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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=769",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=767",
"results": [
{
"created": "2022-09-19T07:22:05.713323+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is CBLIF.",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:22:05.683892+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gif has been classified as Green List (High Evidence).",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:21:36.381349+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: GIF.",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2022-09-18T19:09:30.796586+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPA as ready",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2022-09-18T19:09:30.789098+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpa has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2022-09-18T19:08:46.382486+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTPA as Amber List (moderate evidence)",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2022-09-18T19:08:46.374005+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpa has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2022-09-18T19:08:07.188611+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTPA was added\ngene: PTPA was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: PTPA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTPA were set to 36073231\nPhenotypes for gene: PTPA were set to Intellectual disability, MONDO: 36073231, PTPA-related; Parkisonism\nReview for gene: PTPA was set to AMBER\nAdded comment: Biallelic PTPA pathogenic variants lead to a form of ID with later-onset parkinsonism based on 4 individuals from 2 families in the literature. Affected individuals were homozygous for missense variants demonstrated to result to reduced mRNA and protein levels as well as PP2A complex activation. Drosophila studies support an age-dependent locomotor dysfunction. Variants in other PP2A-complex-related genes also lead to NDDs. Summary provided below.\r\n\r\nThere is currently no associated phenotype in OMIM, G2P, PanelApp UK or SysID.\r\n\r\nConsider inclusion in relevant panels (ID, Parkinsonism/movement disorders, etc) with amber rating pending further reports.\r\n\r\n------ \r\n\r\nFevga, Tesson et al (2022 - PMID: 36073231) describe the features of 4 individuals, from 2 unrelated families, with biallelic pathogenic PTPA variants.\r\n\r\nThese presented with normal or delayed early milestones, learning disability and ID (mild to moderate) followed by progressive signs of parkinsonism (at the age of 11 yrs in 2 sibs, 15 yrs in another individual). Motor symptoms were responsive to levodopa and later to deep brain stimulation.\r\n\r\nLinkage analysis in one consanguineous family followed by exome revealed homozygosity for a missense PTPA variant (NM_178001:c.893T>G/p.Met298Arg). Exome sequencing in affected subjects from the 2nd family revealed homozygosity for a further missense variant (c.512C>A/p.Ala171Asp). There were no other candidate variants for the phenotype following parental / segregation studies.\r\n\r\nRole of the gene: \r\nAs the authors discuss, PTPA (or PPP2R4) is ubiquitously expressed in all tissues incl. brain and encodes a phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase-2A (PP2A). PP2A in turn, is the major Ser/Thr phosphatase in brain targeting a large number of proteins involved in diverse functions. Activation of PP2A is dependent on its methylation, which is negatively regulated by the PP2A-specific methylesterase (PME-1). By binding to PME-1, PTPA counteracts the negative influence of the former on PP2A. Pathogenic variants in genes encoding subunits/regulators of the PP2A complex (e.g. PPP2R1A or PPP2CA) are associated with neurodevelopmental disorders. \r\n\r\nVariant studies:\r\nUpon overexpression of wt and both variants in a HEK-293 cell line the authors demonstrated that both variants resulted in significantly reduced mRNA and protein levels (which for Ala171Asp were attributed to increased proteasomal degradation). Both variants were shown to result in impaired PP2A complex activation compared to wt.\r\n\r\nDrosophila / animal models:\r\nPan-neuronal RNAi-mediated knockdown of ptpa in Drosophila resulted in an age-dependent locomotor dysfunction, reversible with L-DOPA treatment.\r\nPrevious studies in mice suggest cognitive/electrophysiological impairments upon downregulation of PP2A activity in transgenic mice. \nSources: Literature",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2022-09-18T19:06:29.636701+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPA as ready",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2022-09-18T19:06:29.628114+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpa has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2022-09-18T19:06:19.172673+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTPA as Amber List (moderate evidence)",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2022-09-18T19:06:19.163616+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpa has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2022-09-18T19:05:59.705763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTPA was added\ngene: PTPA was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PTPA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTPA were set to 36073231\nPhenotypes for gene: PTPA were set to Intellectual disability, MONDO: 36073231, PTPA-related\nReview for gene: PTPA was set to AMBER\nAdded comment: Biallelic PTPA pathogenic variants lead to a form of ID with later-onset parkinsonism based on 4 individuals from 2 families in the literature. Affected individuals were homozygous for missense variants demonstrated to result to reduced mRNA and protein levels as well as PP2A complex activation. Drosophila studies support an age-dependent locomotor dysfunction. Variants in other PP2A-complex-related genes also lead to NDDs. Summary provided below.