HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1811",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1809",
"results": [
{
"created": "2020-05-04T12:39:20.995612+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIBF1 as Green List (high evidence)",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:39:20.987070+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pibf1 has been classified as Green List (High Evidence).",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:38:25.502819+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ZIC1 was changed from Other to Other",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:38:03.244917+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ZIC1 was changed from to Other",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:37:43.724233+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZIC1 were set to ",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:37:14.068897+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZIC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:36:47.249059+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZIC1 as Red List (low evidence)",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:36:47.238789+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zic1 has been classified as Red List (Low Evidence).",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:36:18.120275+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZIC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Structural brain anomalies with impaired intellectual development and craniosynostosis (MIM#618736); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:32:19.757609+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VLDLR: Added comment: VLDLR guides neuroblast migration in the cerebral cortex and cerebellum (PMID: 16080122).\r\n\r\nPMID: 16080122 - Whole gene homozygous deletion affecting 8 patients in 3 related Hutterite families. The deletion extended in neighbouring LOC401491 (no known function)\r\nPatients displayed symptoms including delayed ambulation, truncal ataxia, strabismus and pes planus in the majority of patients, seizures in 40% of patients, and short stature in 15% of patients. Magnetic resonance imaging (MRI) demonstrates inferior cerebellar hypoplasia and mild cortical gyral simplification.\r\n\r\nPMID: 18326629 - Two families with homozygous PTCs. Patients had impaired cerebrocerebellar function including cerebrocerebellar hypoplasia, vermial hypoplasia, and gait.\r\n\r\nPMID: 10380922 - Mouse models are neurologically normal. Knockout mice show malformation of neuronal layers, Purkinje cell assemble incorrectly, there are inverted cortical layers\r\n\r\nSummary: 3 independant families + animal studies; Changed publications: 16080122, 18326629, 10380922",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:31:10.797454+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VLDLR as ready",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:31:10.787801+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vldlr has been classified as Red List (Low Evidence).",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:31:05.158036+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:30:36.056213+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VLDLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:30:11.755336+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VLDLR as Red List (low evidence)",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:30:11.746029+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vldlr has been classified as Red List (Low Evidence).",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:29:35.422571+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VLDLR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:24:24.477057+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WNT1 as Red List (low evidence)",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:24:24.462831+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt1 has been classified as Red List (Low Evidence).",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:23:53.539413+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WNT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XV (MIM#615220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T11:09:29.124395+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.73",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: WNT1 was added\ngene: WNT1 was added to Ciliopathies. Sources: Expert Review\nMode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNT1 were set to 26671912; 23499309; 23434763\nPhenotypes for gene: WNT1 were set to Osteogenesis imperfecta, type XV (MIM#615220)\nAdded comment: WNT1 causes AR OI, brain (cerebellar) malformations not a consistent feature.\r\n\r\nPMID: 26671912; Reviewed clinical and brain imaging of 6 patients from 4 families (2 unrelated Hmong fams with same variant, likely founder). Cerebellar hypoplasia in 5 of 6 patients with varied severity. Cerebellar abnormalities inconsistent between the 3 Hmong patients with same variant.\r\n\r\nPMID: 23499309; Reported hom variants in 5 consang fams with autosomal-recessive OI. Ataxia, other signs of\r\ncerebellar dysfunction not a key feature, only one patient showed brain malformations.\r\n\r\nPMID: 23434763; Reported 3 families with OI, no brain malformations described. \nSources: Expert Review",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T11:06:24.791078+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.20",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: WNT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26671912, 23499309, 23434763; Phenotypes: Osteogenesis imperfecta, type XV (MIM#615220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T10:58:37.629507+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.73",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: VLDLR was added\ngene: VLDLR was added to Ciliopathies. Sources: Expert list\nMode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VLDLR were set to PMID: 16080122; 18326629; 10380922\nPhenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1\t224050\nReview for gene: VLDLR was set to GREEN\nAdded comment: VLDLR guides neuroblast migration in the cerebral cortex and cerebellum (PMID: 16080122).