{"count":221292,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=682","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=680","results":[{"created":"2022-12-01T14:29:36.019274+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5053","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fem1c has been classified as Green List (High Evidence).","entity_name":"FEM1C","entity_type":"gene"},{"created":"2022-12-01T14:29:25.789446+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5053","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FEM1C as Green List (high evidence)","entity_name":"FEM1C","entity_type":"gene"},{"created":"2022-12-01T14:29:25.772549+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5053","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fem1c has been classified as Green List (High Evidence).","entity_name":"FEM1C","entity_type":"gene"},{"created":"2022-12-01T14:29:22.383524+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.504","user_name":"Paul De Fazio","item_type":"entity","text":"gene: FEM1C was added\ngene: FEM1C was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FEM1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FEM1C were set to 36336956; 28135719; 33398170; 33398168\nPhenotypes for gene: FEM1C were set to Neurodevelopmental disorder, FEM1C-related MONDO:0700092\nReview for gene: FEM1C was set to GREEN\ngene: FEM1C was marked as current diagnostic\nAdded comment: PMID:36336956 describes a 9-year-old boy with severe DD, lack of speech, pyramidal signs, and limb ataxia who had a de novo missense variant Asp126His in FEM1C ascertained by WES. The equivalent variant introduced into the nematode C.elegans resulted in disabled locomotion caused by synaptic abnormalities and not muscle dysfunction.\r\n\r\nAn alternate change Asp126Val was reported in the DDD study de novo in a patient with uncharacterised developmental delay (PMID:28135719).\r\n\r\nThe Asp126 residue (but not either of the variants above specifically) was shown to be functionally important by in vitro studies (PMID:33398170;33398168). The residue is highly conserved and located in a region of missense constraint.\r\n\r\nBorderline green, 2 patients and an animal model. Note all evidence points to the Asp126 residue being of specific importance. \nSources: Literature","entity_name":"FEM1C","entity_type":"gene"},{"created":"2022-12-01T14:29:12.160496+11:00","panel_name":"Periventricular Grey Matter Heterotopia","panel_id":19,"panel_version":"1.1","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: ARF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36345169; Phenotypes: Periventricular nodular heterotopia 8 (MIM#618185); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARF1","entity_type":"gene"},{"created":"2022-12-01T14:27:13.633838+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.504","user_name":"Melanie Marty","item_type":"entity","text":"gene: TCEAL1 was added\ngene: TCEAL1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TCEAL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: TCEAL1 were set to PMID: 36368327\nPhenotypes for gene: TCEAL1 were set to hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features.\nReview for gene: TCEAL1 was set to GREEN\nAdded comment: 7 individuals (males and females) with de novo variants involving TCEAL1. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.\r\n\r\n1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.\r\n\r\n4 PTCs, 2 CNVs, 2 missense reported. \nSources: Literature","entity_name":"TCEAL1","entity_type":"gene"},{"created":"2022-12-01T14:26:38.532351+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.846","user_name":"Chern Lim","item_type":"entity","text":"gene: UQCRH was added\ngene: UQCRH was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: UQCRH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UQCRH were set to 34750991\nPhenotypes for gene: UQCRH were set to Mitochondrial complex III deficiency, nuclear type 11, MIM#620137\nReview for gene: UQCRH was set to AMBER\ngene: UQCRH was marked as current diagnostic\nAdded comment: PMID: 34750991:\r\n-\tTwo affected cousins, presented with recurrent episodes of severe lactic acidosis, hyperammonaemia, hypoglycaemia and encephalopathy.\r\n-\tBoth have a 2.2 kb homozygous deletion of exons 2 and 3 of UQCRH, predicted to culminate in an in-frame deletion exons 2 and 3 of the four-exon UQCRH gene, resulting in a shortened product. \r\n-\tMouse model with the equivalent homozygous Uqcrh deletion (Uqcrh-/-) also presented with lactic acidosis and hyperammonaemia, but had a more severe, non-episodic phenotype, resulting in failure to thrive and early death. \r\n-\tPatient fibroblasts and Uqcrh-/- mouse tissues showed a CIII defect.\r\n-\tExpression of wild-type UQCRH in patient fibroblasts ameliorates the CIII defect. \nSources: Literature","entity_name":"UQCRH","entity_type":"gene"},{"created":"2022-12-01T14:26:13.886815+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5052","user_name":"Paul De Fazio","item_type":"entity","text":"gene: FEM1C was added\ngene: FEM1C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FEM1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FEM1C were set to 36336956; 28135719; 33398170; 33398168\nPhenotypes for gene: FEM1C were set to Neurodevelopmental disorder, FEM1C-related MONDO:0700092\nReview for gene: FEM1C was set to GREEN\ngene: FEM1C was marked as current diagnostic\nAdded comment: PMID:36336956 describes a 9-year-old boy with severe DD, lack of speech, pyramidal signs, and limb ataxia who had a de novo missense variant Asp126His in FEM1C ascertained by WES. The equivalent variant introduced into the nematode C.elegans resulted in disabled locomotion caused by synaptic abnormalities and not muscle dysfunction.