\r\n\r\nThere is currently no associated phenotype in OMIM, G2P, PanelApp UK or SysID.\r\n\r\nConsider inclusion in relevant panels (ID, Parkinsonism/movement disorders, etc) with amber rating pending further reports.\r\n\r\n------ \r\n\r\nFevga, Tesson et al (2022 - PMID: 36073231) describe the features of 4 individuals, from 2 unrelated families, with biallelic pathogenic PTPA variants.\r\n\r\nThese presented with normal or delayed early milestones, learning disability and ID (mild to moderate) followed by progressive signs of parkinsonism (at the age of 11 yrs in 2 sibs, 15 yrs in another individual). Motor symptoms were responsive to levodopa and later to deep brain stimulation.\r\n\r\nLinkage analysis in one consanguineous family followed by exome revealed homozygosity for a missense PTPA variant (NM_178001:c.893T>G/p.Met298Arg). Exome sequencing in affected subjects from the 2nd family revealed homozygosity for a further missense variant (c.512C>A/p.Ala171Asp). There were no other candidate variants for the phenotype following parental / segregation studies.\r\n\r\nRole of the gene: \r\nAs the authors discuss, PTPA (or PPP2R4) is ubiquitously expressed in all tissues incl. brain and encodes a phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase-2A (PP2A). PP2A in turn, is the major Ser/Thr phosphatase in brain targeting a large number of proteins involved in diverse functions. Activation of PP2A is dependent on its methylation, which is negatively regulated by the PP2A-specific methylesterase (PME-1). By binding to PME-1, PTPA counteracts the negative influence of the former on PP2A. Pathogenic variants in genes encoding subunits/regulators of the PP2A complex (e.g. PPP2R1A or PPP2CA) are associated with neurodevelopmental disorders. \r\n\r\nVariant studies:\r\nUpon overexpression of wt and both variants in a HEK-293 cell line the authors demonstrated that both variants resulted in significantly reduced mRNA and protein levels (which for Ala171Asp were attributed to increased proteasomal degradation). Both variants were shown to result in impaired PP2A complex activation compared to wt.\r\n\r\nDrosophila / animal models:\r\nPan-neuronal RNAi-mediated knockdown of ptpa in Drosophila resulted in an age-dependent locomotor dysfunction, reversible with L-DOPA treatment.\r\nPrevious studies in mice suggest cognitive/electrophysiological impairments upon downregulation of PP2A activity in transgenic mice. \nSources: Literature",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2022-09-18T19:05:37.749637+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPA as ready",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2022-09-18T19:05:37.737594+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpa has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2022-09-18T19:05:00.533116+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTPA as Amber List (moderate evidence)",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2022-09-18T19:05:00.524767+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpa has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2022-09-18T19:03:50.689970+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTPA as Amber List (moderate evidence)",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2022-09-18T19:03:50.679626+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpa has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2022-09-17T21:02:42.957214+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMPER as ready",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2022-09-17T21:02:42.948984+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmper has been classified as Green List (High Evidence).",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2022-09-17T21:02:32.586123+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMPER were changed from to Diaphanospondylodysostosis, MIM#608022",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2022-09-17T21:02:08.277427+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMPER were set to ",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2022-09-17T19:27:02.559608+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4939",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "changed review comment from: Biallelic PTPA pathogenic variants lead to a form of ID with later-onset parkinsonism based on 4 individuals from 2 families in the literature. Affected individuals were homozygous for missense variants demonstrated to result to reduced mRNA and protein levels as well as PP2A complex activation. Drosophila studies support an age-dependent locomotor dysfunction. Variants in other PP2A-complex-related genes also lead to NDDs. Summary provided below.\r\n\r\nThere is currently no associated phenotype in OMIM, G2P, PanelApp Australia or SysID.\r\n\r\nConsider inclusion in relevant panels (ID, Parkinsonism/movement disorders, etc) with amber rating pending further reports.\r\n\r\n------ \r\n\r\nFevga, Tesson et al (2022 - PMID: 36073231) describe the features of 4 individuals, from 2 unrelated families, with biallelic pathogenic PTPA variants.\r\n\r\nThese presented with normal or delayed early milestones, learning disability and ID (mild to moderate) followed by progressive signs of parkinsonism (at the age of 11 yrs in 2 sibs, 15 yrs in another individual). Motor symptoms were responsive to levodopa and later to deep brain stimulation.\r\n\r\nLinkage analysis in one consanguineous family followed by exome revealed homozygosity for a missense PTPA variant (NM_178001:c.893T>G/p.Met298Arg). Exome sequencing in affected subjects from the 2nd family revealed homozygosity for a further missense variant (c.512C>A/p.Ala171Asp). There were no other candidate variants for the phenotype following parental / segregation studies.