\r\n\r\nPMID: 16080122 - Whole gene homozygous deletion affecting 8 patients in 3 related Hutterite families. The deletion extended in neighbouring LOC401491 (no known function)\r\nPatients displayed symptoms including delayed ambulation, truncal ataxia, strabismus and pes planus in the majority of patients, seizures in 40% of patients, and short stature in 15% of patients. Magnetic resonance imaging (MRI) demonstrates inferior cerebellar hypoplasia and mild cortical gyral simplification.\r\n\r\nPMID: 18326629 - Two families with homozygous PTCs. Patients had impaired cerebrocerebellar function including cerebrocerebellar hypoplasia, vermial hypoplasia, and gait.\r\n\r\nPMID: 10380922 - Mouse models are neurologically normal. Knockout mice show malformation of neuronal layers, Purkinje cell assemble incorrectly, there are inverted cortical layers\r\n\r\nSummary: 3 independant families + animal studies \nSources: Expert list",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2020-05-04T10:19:04.639449+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.73",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: ZIC1 was added\ngene: ZIC1 was added to Ciliopathies. Sources: Expert Review\nMode of inheritance for gene: ZIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZIC1 were set to 26340333; 9412507; 14981711\nPhenotypes for gene: ZIC1 were set to Structural brain anomalies with impaired intellectual development and craniosynostosis (MIM#618736)\nMode of pathogenicity for gene: ZIC1 was set to Other\nReview for gene: ZIC1 was set to AMBER\nAdded comment: Single paper from 2015 with reports of variants in ZIC1 - unsure if JS phenotype? Amber/Red\r\n\r\nPMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism\r\n\r\nPMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia (1998)\r\n\r\nPMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients \nSources: Expert Review",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-05-04T10:17:31.037237+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.20",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "changed review comment from: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism\r\n\r\nPMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia (1998)\r\n\r\nPMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients; to: Single paper from 2015 with reports of variants in ZIC1 - unsure if JS phenotype? Amber/Red\r\n\r\nPMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism\r\n\r\nPMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia (1998)\r\n\r\nPMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-05-04T10:13:37.116753+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.20",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-05-04T10:13:35.106559+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.20",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "changed review comment from: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism\r\n\r\nPMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia\r\n\r\nPMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients; to: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism\r\n\r\nPMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia (1998)\r\n\r\nPMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-05-04T10:13:23.436018+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.20",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "changed review comment from: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism\r\n\r\nPMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia; to: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism\r\n\r\nPMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia (1998)",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-05-04T10:12:50.059456+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.20",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "commented on gene: ZIC1: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism\r\n\r\nPMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia\r\n\r\nPMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-05-04T10:12:43.376235+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.20",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "edited their review of gene: ZIC1: Changed publications: 26340333, 9412507, 14981711",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-05-04T10:06:25.765768+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.20",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: ZIC1: Rating: AMBER; Mode of pathogenicity: Other; Publications: 26340333, 9412507; Phenotypes: Structural brain anomalies with impaired intellectual development and craniosynostosis (MIM#618736); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:59:20.018452+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.73",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: PIBF1 was added\ngene: PIBF1 was added to Ciliopathies. Sources: Expert Review\nMode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIBF1 were set to PMID:26167768; 30858804; 29695797\nPhenotypes for gene: PIBF1 were set to Joubert syndrome 33, OMIM #617767\nReview for gene: PIBF1 was set to GREEN\nAdded comment: 7 families altogether: 3 of these are Hutterite and share the same founder variant.\r\nSources: Expert list \nSources: Expert Review",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:56:11.198200+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.73",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: NID1 was added\ngene: NID1 was added to Ciliopathies. Sources: Expert Review\nMode of inheritance for gene: NID1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NID1 were set to PMID: 23674478; 25558065; 12480912; 30773799\nPhenotypes for gene: NID1 were set to Dandy-Walker malformation and occipital cephalocele; Hydrocephalus with or without seizures\nAdded comment: no OMIM disease association\r\n\r\nPMID: 23674478 - single Vietnamese family (14 affecteds) with Dandy-Walker variant/cerebellar vermal hypoplasia ± cephalocele had a heterozygous nonsense. Normal eye examination.\r\n\r\nPMID: 25558065 - reports 2 sibs with hydrocephalus with a heterozygous splice variant resulting in an inframe insertion (confirmed by RT-PCR). Brother shows additional phenotypes of seizures and focal epilepsy.\r\n\r\nPMID: 12480912 - mouse model with neurological deficits including seizure-like symptoms, altered basement membrane morphology in brain capillaries and the lens capsule. \r\n\r\nPMID: 30773799 - 1 family Dandy-Walker malformation and occipital cephalocele with the nonsense from PMID: 23674478. Familial variation, affecteds lack cerebellar involvement\r\n\r\nSummary: 3 families & animal model - hard to tell if the phenotype is related \nSources: Expert Review",