\r\n\r\nAn alternate change Asp126Val was reported in the DDD study de novo in a patient with uncharacterised developmental delay (PMID:28135719).\r\n\r\nThe Asp126 residue (but not either of the variants above specifically) was shown to be functionally important by in vitro studies (PMID:33398170;33398168). The residue is highly conserved and located in a region of missense constraint.\r\n\r\nBorderline green, 2 patients and an animal model. Note all evidence points to the Asp126 residue being of specific importance. \nSources: Literature","entity_name":"FEM1C","entity_type":"gene"},{"created":"2022-12-01T14:25:09.468387+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5052","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: KDM2B as Green List (high evidence)","entity_name":"KDM2B","entity_type":"gene"},{"created":"2022-12-01T14:25:09.456396+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5052","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kdm2b has been classified as Green List (High Evidence).","entity_name":"KDM2B","entity_type":"gene"},{"created":"2022-12-01T14:25:06.597620+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5051","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: KDM2B as ready","entity_name":"KDM2B","entity_type":"gene"},{"created":"2022-12-01T14:25:06.576376+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5051","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kdm2b has been classified as Green List (High Evidence).","entity_name":"KDM2B","entity_type":"gene"},{"created":"2022-12-01T14:24:38.661894+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5051","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: KDM2B as Green List (high evidence)","entity_name":"KDM2B","entity_type":"gene"},{"created":"2022-12-01T14:24:38.649859+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5051","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kdm2b has been classified as Green List (High Evidence).","entity_name":"KDM2B","entity_type":"gene"},{"created":"2022-12-01T14:23:56.439752+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5050","user_name":"Ain Roesley","item_type":"entity","text":"gene: KDM2B was added\ngene: KDM2B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: KDM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KDM2B were set to 36322151\nPhenotypes for gene: KDM2B were set to neurodevelopmental disorder MONDO#070009, KDM2B-related\nReview for gene: KDM2B was set to GREEN\ngene: KDM2B was marked as current diagnostic\nAdded comment: 27 individuals from 22 families were recruited \r\n13 SNV classified LP/P, all de novo except 2 familial cases\r\n5 variants were classified as VUS if more than 1 het is present in gnomAD or does result in a KDM2B-specific episignature (therefore suggesting normal function) \nSources: Literature","entity_name":"KDM2B","entity_type":"gene"},{"created":"2022-12-01T14:20:49.098005+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.504","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: 27 individuals from 22 families were recruited \r\n12 SNV classified LP/P, all de novo except 2 familial cases\r\n5 variants were classified as VUS if more than 1 het is present in gnomAD or does result in a KDM2B-specific episignature (therefore suggesting normal function) \nSources: Literature; to: 27 individuals from 22 families were recruited \r\n13 SNV classified LP/P, all de novo except 2 familial cases\r\n5 variants were classified as VUS if more than 1 het is present in gnomAD or does result in a KDM2B-specific episignature (therefore suggesting normal function) \r\nSources: Literature","entity_name":"KDM2B","entity_type":"gene"},{"created":"2022-12-01T14:18:08.685442+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5049","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAN2A2 as ready","entity_name":"MAN2A2","entity_type":"gene"},{"created":"2022-12-01T14:18:08.670028+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5049","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: man2a2 has been classified as Red List (Low Evidence).","entity_name":"MAN2A2","entity_type":"gene"},{"created":"2022-12-01T14:17:59.926427+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5049","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAN2A2 was added\ngene: MAN2A2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MAN2A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAN2A2 were set to 36357165\nPhenotypes for gene: MAN2A2 were set to Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated\nReview for gene: MAN2A2 was set to RED\nAdded comment: Single consanguineous family reported with homozygous truncating variant in two brothers with ID. Supportive biochemical data only \nSources: Literature","entity_name":"MAN2A2","entity_type":"gene"},{"created":"2022-12-01T14:16:32.952497+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.504","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: KDM2B as ready","entity_name":"KDM2B","entity_type":"gene"},{"created":"2022-12-01T14:16:32.939261+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.504","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kdm2b has been classified as Green List (High Evidence).","entity_name":"KDM2B","entity_type":"gene"},{"created":"2022-12-01T14:16:14.652475+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.504","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: KDM2B as Green List (high evidence)","entity_name":"KDM2B","entity_type":"gene"},{"created":"2022-12-01T14:16:14.640573+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.504","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kdm2b has been classified as Green List (High Evidence).","entity_name":"KDM2B","entity_type":"gene"},{"created":"2022-12-01T14:16:13.073410+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.503","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAN2A2 as ready","entity_name":"MAN2A2","entity_type":"gene"},{"created":"2022-12-01T14:16:13.049036+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.503","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: man2a2 has been classified as Red List (Low Evidence).","entity_name":"MAN2A2","entity_type":"gene"},{"created":"2022-12-01T14:16:04.713685+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAN2A2 as ready","entity_name":"MAN2A2","entity_type":"gene"},{"created":"2022-12-01T14:16:04.672146+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: man2a2 has been classified as Red List (Low Evidence).","entity_name":"MAN2A2","entity_type":"gene"},{"created":"2022-12-01T14:15:53.785394+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.503","user_name":"Ain Roesley","item_type":"entity","text":"gene: KDM2B was added\ngene: KDM2B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KDM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KDM2B were set to 36322151\nPhenotypes for gene: KDM2B were set to neurodevelopmental disorder MONDO#070009, KDM2B-related\nReview for gene: KDM2B was set to GREEN\ngene: KDM2B was marked as current diagnostic\nAdded comment: 27 individuals from 22 families were recruited \r\n12 SNV classified LP/P, all de novo except 2 familial cases\r\n5 variants were classified as VUS if more than 1 het is present in gnomAD or does result in a KDM2B-specific episignature (therefore suggesting normal function) \nSources: Literature","entity_name":"KDM2B","entity_type":"gene"},{"created":"2022-12-01T14:15:38.960425+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.502","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAN2A2 was added\ngene: MAN2A2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MAN2A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAN2A2 were set to 36357165\nPhenotypes for gene: MAN2A2 were set to Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated\nReview for gene: MAN2A2 was set to RED\nAdded comment: Single consanguineous family reported with homozygous truncating variant in two brothers with ID. Supportive biochemical data only. \nSources: Literature","entity_name":"MAN2A2","entity_type":"gene"},{"created":"2022-12-01T14:14:25.527659+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAN2A2 was added\ngene: MAN2A2 was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: MAN2A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAN2A2 were set to 36357165\nPhenotypes for gene: MAN2A2 were set to Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated\nReview for gene: MAN2A2 was set to RED\nAdded comment: Single consanguineous family reported with homozygous truncating variant in two brothers with ID. Supportive biochemical data only. \nSources: Literature","entity_name":"MAN2A2","entity_type":"gene"},{"created":"2022-12-01T13:36:55.679035+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5048","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDK10 as ready","entity_name":"CDK10","entity_type":"gene"},{"created":"2022-12-01T13:36:55.664180+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5048","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdk10 has been classified as Green List (High Evidence).","entity_name":"CDK10","entity_type":"gene"},{"created":"2022-12-01T13:36:51.667781+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5048","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDK10 were changed from  to Al Kaissi syndrome MIM#617694","entity_name":"CDK10","entity_type":"gene"},{"created":"2022-12-01T13:36:17.942229+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5047","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDK10 were set to ","entity_name":"CDK10","entity_type":"gene"},{"created":"2022-12-01T13:35:43.443605+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5046","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDK10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDK10","entity_type":"gene"},{"created":"2022-12-01T13:35:04.189826+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5045","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDK10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Al Kaissi syndrome MIM#617694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDK10","entity_type":"gene"},{"created":"2022-12-01T13:34:04.436893+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5045","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXOSC3 as ready","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2022-12-01T13:34:04.418845+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5045","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: exosc3 has been classified as Green List (High Evidence).","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2022-12-01T13:33:59.379546+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5045","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXOSC3 were changed from  to Pontocerebellar hypoplasia, type 1B, MIM# 614678","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2022-12-01T13:33:22.717997+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5044","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EXOSC3 