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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1237",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1235",
"results": [
{
"created": "2021-08-16T10:18:07.152934+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FRDA was added\nSTR: FRDA was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: FRDA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: FRDA were set to 20301458\nPhenotypes for STR: FRDA were set to Friedreich ataxia MIM#229300\nReview for STR: FRDA was set to GREEN\nSTR: FRDA was marked as clinically relevant\nAdded comment: NM_000144.4:c.165+1340GAA[X]\r\nLoss of function is the mechanism of disease\r\nNormal: 5-33 repeats\r\nMutable normal (premutation): 34-65 repeats\r\nBorderline: 44-66 repeats\r\nFull-penetrance: ≥66 repeats \nSources: Expert list",
"entity_name": "FRDA",
"entity_type": "str"
},
{
"created": "2021-08-16T09:55:57.028343+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: FRAXE as ready",
"entity_name": "FRAXE",
"entity_type": "str"
},
{
"created": "2021-08-16T09:55:57.017752+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: fraxe has been classified as Green List (High Evidence).",
"entity_name": "FRAXE",
"entity_type": "str"
},
{
"created": "2021-08-16T09:55:53.668989+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: FRAXE as Green List (high evidence)",
"entity_name": "FRAXE",
"entity_type": "str"
},
{
"created": "2021-08-16T09:55:53.659819+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: fraxe has been classified as Green List (High Evidence).",
"entity_name": "FRAXE",
"entity_type": "str"
},
{
"created": "2021-08-16T09:55:13.506086+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FRAXE was added\nSTR: FRAXE was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: FRAXE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: FRAXE were set to 8334699; 8673085; 11388762\nPhenotypes for STR: FRAXE were set to Intellectual developmental disorder, X-linked 109 MIM#309548\nReview for STR: FRAXE was set to GREEN\nSTR: FRAXE was marked as clinically relevant\nAdded comment: NM_001169122.1(AFF2):c.-460_-458GCC(6_25)\r\nLoss of function through methylation silencing is the mechanism of disease\r\nNormal - 5-44 repeats\r\nInconclusive - 45-54 repeats\r\nPremutation - 55-200 repeats\r\nAbnormal - >200 or >230 repeats \nSources: Expert list",
"entity_name": "FRAXE",
"entity_type": "str"
},
{
"created": "2021-08-16T09:31:48.111754+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARF3 as ready",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2021-08-16T09:31:48.101178+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2021-08-16T09:31:34.790897+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARF3 as Amber List (moderate evidence)",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2021-08-16T09:31:34.781301+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2021-08-16T09:30:53.466518+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARF3 was added\ngene: ARF3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARF3 were set to 34346499\nPhenotypes for gene: ARF3 were set to Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system\nReview for gene: ARF3 was set to AMBER\nAdded comment: Sakamoto et al (2021 - PMID: 34346499) provide some evidence that monoallelic ARF3 pathogenic variants may be associated with a NDD with brain abnormality.\r\n\r\nUsing trio exome sequencing, the authors identified 2 individuals with NDD harboring de novo ARF3 variants, namely: NM_001659.2:c.200A>T / p.Asp67Val and c.296G>T / p.Arg99Leu.\r\n\r\nIndividual 1 (with Asp67Val / age : 4y10m), appeared to be more severelely affected with prenatal onset progressive microcephaly, severe global DD, epilepsy. Upon MRI there was cerebellar and brainstem atrophy. Individual 2 (Arg99Leu / 14y) had severe DD and ID (IQ of 23), epilepsy and upon MRI cerebellar hypoplasia. This subject did not exhibit microcephaly. Common facial features incl. broad nose, full cheeks, small philtrum, strabismus, thin upper lips and abnormal jaw. There was no evidence of systemic involvement in both.\r\n\r\nARF3 encodes ADP-ribosylation factor 3. Adenosine diphosphate ribosylation factors (ARFs) are key proteins for regulation of cargo sorting at the Golgi network, with ARF3 mainly working at the trans-Golgi network. ARFs belong to the small GTP-binding protein (G protein) superfamily. ARF3 switches between an active GTP-bound form and an inactive GDP-bound form, regulated by guanine nucleotide exchange factors (GEFs) and GTPase activating proteins (GAPs) respectively.\r\n\r\nMembers of the ARF superfamily regulate various aspects of membrane traffic, among others in neurons. \r\n\r\nThere are 5 homologs of ARF families, divided in 3 classes. ARF3 and ARF1 belong to class I. Monoallelic ARF1 mutations are associated with Periventricular nodular heterotopia 8 (MIM 618185).\r\n\r\nIn vivo, in vitro and in silico studies for the 2 variants suggest that both impair the Golgi transport system although each variant most likely exerts a different effect (gain-of-function for Arg99Leu vs loss-of-function/dominant-negative for Asp67Val).\r\n\r\nThis was also reflected in somewhat different phenotype of the subjects with the respective variants. Common features included severe DD, epilepsy and brain abnormalities although Asp67Val was associated with diffuse brain atrophy as well as congenital microcephaly and Arg99Leu with cerebellar hypoplasia.