"entity_name": "NID1",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:49:16.148747+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DARS2 as ready",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:49:16.140191+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dars2 has been classified as Green List (High Evidence).",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:49:11.920873+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DARS2 as Green List (high evidence)",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:49:11.909004+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dars2 has been classified as Green List (High Evidence).",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:49:03.763402+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DARS2 was added\ngene: DARS2 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DARS2 were set to 17384640; 15002045; 16788019\nPhenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM#\t611105\nReview for gene: DARS2 was set to GREEN\nAdded comment: Slowly progressive disorder with variable age of onset, but onset of symptoms reported in childhood in many. \nSources: Expert list",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:42:27.640000+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DARS as ready",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:42:27.631005+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dars has been classified as Green List (High Evidence).",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:42:21.561049+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DARS as Green List (high evidence)",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:42:21.551278+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dars has been classified as Green List (High Evidence).",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:42:14.512451+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: DARS.",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:42:06.283850+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DARS was added\ngene: DARS was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DARS were set to 25527264; 23643384\nPhenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281\nReview for gene: DARS was set to GREEN\nAdded comment: Onset typically in infancy with lower limb spasticity. Brain MRI shows extensive white matter abnormalities involving the supratentorial white matter, brainstem, cerebellar peduncles, and dorsal columns and lateral corticospinal tracts of the spinal cord. However, two individuals with adolescent onset described in 25527264, mimicking steroid-responsive neuroinflammatory disorder. HGNC approved name DARS1. \nSources: Expert list",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:39:50.236604+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DARS as ready",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:39:50.228285+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dars has been classified as Green List (High Evidence).",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:39:35.214878+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DARS were changed from to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:39:02.424486+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DARS were set to ",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:37:47.924111+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:37:16.148133+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: DARS.",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:37:01.202867+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 25527264, 23643384; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:35:44.628669+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DARS as ready",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:35:44.619753+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dars has been classified as Green List (High Evidence).",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:35:36.365707+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DARS were changed from to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:35:16.723629+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DARS were set to ",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:34:55.953959+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:34:35.014023+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: DARS.",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:34:21.111402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 25527264, 23643384; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:33:04.538737+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DARS as ready",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:33:04.530097+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dars has been classified as Green List (High Evidence).",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:32:57.927924+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: DARS.",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:32:46.146961+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:29:43.720972+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.20",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: ZIC4: Rating: RED; Mode of pathogenicity: None; Publications: 21204220, 15338008; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "ZIC4",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:28:58.438318+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DARS as ready",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:28:58.426059+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dars has been classified as Green List (High Evidence).",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:28:50.666734+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: DARS.",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:28:42.386851+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DARS as Green List (high evidence)",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:28:42.377953+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dars has been classified as Green List (High Evidence).",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:28:23.213882+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DARS was added\ngene: DARS was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DARS were set to 23643384\nPhenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM#\t615281\nReview for gene: DARS was set to GREEN\nAdded comment: Onset typically in infancy with lower limb spasticity. Brain MRI shows extensive white matter abnormalities involving the supratentorial white matter, brainstem, cerebellar peduncles, and dorsal columns and lateral corticospinal tracts of the spinal cord. HGNC approved name DARS1. \nSources: Expert list",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:15:44.150674+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN2 as ready",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:15:44.140000+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn2 has been classified as Green List (High Evidence).",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:15:40.628444+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLCN2 as Green List (high evidence)",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:15:40.615508+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn2 has been classified as Green List (High Evidence).",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:15:31.733157+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLCN2 was added\ngene: CLCN2 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: CLCN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLCN2 were set to 23707145\nPhenotypes for gene: CLCN2 were set to Leukoencephalopathy with ataxia, MIM#\t615651\nReview for gene: CLCN2 was set to GREEN\nAdded comment: At least six families reported, three with adult onset and three with childhood onset. \nSources: Expert list",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:12:54.258925+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.73",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: ICK was added\ngene: ICK was added to Ciliopathies. Sources: Expert Review\nMode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ICK were set to 19185282; 27069622; 27466187; 24797473; 24853502\nPhenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia (MIM#612651)\nReview for gene: ICK was set to GREEN\nAdded comment: 3 families reported, functional studies and animal models.\r\n\r\nPMID: 19185282; 6 affected from 2 Amish families with endocrine-cerebro-osteodysplasia (ECO)\r\n\r\nPMID: 27069622; A different variant reported in a Turkish fetus presenting with ECO and overlapping features of ciliopathies. Functional studies showed abnormal ciliary localization.\r\n\r\nPMID: 27466187; Additional variant identified in a patient with short rib polydactyly syndromes (SRPS). Functional studies showed that the variant caused ciliary defects\r\n\r\nPMID: 24797473; Ick deficient mice showed ciliary defects. Authors concluded that ICK is required for normal ciliogenesis\r\n\r\nPMID: 24853502; Ick knockout mice recapitulates clinical symptoms of ECO. Defects in ICK caused aberrant ciliogenesis \nSources: Expert Review",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:11:20.626100+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.11",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "edited their review of gene: ICK: Changed publications: 19185282, 27069622, 27466187, 24797473, 24853502",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:10:36.780697+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASPA as ready",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:10:36.771726+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aspa has been classified as Green List (High Evidence).",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:10:29.447186+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASPA as Green List (high evidence)",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:10:29.435681+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aspa has been classified as Green List (High Evidence).",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:10:18.524194+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASPA was added\ngene: ASPA was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASPA were set to Canavan disease, MIM#\t271900\nReview for gene: ASPA was set to GREEN\nAdded comment: Congenital, infantile, and late-onset forms of Canavan disease reported. \nSources: Expert list",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:10:06.903402+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.11",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "changed review comment from: 3 families reported, functional studies and animal models.\r\n\r\nPMID: 19185282; 6 affected from 2 Amish families with endocrine-cerebro-osteodysplasia (ECO)\r\n\r\nPMID: 27069622; A different variant reported in a Turkish fetus presenting with ECO and overlapping features of ciliopathies. Functional studies showed abnormal ciliary localization. \r\n\r\nPMID: 27466187; Additional variant identified in a patient with short rib polydactyly syndromes (SRPS). Functional studies showed that the variant caused ciliary defects\r\n\r\nPMID: 24797473; Ick deficient mice showed ciliary defects. Authors concluded that ICK is required for normal ciliogenesis\r\n\r\nPMID: 24853502; Ick knockout mice recapitulates clinical symptoms of ECO. Defects in ICK caused aberrant ciliogenesis; to: 3 families reported, functional studies and animal models.