were set to ","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2022-12-01T13:32:44.079788+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5043","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EXOSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2022-12-01T13:32:06.856650+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5042","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1B, MIM# 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2022-12-01T13:30:05.946457+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5042","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARPC4 as ready","entity_name":"ARPC4","entity_type":"gene"},{"created":"2022-12-01T13:30:05.929264+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5042","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arpc4 has been classified as Green List (High Evidence).","entity_name":"ARPC4","entity_type":"gene"},{"created":"2022-12-01T13:30:00.129963+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5042","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARPC4 as Green List (high evidence)","entity_name":"ARPC4","entity_type":"gene"},{"created":"2022-12-01T13:30:00.117573+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5042","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arpc4 has been classified as Green List (High Evidence).","entity_name":"ARPC4","entity_type":"gene"},{"created":"2022-12-01T13:29:24.141918+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5041","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARPC4 was added\ngene: ARPC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARPC4 were set to 35047857\nPhenotypes for gene: ARPC4 were set to Developmental delay, language impairment, and ocular abnormalities, MIM# 620141\nReview for gene: ARPC4 was set to GREEN\nAdded comment: 7 affected individuals from 6 families (gonadal mosaicism was confirmed in the mother of the 2 affected siblings) with a recurrent missense variant (NM_005718.4:c.472C>T; p.R158C). 6/7 affected individuals had microcephaly. The variant was associated with a decreased amount of F-actin in cells from two affected individuals. \nSources: Literature","entity_name":"ARPC4","entity_type":"gene"},{"created":"2022-12-01T13:27:13.824246+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.172","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ARPC4: Changed phenotypes: Developmental delay, language impairment, and ocular abnormalities, MIM# 620141","entity_name":"ARPC4","entity_type":"gene"},{"created":"2022-12-01T13:26:50.084175+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.501","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARPC4 were changed from Neurodevelopmental disorder, ARPC4-related MONDO#0700092 to Developmental delay, language impairment, and ocular abnormalities, MIM# 620141","entity_name":"ARPC4","entity_type":"gene"},{"created":"2022-12-01T13:26:23.927611+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.500","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ARPC4: Changed phenotypes: Developmental delay, language impairment, and ocular abnormalities, MIM# 620141","entity_name":"ARPC4","entity_type":"gene"},{"created":"2022-12-01T13:24:34.220101+11:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MLIP were changed from MLIP-related myopathy with rhabdomyolysis to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138","entity_name":"MLIP","entity_type":"gene"},{"created":"2022-12-01T13:24:05.530772+11:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MLIP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MLIP","entity_type":"gene"},{"created":"2022-12-01T13:21:55.113051+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.500","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MLIP were changed from MLIP-related myopathy with rhabdomyolysis to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138","entity_name":"MLIP","entity_type":"gene"},{"created":"2022-12-01T13:21:27.755887+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.499","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MLIP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MLIP","entity_type":"gene"},{"created":"2022-12-01T12:18:08.618461+11:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"0.1","user_name":"Chirag Patel","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; KidGen; Genetic Health Queensland; Royal Melbourne Hospital","entity_name":null,"entity_type":null},{"created":"2022-12-01T12:06:06.998949+11:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"0.0","user_name":"Chirag Patel","item_type":"panel","text":"Added panel Renal Tubulopathies and related disorders","entity_name":null,"entity_type":null},{"created":"2022-12-01T09:49:55.587398+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.123","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: AGTR1 as Green List (high evidence)","entity_name":"AGTR1","entity_type":"gene"},{"created":"2022-12-01T09:49:55.576833+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.123","user_name":"Chirag Patel","item_type":"entity","text":"Gene: agtr1 has been classified as Green List (High Evidence).","entity_name":"AGTR1","entity_type":"gene"},{"created":"2022-12-01T09:49:29.946355+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.122","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: REN as Green List (high evidence)","entity_name":"REN","entity_type":"gene"},{"created":"2022-12-01T09:49:29.932434+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.122","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ren