\r\n\r\nRole of the gene: \r\nAs the authors discuss, PTPA (or PPP2R4) is ubiquitously expressed in all tissues incl. brain and encodes a phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase-2A (PP2A). PP2A in turn, is the major Ser/Thr phosphatase in brain targeting a large number of proteins involved in diverse functions. Activation of PP2A is dependent on its methylation, which is negatively regulated by the PP2A-specific methylesterase (PME-1). By binding to PME-1, PTPA counteracts the negative influence of the former on PP2A. Pathogenic variants in genes encoding subunits/regulators of the PP2A complex (e.g. PPP2R1A or PPP2CA) are associated with neurodevelopmental disorders. \r\n\r\nVariant studies:\r\nUpon overexpression of wt and both variants in a HEK-293 cell line the authors demonstrated that both variants resulted in significantly reduced mRNA and protein levels (which for Ala171Asp were attributed to increased proteasomal degradation). Both variants were shown to result in impaired PP2A complex activation compared to wt.\r\n\r\nDrosophila / animal models:\r\nPan-neuronal RNAi-mediated knockdown of ptpa in Drosophila resulted in an age-dependent locomotor dysfunction, reversible with L-DOPA treatment.\r\nPrevious studies in mice suggest cognitive/electrophysiological impairments upon downregulation of PP2A activity in transgenic mice. \nSources: Literature; to: Biallelic PTPA pathogenic variants lead to a form of ID with later-onset parkinsonism based on 4 individuals from 2 families in the literature. Affected individuals were homozygous for missense variants demonstrated to result to reduced mRNA and protein levels as well as PP2A complex activation. Drosophila studies support an age-dependent locomotor dysfunction. Variants in other PP2A-complex-related genes also lead to NDDs. Summary provided below.\r\n\r\nThere is currently no associated phenotype in OMIM, G2P, PanelApp UK or SysID.\r\n\r\nConsider inclusion in relevant panels (ID, Parkinsonism/movement disorders, etc) with amber rating pending further reports.\r\n\r\n------ \r\n\r\nFevga, Tesson et al (2022 - PMID: 36073231) describe the features of 4 individuals, from 2 unrelated families, with biallelic pathogenic PTPA variants.\r\n\r\nThese presented with normal or delayed early milestones, learning disability and ID (mild to moderate) followed by progressive signs of parkinsonism (at the age of 11 yrs in 2 sibs, 15 yrs in another individual). Motor symptoms were responsive to levodopa and later to deep brain stimulation.\r\n\r\nLinkage analysis in one consanguineous family followed by exome revealed homozygosity for a missense PTPA variant (NM_178001:c.893T>G/p.Met298Arg). Exome sequencing in affected subjects from the 2nd family revealed homozygosity for a further missense variant (c.512C>A/p.Ala171Asp). There were no other candidate variants for the phenotype following parental / segregation studies.\r\n\r\nRole of the gene: \r\nAs the authors discuss, PTPA (or PPP2R4) is ubiquitously expressed in all tissues incl. brain and encodes a phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase-2A (PP2A). PP2A in turn, is the major Ser/Thr phosphatase in brain targeting a large number of proteins involved in diverse functions. Activation of PP2A is dependent on its methylation, which is negatively regulated by the PP2A-specific methylesterase (PME-1). By binding to PME-1, PTPA counteracts the negative influence of the former on PP2A. Pathogenic variants in genes encoding subunits/regulators of the PP2A complex (e.g. PPP2R1A or PPP2CA) are associated with neurodevelopmental disorders. \r\n\r\nVariant studies:\r\nUpon overexpression of wt and both variants in a HEK-293 cell line the authors demonstrated that both variants resulted in significantly reduced mRNA and protein levels (which for Ala171Asp were attributed to increased proteasomal degradation). Both variants were shown to result in impaired PP2A complex activation compared to wt.\r\n\r\nDrosophila / animal models:\r\nPan-neuronal RNAi-mediated knockdown of ptpa in Drosophila resulted in an age-dependent locomotor dysfunction, reversible with L-DOPA treatment.\r\nPrevious studies in mice suggest cognitive/electrophysiological impairments upon downregulation of PP2A activity in transgenic mice. \r\nSources: Literature",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2022-09-17T19:26:29.704947+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4939",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "gene: PTPA was added\ngene: PTPA was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PTPA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTPA were set to 36073231\nPhenotypes for gene: PTPA were set to Intellectual disability; Parkinsonism\nPenetrance for gene: PTPA were set to Complete\nReview for gene: PTPA was set to AMBER\nAdded comment: Biallelic PTPA pathogenic variants lead to a form of ID with later-onset parkinsonism based on 4 individuals from 2 families in the literature. Affected individuals were homozygous for missense variants demonstrated to result to reduced mRNA and protein levels as well as PP2A complex activation. Drosophila studies support an age-dependent locomotor dysfunction. Variants in other PP2A-complex-related genes also lead to NDDs. Summary provided below.\r\n\r\nThere is currently no associated phenotype in OMIM, G2P, PanelApp Australia or SysID.\r\n\r\nConsider inclusion in relevant panels (ID, Parkinsonism/movement disorders, etc) with amber rating pending further reports.\r\n\r\n------ \r\n\r\nFevga, Tesson et al (2022 - PMID: 36073231) describe the features of 4 individuals, from 2 unrelated families, with biallelic pathogenic PTPA variants.\r\n\r\nThese presented with normal or delayed early milestones, learning disability and ID (mild to moderate) followed by progressive signs of parkinsonism (at the age of 11 yrs in 2 sibs, 15 yrs in another individual). Motor symptoms were responsive to levodopa and later to deep brain stimulation.\r\n\r\nLinkage analysis in one consanguineous family followed by exome revealed homozygosity for a missense PTPA variant (NM_178001:c.893T>G/p.Met298Arg). Exome sequencing in affected subjects from the 2nd family revealed homozygosity for a further missense variant (c.512C>A/p.Ala171Asp). There were no other candidate variants for the phenotype following parental / segregation studies.