\r\n\r\nEvidence to support the effect of each variant include:\r\n\r\nArg99Leu:\r\nHad identical Golgi localization to that of wt\r\nHad increased binding activity with GGA1, a protein recruited by the GTP-bound active form of ARF3 to the TGN membrane (supporting GoF)\r\nIn silico structural analysis suggested it may fail to stabilize the conformation of Asp26, resulting in impaired GTP hydrolysis (GoF).\r\nIn transgenic fruit flies, evaluation of the ARF3 variant toxicity using the rough eye phenotype this variant was associated with increased severity of the r-e phenotype similar to a previously studied GoF variant (Gln71Leu) \r\n\r\nAsp67Val:\r\nDid not show a Golgi-like pattern of localization (similar to Thr31Asn a previously studied dominant-negative variant)\r\nDisplayed decreased protein stability\r\nIn silico structural analysis suggested that Asp67Val may lead to compromised binding of GTP or GDP (suggestive of LoF)\r\nIn transgenic Drosophila eye-specific expression of Asp67Val (similar to Thr31Asn, a known dominant-negative variant) was lethal possibly due to high toxicity in very small amounts in tissues outside the eye.\r\n\r\nThere is no associated phenotype in OMIM, G2P or SysID. \nSources: Literature",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2021-08-16T09:28:48.970252+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARF3 as ready",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2021-08-16T09:28:48.961281+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2021-08-16T09:28:44.313281+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARF3 as Amber List (moderate evidence)",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2021-08-16T09:28:44.302863+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2021-08-16T09:27:28.737467+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARF3 as Amber List (moderate evidence)",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2021-08-16T09:27:28.727141+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2021-08-16T09:27:00.100440+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARF3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2021-08-16T04:49:18.120695+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1169",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "gene: ARF3 was added\ngene: ARF3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ARF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ARF3 were set to 34346499\nPhenotypes for gene: ARF3 were set to Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system\nPenetrance for gene: ARF3 were set to unknown\nReview for gene: ARF3 was set to AMBER\nAdded comment: Sakamoto et al (2021 - PMID: 34346499) provide some evidence that monoallelic ARF3 pathogenic variants may be associated with a NDD with brain abnormality.\r\n\r\nUsing trio exome sequencing, the authors identified 2 individuals with NDD harboring de novo ARF3 variants, namely: NM_001659.2:c.200A>T / p.Asp67Val and c.296G>T / p.Arg99Leu.\r\n\r\nIndividual 1 (with Asp67Val / age : 4y10m), appeared to be more severelely affected with prenatal onset progressive microcephaly, severe global DD, epilepsy. Upon MRI there was cerebellar and brainstem atrophy. Individual 2 (Arg99Leu / 14y) had severe DD and ID (IQ of 23), epilepsy and upon MRI cerebellar hypoplasia. This subject did not exhibit microcephaly. Common facial features incl. broad nose, full cheeks, small philtrum, strabismus, thin upper lips and abnormal jaw. There was no evidence of systemic involvement in both.\r\n\r\nARF3 encodes ADP-ribosylation factor 3. Adenosine diphosphate ribosylation factors (ARFs) are key proteins for regulation of cargo sorting at the Golgi network, with ARF3 mainly working at the trans-Golgi network. ARFs belong to the small GTP-binding protein (G protein) superfamily. ARF3 switches between an active GTP-bound form and an inactive GDP-bound form, regulated by guanine nucleotide exchange factors (GEFs) and GTPase activating proteins (GAPs) respectively.\r\n\r\nMembers of the ARF superfamily regulate various aspects of membrane traffic, among others in neurons. \r\n\r\nThere are 5 homologs of ARF families, divided in 3 classes. ARF3 and ARF1 belong to class I. Monoallelic ARF1 mutations are associated with Periventricular nodular heterotopia 8 (MIM 618185).\r\n\r\nIn vivo, in vitro and in silico studies for the 2 variants suggest that both impair the Golgi transport system although each variant most likely exerts a different effect (gain-of-function for Arg99Leu vs loss-of-function/dominant-negative for Asp67Val).\r\n\r\nThis was also reflected in somewhat different phenotype of the subjects with the respective variants. Common features included severe DD, epilepsy and brain abnormalities although Asp67Val was associated with diffuse brain atrophy as well as congenital microcephaly and Arg99Leu with cerebellar hypoplasia.\r\n\r\nEvidence to support the effect of each variant include:\r\n\r\nArg99Leu:\r\nHad identical Golgi localization to that of wt\r\nHad increased binding activity with GGA1, a protein recruited by the GTP-bound active form of ARF3 to the TGN membrane (supporting GoF)\r\nIn silico structural analysis suggested it may fail to stabilize the conformation of Asp26, resulting in impaired GTP hydrolysis (GoF).