306; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM to COMMAD syndrome, MIM# 617306","entity_name":"MITF","entity_type":"gene"},{"created":"2022-02-14T11:18:39.172173+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3379","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MITF were set to 27889061","entity_name":"MITF","entity_type":"gene"},{"created":"2022-02-14T11:18:26.217903+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3378","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MITF as Green List (high evidence)","entity_name":"MITF","entity_type":"gene"},{"created":"2022-02-14T11:18:26.207344+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3378","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mitf has been classified as Green List (High Evidence).","entity_name":"MITF","entity_type":"gene"},{"created":"2022-02-14T11:18:07.013207+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3377","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: WDR45: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"WDR45","entity_type":"gene"},{"created":"2022-02-14T11:17:40.697898+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3377","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: WDR45: Rating: RED; Mode of pathogenicity: None; Publications: 30842224, 23176820; Phenotypes: Neurodegeneration with brain iron accumulation 5, MIM# 300894, Rett syndrome, Rett-like phenotypes; Mode of inheritance: None; Current diagnostic: yes","entity_name":"WDR45","entity_type":"gene"},{"created":"2022-02-14T11:16:45.682841+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3377","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MIR17HG as ready","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2022-02-14T11:16:45.659846+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3377","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mir17hg has been classified as Amber List (Moderate Evidence).","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2022-02-14T11:16:41.968998+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3377","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MIR17HG were changed from FEINGOLD SYNDROME to Feingold syndrome 2, MIM #614326","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2022-02-14T11:16:25.235868+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3376","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MIR17HG were set to ","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2022-02-14T11:16:11.993018+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3375","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MIR17HG was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2022-02-14T11:16:01.234203+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3374","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: MIR17HG.","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2022-02-14T11:15:19.500442+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3374","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MANBA as ready","entity_name":"MANBA","entity_type":"gene"},{"created":"2022-02-14T11:15:19.489312+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3374","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: manba has been classified as Red List (Low Evidence).","entity_name":"MANBA","entity_type":"gene"},{"created":"2022-02-14T11:15:15.765332+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3374","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MANBA were changed from LYSOSOMAL BETA-MANNOSIDOSIS to Mannosidosis, beta, MIM# 248510; MONDO:0009562","entity_name":"MANBA","entity_type":"gene"},{"created":"2022-02-14T11:15:03.358892+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3373","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MANBA as Red List (low evidence)","entity_name":"MANBA","entity_type":"gene"},{"created":"2022-02-14T11:15:03.347649+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3373","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: manba has been classified as Red List (Low Evidence).","entity_name":"MANBA","entity_type":"gene"},{"created":"2022-02-14T11:14:48.165113+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3372","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Variable severity. Well established gene-disease association.; to: Well established gene-disease association but clinical presentation is typically post-natal.","entity_name":"MANBA","entity_type":"gene"},{"created":"2022-02-14T11:14:28.761522+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3372","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MANBA: Changed rating: RED","entity_name":"MANBA","entity_type":"gene"},{"created":"2022-02-14T11:11:48.942267+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.40","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32673614; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM173","entity_type":"gene"},{"created":"2022-02-14T10:58:50.723673+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3372","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: SPTBN5: Rating: RED; Mode of pathogenicity: None; Publications: 32732226, 28007035; Phenotypes: Sacral agenesis, congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPTBN5","entity_type":"gene"},{"created":"2022-02-14T10:46:47.850917+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3372","user_name":"Daniel Flanagan","item_type":"entity","text":"changed review comment from: Well-established gene-disease association; over 40 patients with biallelic mutations in SMARCAL1; Zebrafish and mouse models that recapitulates phenotype have been reported.\r\n\r\nThis disorder combines abnormality of the immune and skeletal systems. Primary features include growth retardation (IUGR in 50%), renal failure, cerebral infarcts, skin pigmentation and CID (lymphocytopaenia, recurrent infections and/or T-cell immunodeficiency) beginning in childhood.\r\n\r\nGeneReviews: Short stature (99% of individuals) that typically manifests as a short neck and trunk with lumbar lordosis and a protruding abdomen.; to: Well-established gene-disease association; over 40 patients with biallelic mutations in SMARCAL1; Zebrafish and mouse models that recapitulates phenotype have been reported.\r\n\r\nThis disorder combines abnormality of the immune and skeletal systems. Primary features include growth retardation (IUGR in 50%), renal failure, cerebral infarcts, skin pigmentation and CID (lymphocytopaenia, recurrent infections and/or T-cell immunodeficiency) beginning in childhood.\r\n\r\nGeneReviews: Short stature (99% of individuals) that typically manifests as a short neck and trunk with lumbar lordosis and a protruding abdomen. Most affected children have prenatal and postnatal disproportionate growth failure. A few have normal intrauterine growth followed by postnatal growth failure.","entity_name":"SMARCAL1","entity_type":"gene"},{"created":"2022-02-14T10:21:33.733461+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3372","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: SPTBN2: Rating: RED; Mode of pathogenicity: None; Publications: 23236289, 23838597, 22781464, 31617442, 31066025; Phenotypes: Spinocerebellar ataxia 5 (MIM#600224), Spinocerebellar ataxia, autosomal recessive 14 (MIM#615386); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SPTBN2","entity_type":"gene"},{"created":"2022-02-14T10:15:49.138307+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3372","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15523612, 20301550, 20301550, 17089404, 20036229; Phenotypes: Schimke immunoosseous dysplasia (MIM#242900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SMARCAL1","entity_type":"gene"},{"created":"2022-02-14T10:04:10.631630+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3372","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: SP110: Rating: RED; Mode of pathogenicity: None; Publications: 20301448, 31721003; Phenotypes: Hepatic venoocclusive disease with immunodeficiency (MIM#235550); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SP110","entity_type":"gene"},{"created":"2022-02-14T09:14:49.839762+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3372","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: SLC6A8: Rating: AMBER; Mode of pathogenicity: None; Publications: 11898126, 16738945, 16086185; Phenotypes: Cerebral creatine deficiency syndrome 1 (MIM#300352); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SLC6A8","entity_type":"gene"},{"created":"2022-02-14T08:41:28.950351+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3372","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: SLC52A3: Rating: RED; Mode of pathogenicity: None; Publications: 29053833, 29193829; Phenotypes: Brown-Vialetto-Van Laere syndrome 1 (MIM#211530); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2022-02-13T20:17:59.361752+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3372","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAN1B1 as ready","entity_name":"MAN1B1","entity_type":"gene"},{"created":"2022-02-13T20:17:59.352646+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3372","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: man1b1 has been classified as Red List (Low Evidence).","entity_name":"MAN1B1","entity_type":"gene"},{"created":"2022-02-13T20:17:55.149425+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3372","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAN1B1 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Rafiq syndrome, MIM# 614202","entity_name":"MAN1B1","entity_type":"gene"}]}