\r\n\r\nRole of the gene: \r\nAs the authors discuss, PTPA (or PPP2R4) is ubiquitously expressed in all tissues incl. brain and encodes a phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase-2A (PP2A). PP2A in turn, is the major Ser/Thr phosphatase in brain targeting a large number of proteins involved in diverse functions. Activation of PP2A is dependent on its methylation, which is negatively regulated by the PP2A-specific methylesterase (PME-1). By binding to PME-1, PTPA counteracts the negative influence of the former on PP2A. Pathogenic variants in genes encoding subunits/regulators of the PP2A complex (e.g. PPP2R1A or PPP2CA) are associated with neurodevelopmental disorders. \r\n\r\nVariant studies:\r\nUpon overexpression of wt and both variants in a HEK-293 cell line the authors demonstrated that both variants resulted in significantly reduced mRNA and protein levels (which for Ala171Asp were attributed to increased proteasomal degradation). Both variants were shown to result in impaired PP2A complex activation compared to wt.\r\n\r\nDrosophila / animal models:\r\nPan-neuronal RNAi-mediated knockdown of ptpa in Drosophila resulted in an age-dependent locomotor dysfunction, reversible with L-DOPA treatment.\r\nPrevious studies in mice suggest cognitive/electrophysiological impairments upon downregulation of PP2A activity in transgenic mice. \nSources: Literature",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2022-09-17T13:56:25.503218+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKHD1 were changed from Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200; Nephrocalcinosis, MONDO:0001567, PKHD1-related",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2022-09-17T13:55:58.939612+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PKHD1 were set to ",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2022-09-17T13:55:37.650554+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKHD1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2022-09-17T13:55:18.367823+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PKHD1: Added comment: Notę heterozygous carriers reported to have liver cysts and nephrocalcinosis, gene-disease association considered MODERATE by ClinGen.; Changed publications: 28375157, 21945273; Changed phenotypes: Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200, Nephrocalcinosis, MONDO:0001567, PKHD1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2022-09-17T12:22:19.913027+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP2R5C were changed from macrocephaly; intellectual disability to Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); macrocephaly; intellectual disability",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2022-09-17T12:21:57.339015+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP2R5C were set to ",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2022-09-17T12:21:35.972817+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP2R5C as Green List (high evidence)",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2022-09-17T12:21:35.964097+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r5c has been classified as Green List (High Evidence).",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2022-09-17T12:21:06.320729+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP2R5C were changed from macrocephaly; intellectual disability to Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); macrocephaly; intellectual disability",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2022-09-17T12:20:32.465119+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP2R5C were set to ",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2022-09-17T12:20:06.327504+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP2R5C as Green List (high evidence)",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2022-09-17T12:20:06.314877+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r5c has been classified as Green List (High Evidence).",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2022-09-17T12:19:33.475859+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP2R5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 25972378; Phenotypes: Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:27:57.031915+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP2R5C were changed from macrocephaly; intellectual disability to Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); macrocephaly; intellectual disability",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:27:24.015858+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP2R5C were set to ",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:26:48.890883+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP2R5C as Green List (high evidence)",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:26:48.881101+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r5c has been classified as Green List (High Evidence).",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:25:58.727768+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BMPER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:24:39.720105+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MMP9 as Green List (high evidence)",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:24:39.707255+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmp9 has been classified as Green List (High Evidence).",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:24:07.075887+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Relatively mild skeletal dysplasia, unsure if it would be apparent antenatally.; to: Relatively mild skeletal dysplasia, limited reports. However, at least one case report of antenatal presentation, PMID 36035187.",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:23:35.254831+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MMP9: Changed rating: GREEN; Changed publications: 36035187",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:23:15.240658+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMP1 as ready",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:23:15.223124+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp1 has been classified as Green List (High Evidence).",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:22:40.696646+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMP1 were changed from to Osteogenesis imperfecta, type XIII , MIM#614856",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:22:10.497057+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMP1 were set to ",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:21:44.859654+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:21:06.625072+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association. Note HGNC approved name is ARSL.; to: Well established gene-disease association. Note HGNC approved name is ARSL.\r\n\r\nCan present antenatally.",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:19:24.607935+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Severe forms of hypophosphatasia (perinatal and infantile) are generally associated with autosomal recessive disease, while the milder forms of hypophosphatasia (childhood, adult and odonto) have been associated with both autosomal dominant and recessive disease (PMID: 19500388, 23688511). Loss of function and dominant negative have both been reported as mechanisms of disease for this gene (ClinVar, PMID: 19500388).; to: Severe forms of hypophosphatasia (perinatal and infantile) are generally associated with autosomal recessive disease, while the milder forms of hypophosphatasia (childhood, adult and odonto) have been associated with both autosomal dominant and recessive disease (PMID: 19500388, 23688511). Loss of function and dominant negative have both been reported as mechanisms of disease for this gene (ClinVar, PMID: 19500388).\r\n\r\nThe severe infantile form is perinatal lethal.",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:18:09.346351+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGPS as ready",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:18:09.334197+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agps has been classified as Green List (High Evidence).",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:17:49.308986+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGPS were changed from to Rhizomelic chondrodysplasia punctata, type 3, MIM#600121",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:16:05.265151+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AGPS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:14:50.489339+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MMP13 were changed from Metaphyseal anadysplasia 1 (MIM#602111); Metaphyseal dysplasia, Spahr type (MIM#250400) to Metaphyseal anadysplasia 1 (MIM#602111)",
"entity_name": "MMP13",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:14:29.506154+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MMP13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MMP13",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:13:49.011685+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MMP13 as Red List (low evidence)",
"entity_name": "MMP13",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:13:48.999154+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmp13 has been classified as Red List (Low Evidence).",
"entity_name": "MMP13",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:13:16.881550+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MMP13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Metaphyseal anadysplasia 1, MIM# 602111; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MMP13",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:09:22.787261+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPDU1 as ready",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:09:22.779327+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpdu1 has been classified as Green List (High Evidence).",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:09:12.523666+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPDU1 were changed from Congenital disorder of glycosylation, type If 609180 to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:08:46.447878+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MPDU1 were set to ",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:08:10.946548+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 5 unrelated families reported. Prominent ichthyosis reported in some, in addition to neurological features including DD/ID, seizures, hypotonia. Some reported with features overlapping dystroglycanopathy, including raised CK.; to: More than 5 unrelated families reported. Prominent ichthyosis reported in some, in addition to neurological features including DD/ID, seizures, hypotonia. Some reported with features overlapping dystroglycanopathy, including raised CK.\r\n\r\nListed in the skeletal nosology paper as a condition resembling storage diseases, occasional reports of severe short stature.",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:05:19.476549+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MNX1 as ready",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:05:19.467811+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mnx1 has been classified as Green List (High Evidence).",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:05:06.175753+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MNX1 as Green List (high evidence)",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:05:06.163384+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mnx1 has been classified as Green List (High Evidence).",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:04:34.954212+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MNX1 was added\ngene: MNX1 was added to Skeletal Dysplasia_Fetal. Sources: Expert Review\nMode of inheritance for gene: MNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MNX1 were set to 32571425; 33836786; 11528505\nPhenotypes for gene: MNX1 were set to Currarino syndrome, MIM# 176450\nReview for gene: MNX1 was set to GREEN\nAdded comment: Well established gene-disease association. Sacral agenesis and associated abnormalities can be evident on antenatal ultrasound. \nSources: Expert Review",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:02:03.198581+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMP9 as ready",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:02:03.188217+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmp9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:02:00.640814+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MMP9 were changed from to Metaphyseal anadysplasia 2 - MIM# 613073",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:01:26.537068+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MMP9 were set to ",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:00:55.398059+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MMP9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:00:32.847179+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MMP9 as Amber List (moderate evidence)",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2022-09-16T17:00:32.835355+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmp9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2022-09-16T16:58:29.596286+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4936",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: PPP2R5C: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25972378; Phenotypes: Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2022-09-16T16:57:57.266360+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMP13 as ready",
"entity_name": "MMP13",
"entity_type": "gene"
},
{
"created": "2022-09-16T16:57:57.250513+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmp13 has been classified as Green List (High Evidence).",
"entity_name": "MMP13",
"entity_type": "gene"
},
{
"created": "2022-09-16T16:57:54.169331+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MMP13 were changed from to Metaphyseal anadysplasia 1 (MIM#602111); Metaphyseal dysplasia, Spahr type (MIM#250400)",
"entity_name": "MMP13",
"entity_type": "gene"
},
{
"created": "2022-09-16T16:57:24.404192+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.325",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "changed review comment from: - ClinVar: two de novo missense variants (p.E177K and p.H188R), one has been reported for intellectual disability\r\n\r\n- PMID 25972378: inframe del (T157del) found in a de novo individual with ID, facial asymmetry, conductive HL, overgrowth\r\n\r\n- VCGS proband: additional de novo missense variant (p.K299E) found in one individual with syndromic intellectual disability; to: - ClinVar: two de novo missense variants (p.E177K and p.H188R), one has been reported for intellectual disability\r\n\r\n- PMID 25972378: inframe del (T157del) found in a de novo individual with ID, facial asymmetry, conductive HL, overgrowth\r\n\r\n- VCGS proband: additional de novo missense variant (p.K299E) found in one individual with syndromic intellectual disability\r\n",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2022-09-16T16:57:17.884709+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MMP13 were set to ",
"entity_name": "MMP13",
"entity_type": "gene"
},
{
"created": "2022-09-16T16:56:58.528010+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.325",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: PPP2R5C: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25972378; Phenotypes: Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2022-09-16T16:56:51.457796+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MMP13 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MMP13",
"entity_type": "gene"
},
{
"created": "2022-09-16T16:47:53.855208+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MESP2 as ready",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2022-09-16T16:47:53.845812+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mesp2 has been classified as Green List (High Evidence).",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2022-09-16T16:47:51.081999+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MESP2 were changed from to Spondylocostal dysostosis 2, autosomal recessive (MIM#608681)",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2022-09-16T16:47:19.768269+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MESP2 were set to ",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2022-09-16T16:46:56.247615+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MESP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2022-09-16T07:39:50.397056+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1C as ready",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-09-16T07:39:50.388641+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1c has been classified as Green List (High Evidence).",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-09-16T07:39:44.976198+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1C were changed from to Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-09-16T07:39:07.942839+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-09-16T07:38:58.299051+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1C were changed from Neurodevelopmental abnormalities and epilepsy, no OMIM# to Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM#\t620029",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-09-16T07:38:08.819551+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CACNA1C: Changed phenotypes: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-09-15T16:04:47.911960+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "1.4",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "commented on gene: PKHD1",
"entity_name": "PKHD1",
"entity_type": "gene"
}
]
}