\r\nIn transgenic fruit flies, evaluation of the ARF3 variant toxicity using the rough eye phenotype this variant was associated with increased severity of the r-e phenotype similar to a previously studied GoF variant (Gln71Leu) \r\n\r\nAsp67Val:\r\nDid not show a Golgi-like pattern of localization (similar to Thr31Asn a previously studied dominant-negative variant)\r\nDisplayed decreased protein stability\r\nIn silico structural analysis suggested that Asp67Val may lead to compromised binding of GTP or GDP (suggestive of LoF)\r\nIn transgenic Drosophila eye-specific expression of Asp67Val (similar to Thr31Asn, a known dominant-negative variant) was lethal possibly due to high toxicity in very small amounts in tissues outside the eye.\r\n\r\nThere is no associated phenotype in OMIM, G2P or SysID. \nSources: Literature",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2021-08-16T04:49:14.061494+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4058",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "gene: ARF3 was added\ngene: ARF3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ARF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ARF3 were set to 34346499\nPhenotypes for gene: ARF3 were set to Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system\nPenetrance for gene: ARF3 were set to unknown\nAdded comment: Sakamoto et al (2021 - PMID: 34346499) provide some evidence that monoallelic ARF3 pathogenic variants may be associated with a NDD with brain abnormality.\r\n\r\nUsing trio exome sequencing, the authors identified 2 individuals with NDD harboring de novo ARF3 variants, namely: NM_001659.2:c.200A>T / p.Asp67Val and c.296G>T / p.Arg99Leu.\r\n\r\nIndividual 1 (with Asp67Val / age : 4y10m), appeared to be more severelely affected with prenatal onset progressive microcephaly, severe global DD, epilepsy. Upon MRI there was cerebellar and brainstem atrophy. Individual 2 (Arg99Leu / 14y) had severe DD and ID (IQ of 23), epilepsy and upon MRI cerebellar hypoplasia. This subject did not exhibit microcephaly. Common facial features incl. broad nose, full cheeks, small philtrum, strabismus, thin upper lips and abnormal jaw. There was no evidence of systemic involvement in both.\r\n\r\nARF3 encodes ADP-ribosylation factor 3. Adenosine diphosphate ribosylation factors (ARFs) are key proteins for regulation of cargo sorting at the Golgi network, with ARF3 mainly working at the trans-Golgi network. ARFs belong to the small GTP-binding protein (G protein) superfamily. ARF3 switches between an active GTP-bound form and an inactive GDP-bound form, regulated by guanine nucleotide exchange factors (GEFs) and GTPase activating proteins (GAPs) respectively.\r\n\r\nMembers of the ARF superfamily regulate various aspects of membrane traffic, among others in neurons. \r\n\r\nThere are 5 homologs of ARF families, divided in 3 classes. ARF3 and ARF1 belong to class I. Monoallelic ARF1 mutations are associated with Periventricular nodular heterotopia 8 (MIM 618185).\r\n\r\nIn vivo, in vitro and in silico studies for the 2 variants suggest that both impair the Golgi transport system although each variant most likely exerts a different effect (gain-of-function for Arg99Leu vs loss-of-function/dominant-negative for Asp67Val).\r\n\r\nThis was also reflected in somewhat different phenotype of the subjects with the respective variants. Common features included severe DD, epilepsy and brain abnormalities although Asp67Val was associated with diffuse brain atrophy as well as congenital microcephaly and Arg99Leu with cerebellar hypoplasia.\r\n\r\nEvidence to support the effect of each variant include:\r\n\r\nArg99Leu:\r\nHad identical Golgi localization to that of wt\r\nHad increased binding activity with GGA1, a protein recruited by the GTP-bound active form of ARF3 to the TGN membrane (supporting GoF)\r\nIn silico structural analysis suggested it may fail to stabilize the conformation of Asp26, resulting in impaired GTP hydrolysis (GoF).\r\nIn transgenic fruit flies, evaluation of the ARF3 variant toxicity using the rough eye phenotype this variant was associated with increased severity of the r-e phenotype similar to a previously studied GoF variant (Gln71Leu) \r\n\r\nAsp67Val:\r\nDid not show a Golgi-like pattern of localization (similar to Thr31Asn a previously studied dominant-negative variant)\r\nDisplayed decreased protein stability\r\nIn silico structural analysis suggested that Asp67Val may lead to compromised binding of GTP or GDP (suggestive of LoF)\r\nIn transgenic Drosophila eye-specific expression of Asp67Val (similar to Thr31Asn, a known dominant-negative variant) was lethal possibly due to high toxicity in very small amounts in tissues outside the eye.\r\n\r\nThere is no associated phenotype in OMIM, G2P or SysID. \nSources: Literature",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2021-08-15T17:00:59.387105+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: DM1 as ready",
"entity_name": "DM1",
"entity_type": "str"
},
{
"created": "2021-08-15T17:00:59.377912+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: dm1 has been classified as Green List (High Evidence).",
"entity_name": "DM1",
"entity_type": "str"
},
{
"created": "2021-08-15T17:00:55.995357+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: DM1 as Green List (high evidence)",
"entity_name": "DM1",
"entity_type": "str"
},
{
"created": "2021-08-15T17:00:55.985441+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: dm1 has been classified as Green List (High Evidence).",
"entity_name": "DM1",
"entity_type": "str"
},
{