has been classified as Green List (High Evidence).","entity_name":"REN","entity_type":"gene"},{"created":"2022-12-01T09:49:03.950820+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.122","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: AGTR1 as Green List (high evidence)","entity_name":"AGTR1","entity_type":"gene"},{"created":"2022-12-01T09:49:03.939255+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.122","user_name":"Chirag Patel","item_type":"entity","text":"Gene: agtr1 has been classified as Green List (High Evidence).","entity_name":"AGTR1","entity_type":"gene"},{"created":"2022-12-01T09:48:34.354103+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.121","user_name":"Chirag Patel","item_type":"entity","text":"gene: AGTR1 was added\ngene: AGTR1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert list\nMode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGTR1 were set to PMID: 16116425\nPhenotypes for gene: AGTR1 were set to Renal tubular dysgenesis, MIM# 267430\nReview for gene: AGTR1 was set to GREEN\nAdded comment: Three unrelated families reported.\r\n\r\nAutosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. \nSources: Expert list","entity_name":"AGTR1","entity_type":"gene"},{"created":"2022-12-01T09:47:39.254754+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.120","user_name":"Chirag Patel","item_type":"entity","text":"gene: REN was added\ngene: REN was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert list\nMode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: REN were set to PMID: 16116425\nPhenotypes for gene: REN were set to Renal tubular dysgenesis, MIM# 267430\nReview for gene: REN was set to GREEN\nAdded comment: Well established gene disease association. \r\n\r\nAutosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. \nSources: Expert list","entity_name":"REN","entity_type":"gene"},{"created":"2022-12-01T09:47:17.395149+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.120","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: AGT as Green List (high evidence)","entity_name":"AGT","entity_type":"gene"},{"created":"2022-12-01T09:47:17.380862+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.120","user_name":"Chirag Patel","item_type":"entity","text":"Gene: agt has been classified as Green List (High Evidence).","entity_name":"AGT","entity_type":"gene"},{"created":"2022-12-01T09:46:17.547231+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.119","user_name":"Chirag Patel","item_type":"entity","text":"gene: AGT was added\ngene: AGT was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert list\nMode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGT were set to PMID: 16116425, 34234805, 33163725\nPhenotypes for gene: AGT were set to Renal tubular dysgenesis, MIM# 267430\nReview for gene: AGT was set to GREEN\nAdded comment: Well established gene-disease association, more than 10 unrelated families reported.\r\n\r\nAutosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. \nSources: Expert list","entity_name":"AGT","entity_type":"gene"},{"created":"2022-12-01T09:45:20.647066+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.118","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ACE as Green List (high evidence)","entity_name":"ACE","entity_type":"gene"},{"created":"2022-12-01T09:45:20.635422+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.118","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ace has been classified as Green List (High Evidence).","entity_name":"ACE","entity_type":"gene"},{"created":"2022-12-01T09:44:46.840327+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.117","user_name":"Chirag Patel","item_type":"entity","text":"gene: ACE was added\ngene: ACE was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert list\nMode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACE were set to PMID: 16116425, 22095942\nPhenotypes for gene: ACE were set to Renal tubular dysgenesis, MIM# 267430\nReview for gene: ACE was set to GREEN\nAdded comment: Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. More than 60 families reported. \nSources: Expert list","entity_name":"ACE","entity_type":"gene"},{"created":"2022-12-01T08:46:02.829143+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5040","user_name":"Michelle Dang","item_type":"entity","text":"changed review comment from: Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy with variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods. Intellectual impairment/psychomotor retardation (to varying degrees) reported in all cases across varying degrees of severity (23284067). Zanni et al (23975261) identified 2 individuals with compound heterozygous mutations resulting in intellectual impairment and early onset spasticity. Wan et al (22544365) described global developmental delay in addition to cerebellar features and spinal motor degeneration.; to: Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy with variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods. \r\nIntellectual impairment/psychomotor retardation (to varying degrees) reported in all cases across varying degrees of severity (23284067). Zanni et al (23975261) identified 2 individuals with compound heterozygous mutations resulting in intellectual impairment and early onset spasticity. Wan et al (22544365) described global developmental delay in addition to cerebellar features and spinal motor degeneration, with functional effects of the mutation reproduced with knocked down endogenous expression of exosc3 in zebrafish embryos and subsequent rescue of the phenotype by