\r\n\r\nPMID: 19185282; 6 affected from 2 Amish families with endocrine-cerebro-osteodysplasia (ECO)\r\n\r\nPMID: 27069622; A different variant reported in a Turkish fetus presenting with ECO and overlapping features of ciliopathies. Functional studies showed abnormal ciliary localization. \r\n\r\nPMID: 27466187; Additional variant identified in a patient with short rib polydactyly syndromes (SRPS). Functional studies showed that the variant caused ciliary defects\r\n\r\nPMID: 24797473; Ick deficient mice showed ciliary defects. Authors concluded that ICK is required for normal ciliogenesis\r\n\r\nPMID: 24853502; Ick knockout mice recapitulates clinical symptoms of ECO. Defects in ICK caused aberrant ciliogenesis",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:08:53.040675+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.11",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "changed review comment from: 3 families reported, functional studies and animal models.\r\n\r\nPMID: 19185282; 6 affected from 2 Amish families with endocrine-cerebro-osteodysplasia (ECO)\r\n\r\nPMID: 27069622; A different variant reported in a Turkish fetus presenting with ECO and overlapping features of ciliopathies. Functional studies showed abnormal ciliary localization. \r\n\r\nPMID:27069622; Additional variant identified in a patient with short rib polydactyly syndromes (SRPS) . Functional studies showed that the variant caused ciliary defects\r\n\r\nPMID: 24797473; Ick deficient mice showed ciliary defects. Authors concluded that ICK is required for normal ciliogenesis\r\n\r\nPMID: 24853502; Ick knockout mice recapitulates clinical symptoms of ECO. Defects in ICK caused aberrant ciliogenesis; to: 3 families reported, functional studies and animal models.\r\n\r\nPMID: 19185282; 6 affected from 2 Amish families with endocrine-cerebro-osteodysplasia (ECO)\r\n\r\nPMID: 27069622; A different variant reported in a Turkish fetus presenting with ECO and overlapping features of ciliopathies. Functional studies showed abnormal ciliary localization. \r\n\r\nPMID: 27466187; Additional variant identified in a patient with short rib polydactyly syndromes (SRPS). Functional studies showed that the variant caused ciliary defects\r\n\r\nPMID: 24797473; Ick deficient mice showed ciliary defects. Authors concluded that ICK is required for normal ciliogenesis\r\n\r\nPMID: 24853502; Ick knockout mice recapitulates clinical symptoms of ECO. Defects in ICK caused aberrant ciliogenesis",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:06:23.772807+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSA as ready",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:06:23.763881+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsa has been classified as Green List (High Evidence).",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:06:19.095086+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARSA as Green List (high evidence)",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:06:19.084332+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsa has been classified as Green List (High Evidence).",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:06:09.355785+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARSA was added\ngene: ARSA was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARSA were set to Metachromatic leukodystrophy, MIM#\t250100\nReview for gene: ARSA was set to GREEN\nAdded comment: More severe forms present in infancy/childhood. \nSources: Expert list",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:05:26.003565+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.11",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: ICK: Rating: GREEN; Mode of pathogenicity: None; Publications: 19185282, 27069622, 27069622, 24797473, 24853502; Phenotypes: Endocrine-cerebroosteodysplasia (MIM#612651); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:02:22.210423+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH3A2 as ready",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:02:22.201670+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh3a2 has been classified as Green List (High Evidence).",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:02:18.465953+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALDH3A2 as Green List (high evidence)",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:02:18.456906+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh3a2 has been classified as Green List (High Evidence).",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-05-04T09:02:09.800005+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH3A2 was added\ngene: ALDH3A2 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, MIM#\t270200\nReview for gene: ALDH3A2 was set to GREEN\nAdded comment: Onset of signs and symptoms is typically in infancy, though white matter changes become more pronounced with age. \nSources: Expert list",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:51:58.788494+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: CCDC65.",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:51:03.700640+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC65 as ready",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:51:03.689115+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc65 has been classified as Green List (High Evidence).",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:50:52.113928+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC65 were changed from to Ciliary dyskinesia, primary, 27, MIM# 615504",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:50:25.528874+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC65 were set to ",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-05-04T08:50:00.845839+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC65",
"entity_type": "gene"
}
]
}