"created": "2021-08-15T17:00:30.291042+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: DM1 was added\nSTR: DM1 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: DM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: DM1 were set to 20301344; 29325606\nPhenotypes for STR: DM1 were set to Myotonic dystrophy 1 MIM#160900\nReview for STR: DM1 was set to GREEN\nSTR: DM1 was marked as clinically relevant\nAdded comment: HGVS nomenclature: NM_001081560.2:c.*224_*226CTG[X]\r\nRNA toxic gain of function is mechanism of disease\r\nPremutation: 35-49 repeats, no clinical signs\r\nMild: 50-~150 repeats, age of onset 20-70 yrs, clinical signs - cataracts, mild myotonia\r\nClassic: ~100-~1,000 repeats, age of onset 10-30 yrs, clinical signs - weakness, myotonia, cataracts, balding, cardiac arrhythmia\r\nCongenital: >1,000 repeats, age of onset birth-10 yrs , clinical signs - infantile hypotonia, respiratory deficits, intellectual disability, classic signs in adults \nSources: Expert list",
"entity_name": "DM1",
"entity_type": "str"
},
{
"created": "2021-08-15T16:07:39.442267+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: FXS as ready",
"entity_name": "FXS",
"entity_type": "str"
},
{
"created": "2021-08-15T16:07:39.433459+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: fxs has been classified as Green List (High Evidence).",
"entity_name": "FXS",
"entity_type": "str"
},
{
"created": "2021-08-15T16:07:30.688133+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: FXS as Green List (high evidence)",
"entity_name": "FXS",
"entity_type": "str"
},
{
"created": "2021-08-15T16:07:30.677800+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: fxs has been classified as Green List (High Evidence).",
"entity_name": "FXS",
"entity_type": "str"
},
{
"created": "2021-08-15T16:07:21.670875+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FXS was added\nSTR: FXS was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: FXS 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 STR: FXS were set to 33795824; 25227148\nPhenotypes for STR: FXS were set to Fragile X syndrome\tMIM#300624\nReview for STR: FXS was set to GREEN\nSTR: FXS was marked as clinically relevant\nAdded comment: HGVS nomenclature - NM_002024.5:c.-129_-127CGG[X] \r\nLoss of function through methylation silencing of FMR1 is associated with the FXS phenotype. Intermediate (gray zone, inconclusive, borderline): ~45 to ~54 repeats \r\nPremutation - risk of FXTAS: ~55 to ~200 repeats \r\nFull mutation - fragile X syndrome (FXS): >200 \nSources: Expert list",
"entity_name": "FXS",
"entity_type": "str"
},
{
"created": "2021-08-15T15:01:22.328947+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM3B were changed from Intellectual disability; short stature to Diets-Jongmans syndrome, MIM# 618846; Intellectual disability; short stature; deafness",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2021-08-15T15:01:08.011603+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KDM3B: Changed phenotypes: Diets-Jongmans syndrome, MIM# 618846, Intellectual disability, short stature, deafness",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2021-08-15T15:00:48.585982+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM3B as ready",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2021-08-15T15:00:48.576694+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm3b has been classified as Green List (High Evidence).",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2021-08-15T15:00:46.141933+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM3B were changed from Behavioral abnormality; Seizures; Global developmental delay; Short stature; Intellectual disability to Intellectual disability; short stature",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2021-08-15T15:00:26.295765+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDM3B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2021-08-15T15:00:19.474633+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDM3B as Green List (high evidence)",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2021-08-15T15:00:19.463681+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm3b has been classified as Green List (High Evidence).",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2021-08-15T15:00:09.830891+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30929739; Phenotypes: Intellectual disability, short stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:58:20.126218+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INTS1 as ready",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:58:20.115420+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ints1 has been classified as Green List (High Evidence).",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:58:15.942381+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: INTS1 as Green List (high evidence)",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:58:15.918902+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ints1 has been classified as Green List (High Evidence).",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:58:08.416979+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542170, 30622326, 31428919; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, #MIM:618571, MONDO:0032817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:55:35.973572+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXP4 as ready",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:55:35.959791+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp4 