co-injection with wild-type zebrafish exosc3 mRNA.","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2022-12-01T08:40:09.948394+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5040","user_name":"Michelle Dang","item_type":"entity","text":"changed review comment from: Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy with variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods. Intellectual impairment/psychomotor retardation (to varying degrees) reported in all cases across various severity (23284067). Zanni et al (23975261) identified 2 individuals with compound heterozygous mutations resulting in intellectual impairment and early onset spasticity. Wan et al (22544365) described global developmental delay in addition to cerebellar features and spinal motor degeneration.; to: Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy with variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods. Intellectual impairment/psychomotor retardation (to varying degrees) reported in all cases across varying degrees of severity (23284067). Zanni et al (23975261) identified 2 individuals with compound heterozygous mutations resulting in intellectual impairment and early onset spasticity. Wan et al (22544365) described global developmental delay in addition to cerebellar features and spinal motor degeneration.","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2022-12-01T08:38:24.632558+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5040","user_name":"Michelle Dang","item_type":"entity","text":"Deleted their comment","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2022-12-01T08:38:05.856956+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5040","user_name":"Michelle Dang","item_type":"entity","text":"edited their review of gene: EXOSC3: Added comment: Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy with variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods. Intellectual impairment/psychomotor retardation (to varying degrees) reported in all cases across various severity (23284067). Zanni et al (23975261) identified 2 individuals with compound heterozygous mutations resulting in intellectual impairment and early onset spasticity. Wan et al (22544365) described global developmental delay in addition to cerebellar features and spinal motor degeneration.; Changed phenotypes: Cerebellar atrophy, Developmental delay, Lower motor neuron degeneration, Upper motor neuron features, Spasticity/hyperreflexia (+/-)","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2022-12-01T08:36:18.663881+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5040","user_name":"Michelle Dang","item_type":"entity","text":"changed review comment from: Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy. Variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods. Intellectual impairment (to varying degrees) reported in all cases across various severity.; to: Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy with variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods. Intellectual impairment/psychomotor retardation (to varying degrees) reported in all cases across various severity (23284067). Zanni et al (23975261) identified 2 individuals with compound heterozygous mutations resulting in intellectual impairment and early onset spasticity. Wan et al (22544365) described global developmental delay in addition to cerebellar features and spinal motor degeneration.","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2022-12-01T08:26:02.461062+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5040","user_name":"Michelle Dang","item_type":"entity","text":"reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 23975261, 25149867, 23284067; Phenotypes: 23284067, 25149867; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2022-12-01T07:57:16.326937+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.57","user_name":"Michelle Dang","item_type":"entity","text":"reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 23975261, 25149867, 24524299; Phenotypes: 24524299, 23284067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2022-11-30T17:19:56.217696+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5040","user_name":"Lyndon Gallacher","item_type":"entity","text":"reviewed gene: CDK10: Rating: ; Mode of pathogenicity: None; Publications: 28886341; Phenotypes: Severe growth retardation, spine malformation, facial dysmorphisms, developmental delay, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDK10","entity_type":"gene"},{"created":"2022-11-30T16:57:25.707184+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1154","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC25A19 as ready","entity_name":"SLC25A19","entity_type":"gene"},{"created":"2022-11-30T16:57:25.696141+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1154","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a19 has been classified as Green List (High Evidence).","entity_name":"SLC25A19","entity_type":"gene"},{"created":"2022-11-30T16:57:18.191676+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1154","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC25A19 as Green List (high evidence)","entity_name":"SLC25A19","entity_type":"gene"},{"created":"2022-11-30T16:57:18.176019+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1154","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a19 has been classified as Green List (High Evidence).","entity_name":"SLC25A19","entity_type":"gene"},{"created":"2022-11-30T16:57:04.311310+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1153","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: SLC25A19.