has been classified as Green List (High Evidence).",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:55:33.922564+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP4 were changed from Neurodevelopmental disorder; multiple congenital abnormalities to Neurodevelopmental disorder; multiple congenital abnormalities; short stature",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:55:23.101489+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXP4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:55:16.307994+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXP4 as Green List (high evidence)",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:55:16.296107+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp4 has been classified as Green List (High Evidence).",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:55:08.418757+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33110267; Phenotypes: Neurodevelopmental disorder, multiple congenital abnormalities, short stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:51:16.996233+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG4 as ready",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:51:16.986479+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog4 has been classified as Green List (High Evidence).",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:51:14.447642+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG4 were changed from microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407; Saul-Wilson syndrome, OMIM:618150 to Saul-Wilson syndrome, OMIM:618150; Microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:50:57.999951+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COG4 as Green List (high evidence)",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:50:57.981234+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog4 has been classified as Green List (High Evidence).",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:50:50.262384+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COG4: Changed mode of pathogenicity: Other",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:50:44.593540+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 14 individuals reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like). All have a recurrent de novo heterozygous missense variant (p.Gly516Arg).\r\n\r\nPlease note bi-allelic variants cause CDG.; to: 14 individuals reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like). All have a recurrent de novo heterozygous missense variant (p.Gly516Arg). GoF suggested.\r\n\r\nPlease note bi-allelic variants cause CDG.",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:50:28.170931+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30290151; Phenotypes: Saul-Wilson syndrome, OMIM:618150, Microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:46:50.107390+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIP13 as ready",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:46:50.097270+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:46:45.907482+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIP13 as Amber List (moderate evidence)",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:46:45.890771+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:46:36.266099+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIP13 was added\ngene: TRIP13 was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIP13 were set to 28553959\nPhenotypes for gene: TRIP13 were set to Mosaic variegated aneuploidy syndrome 3, MIM# 617598\nReview for gene: TRIP13 was set to AMBER\nAdded comment: Autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay.\r\n\r\n6 unrelated families reported, but 5 shared the same homozygous stop variant, p.Arg354X, suggestive of founder effect. \nSources: Expert Review",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:45:09.782907+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BUB1B as ready",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:45:09.773196+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bub1b has been classified as Green List (High Evidence).",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:45:06.332524+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BUB1B as Green List (high evidence)",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:45:06.319152+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bub1b has been classified as Green List (High Evidence).",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:44:59.247195+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BUB1B was added\ngene: BUB1B was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BUB1B were set to 18548531\nPhenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1, MIM#257300\nReview for gene: BUB1B was set to GREEN\nAdded comment: Mosaic Variegated Aneuploidy Syndrome (MVA) is a rare autosomal recessive disorder characterized by mosaic aneuploidies involving multiple chromosomes and tissues. Affected individuals typically present with severe intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, developmental delay and predisposition to cancer and epilepsy. \r\n\r\nMore than 10 families reported. \nSources: Expert Review",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:42:58.576477+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP57 as