\nTag treatable tag was added to gene: SLC25A19.\nTag metabolic tag was added to gene: SLC25A19.","entity_name":"SLC25A19","entity_type":"gene"},{"created":"2022-11-30T16:56:32.966964+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1153","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC25A19","entity_type":"gene"},{"created":"2022-11-30T16:52:45.906594+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1153","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: SLC18A2.\nTag treatable tag was added to gene: SLC18A2.\nTag neurological tag was added to gene: SLC18A2.","entity_name":"SLC18A2","entity_type":"gene"},{"created":"2022-11-30T16:49:33.544473+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1153","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC25A13 were set to ","entity_name":"SLC25A13","entity_type":"gene"},{"created":"2022-11-30T16:49:20.707700+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1152","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC25A13 as Green List (high evidence)","entity_name":"SLC25A13","entity_type":"gene"},{"created":"2022-11-30T16:49:20.696468+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1152","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a13 has been classified as Green List (High Evidence).","entity_name":"SLC25A13","entity_type":"gene"},{"created":"2022-11-30T16:49:03.423223+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1151","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinemia, type II, neonatal-onset, MIM# 605814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC25A13","entity_type":"gene"},{"created":"2022-11-30T16:46:09.591103+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1151","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: SLC25A13.","entity_name":"SLC25A13","entity_type":"gene"},{"created":"2022-11-30T16:43:53.253708+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1151","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: TSHR.\nTag treatable tag was added to gene: TSHR.\nTag endocrine tag was added to gene: TSHR.","entity_name":"TSHR","entity_type":"gene"},{"created":"2022-11-30T16:43:37.460606+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1151","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TSHR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TSHR","entity_type":"gene"},{"created":"2022-11-30T16:41:25.503220+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1151","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: COL11A1.\nTag ophthalmological tag was added to gene: COL11A1.","entity_name":"COL11A1","entity_type":"gene"},{"created":"2022-11-30T16:41:01.924376+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1151","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Mono-allelic variants in this gene cause Stickler syndrome, as well as isolated post-lingual deafness, and the rare Marshall syndrome.\r\n\r\nThere is some genotype-phenotype correlation.\r\n\r\nTreatment: ocular surveillance and surgery to prevent retinal detachment\r\n\r\nFor review; to: Mono-allelic variants in this gene cause Stickler syndrome, as well as isolated post-lingual deafness, and the rare Marshall syndrome.\r\n\r\nThere is some genotype-phenotype correlation.\r\n\r\nTreatment: ocular surveillance and surgery to prevent retinal detachment. Usually after age 2-3 years.\r\n\r\nDiscussed with ophthalmology: would start glaucoma surveillance in first year of life.","entity_name":"COL11A1","entity_type":"gene"},{"created":"2022-11-30T16:39:43.324027+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1151","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Variants in this gene are associated with a range of skeletal phenotypes.\r\n\r\nOnset and severity can be variable.\r\n\r\nTreatment: surveillance and prophylactic retinal laser treatment to prevent retinal detachment.\r\n\r\nFor review.; to: Variants in this gene are associated with a range of skeletal phenotypes.\r\n\r\nOnset and severity can be variable.\r\n\r\nTreatment: surveillance and prophylactic retinal laser treatment to prevent retinal detachment. This is usually after the age of 2-3 years.\r\n\r\nDiscussed with ophthalmology, would start glaucoma surveillance in the first year of life.","entity_name":"COL2A1","entity_type":"gene"},{"created":"2022-11-30T16:32:38.253884+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1151","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC25A15 as ready","entity_name":"SLC25A15","entity_type":"gene"},{"created":"2022-11-30T16:32:38.235890+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1151","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc25a15 has been classified as Green List (High Evidence).","entity_name":"SLC25A15","entity_type":"gene"},{"created":"2022-11-30T16:31:40.410038+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1151","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SLC25A15 were set to ","entity_name":"SLC25A15","entity_type":"gene"},{"created":"2022-11-30T16:31:16.024554+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1150","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC25A15: Rating: ; Mode of pathogenicity: None; Publications: 22649802; Phenotypes: Hyperornithinaemia-hyperammonaemia-homocitrullinaemia syndrome , MIM#238970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC25A15","entity_type":"gene"},{"created":"2022-11-30T16:14:40.747952+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1150","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC25A13 as ready","entity_name":"SLC25A13","entity_type":"gene"}]}