ready",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:42:58.567150+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep57 has been classified as Green List (High Evidence).",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:42:54.879252+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP57 were changed from to Mosaic variegated aneuploidy syndrome 2, #MIM 614114",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:42:29.278476+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP57 were set to ",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:42:08.285156+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:41:34.883387+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP57: Rating: GREEN; Mode of pathogenicity: None; Publications: 24259107, 21552266, 32861809, 30147898; Phenotypes: Mosaic variegated aneuploidy syndrome 2, #MIM 614114; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:40:44.796566+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP57 as ready",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:40:44.787549+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep57 has been classified as Green List (High Evidence).",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:40:37.418937+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP57 were changed from to Mosaic variegated aneuploidy syndrome 2, #MIM 614114",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:40:15.612980+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP57 were set to ",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:39:57.809665+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:39:28.273277+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP57: Rating: GREEN; Mode of pathogenicity: None; Publications: 24259107, 21552266, 32861809, 30147898; Phenotypes: Mosaic variegated aneuploidy syndrome 2, #MIM 614114; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:38:37.567050+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CEP57: Changed publications: 24259107, 21552266, 32861809, 30147898",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:38:21.800237+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP57 as ready",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:38:21.790695+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep57 has been classified as Green List (High Evidence).",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:38:18.368105+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP57 as Green List (high evidence)",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:38:18.359230+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep57 has been classified as Green List (High Evidence).",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:38:11.159339+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP57 were changed from Mosaic variegated aneuploidy syndrome 2, 614114 to Mosaic variegated aneuploidy syndrome 2, MIM#614114",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:38:03.654555+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP57 were set to 24259107; 21552266",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:36:40.985756+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:36:31.381938+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CEP57: Added comment: Mosaic Variegated Aneuploidy Syndrome (MVA) is a rare autosomal recessive disorder characterized by mosaic aneuploidies involving multiple chromosomes and tissues. Affected individuals typically present with severe intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, developmental delay and predisposition to cancer and epilepsy.; Changed publications: 24259107, 21552266, 32861809",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:34:55.373178+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP57: Rating: GREEN; Mode of pathogenicity: None; Publications: 24259107, 21552266; Phenotypes: Mosaic variegated aneuploidy syndrome 2, #MIM 614114; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:32:59.621758+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:CCDC186 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-15T14:31:18.044110+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANAPC1 as ready",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:31:18.033926+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: anapc1 has been classified as Green List (High Evidence).",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:31:10.673871+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANAPC1 were changed from Rothmund-Thomson syndrome, type 1 MIM#618625 to Rothmund-Thomson syndrome, type 1 MIM#618625; MONDO:0016368",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:30:50.009007+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: ANAPC1.",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:30:42.146253+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31303264; Phenotypes: Rothmund Thomson syndrome type 1, #MIM:618625, MONDO:0016368; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:30:23.266781+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: ANAPC1.",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:29:32.490705+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANAPC1 as Green List (high evidence)",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2021-08-15T14:29:32.474562+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: anapc1 has been classified as Green List (High Evidence).",
"entity_name": "ANAPC1",
"entity_type": "gene"
}
]
}