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{
"count": 220437,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1510",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1508",
"results": [
{
"created": "2020-11-06T16:00:06.433691+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.47",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2020-11-06T15:59:58.987110+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.47",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "edited their review of gene: COL2A1: Added comment: Limited evidence for a recessive condition. 8 patients from 5 families, at least 2 mildly affected. Almost all literature dominant.\r\n\r\nPMID: 31755234 (Girisha et al. 2020) six patients from 4 families, variability in phenotype.\r\n\r\nPMID: 32896647 (Al-Sannaa et al 2020) two sibs from consang family with disproportionate short stature, ocular abnormalities, cleft palate and hearing impairment. Radiographic study showed signs of a spondyloepiphyseal dysplasia, compatible with a type 2 collagen disorder. Both siblings homozygous for c.3111+2T > C p.(Glu1 033Lysfs *5) splice site variant in the COL2A1 gene. Het parents phenotypically normal. cDNA analysis on skin fibroblasts demonstrated abberant splicing.\r\nCreated: 6 Nov 2020, 4:59 a.; Changed rating: AMBER",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2020-11-06T15:59:35.564448+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.47",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: None; Publications: 31755234, 32896647; Phenotypes: Spondyloperipheral dysplasia, MIM #271700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2020-11-06T15:52:12.946175+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.47",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "gene: MBTPS1 was added\ngene: MBTPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review,Literature\nMode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MBTPS1 were set to 32857899; 32420688; 30046013\nPhenotypes for gene: MBTPS1 were set to ?Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM #618392\nReview for gene: MBTPS1 was set to AMBER\nAdded comment: Three unrelated individuals reported with bi-allelic variants in this gene and a skeletal dysplasia, one described with SRS-like features. Elevated blood lysosomal enzymes are also a feature. \nSources: Expert Review, Literature",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2020-11-06T15:49:31.091077+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.47",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "gene: TBX22 was added\ngene: TBX22 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TBX22 were set to Cleft palate with ankyloglossia, MIM #303400\nReview for gene: TBX22 was set to RED\nAdded comment: Treatable condition. RED on phenotypic grounds. \nSources: Expert Review",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2020-11-06T15:46:05.564580+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.47",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: POLA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27019227, 31006512; Phenotypes: Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220, Van Esch-O'Driscoll syndrome, MIM #301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2020-11-06T15:44:55.587006+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.47",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2020-11-06T15:44:19.880330+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.47",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "changed review comment from: Immunodeficieny phenotype MIM#301220 has strong gene-disease association but is caused by a specific deep intronic variant that is not detectable by MM ES. See PMID: 27019227.\r\n\r\nVan Esch-O'Driscoll syndrome MIM #30103, which is ID, is described in a single paper PMID 31006512. 5 families, 5 variants in 9 patients, AMBER for gene-disease association.; to: Immunodeficieny phenotype MIM#301220 has strong gene-disease association but is caused by a specific deep intronic variant that is not detectable by MM ES. PMID: 27019227.\r\n\r\nVan Esch-O'Driscoll syndrome MIM #30103, which is ID, is described in a single paper PMID 31006512. 5 families, 5 variants in 9 patients, AMBER for gene-disease association.",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2020-11-06T15:44:03.595225+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.47",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: POLA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27019227; Phenotypes: Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM #301220, Van Esch-O'Driscoll syndrome, MIM #301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2020-11-06T15:35:21.955858+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.47",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: UPB1: Rating: RED; Mode of pathogenicity: None; Publications: 24526388; Phenotypes: Beta-ureidopropionase deficiency, MIM #613161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UPB1",
"entity_type": "gene"
},
{
"created": "2020-11-06T15:34:17.657661+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.47",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "UPB1",
"entity_type": "gene"
},
{
"created": "2020-11-06T15:33:50.841537+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.47",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "changed review comment from: Insufficient evidence that abolition of enzymatic activity is disease-causing. LOF/pathogenic missense alleles at high frequency in general population.In particular, the most frequently reported variant, p.Arg326Gln, is very common among East Asians, with a carrier frequency of 1 in 20 and 1 in 907 being homozygous for the variant. Moreover, published reports (PMID: 24526388) include multiple individuals with mild or no phenotypes. ; to: Insufficient evidence that abolition of enzymatic activity is disease-causing. LOF/pathogenic missense alleles at high frequency in general population.In particular, the most frequently reported variant, p.Arg326Gln, is very common among East Asians, with a carrier frequency of 1 in 20 and 1 in 907 being homozygous for the variant. Moreover, published reports (PMID: 24526388) include multiple individuals with mild or no phenotypes. ",
"entity_name": "UPB1",
"entity_type": "gene"
},
{
"created": "2020-11-06T15:33:38.314001+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.47",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "changed review comment from: Insufficient evidence that abolition of enzymatic activity is disease-causing. LOF/pathogenic missense alleles at high frequency in general population.; to: Insufficient evidence that abolition of enzymatic activity is disease-causing. LOF/pathogenic missense alleles at high frequency in general population.In particular, the most frequently reported variant, p.Arg326Gln, is very common among East Asians, with a carrier frequency of 1 in 20 and 1 in 907 being homozygous for the variant. Moreover, published reports (PMID: 24526388) include multiple individuals with mild or no phenotypes. ",
"entity_name": "UPB1",
"entity_type": "gene"
},
{
"created": "2020-11-06T15:30:36.311735+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.47",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: UPB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UPB1",
"entity_type": "gene"
},
{
"created": "2020-11-06T15:00:59.936087+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.47",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: ERBB3 as ready",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-11-06T15:00:59.927858+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.47",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: erbb3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-11-06T15:00:41.073588+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.47",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: ERBB3 as Amber List (moderate evidence)",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-11-06T15:00:41.067907+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.47",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded to Amber due to limited evidence and variable phenotypes described in literature.",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-11-06T15:00:41.029050+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.47",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: erbb3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-11-06T14:59:42.410886+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.46",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC35A3 as ready",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2020-11-06T14:59:42.399803+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.46",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc35a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2020-11-06T14:59:35.473802+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.46",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SLC35A3 were set to ",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2020-11-06T14:50:50.635996+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.45",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35A3 were changed from ?Arthrogryposis, mental retardation, and seizures to Arthrogryposis, mental retardation, and seizures (MIM615553)",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2020-11-06T14:37:16.537306+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDOB as ready",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2020-11-06T14:37:16.526669+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldob has been classified as Green List (High Evidence).",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2020-11-06T14:37:09.258968+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDOB were changed from to Fructose intolerance, hereditary, 229600",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2020-11-06T14:36:22.674376+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDOB were set to ",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2020-11-06T14:35:58.105228+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALDOB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2020-11-06T12:09:22.618311+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5331",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 3083321; Phenotypes: Fructose intolerance, hereditary, 229600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2020-11-06T10:29:41.805917+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-11-06T10:26:26.671296+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH2 as ready",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2020-11-06T10:26:26.657885+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch2 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2020-11-06T10:26:23.301447+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOTCH2 as Green List (high evidence)",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2020-11-06T10:26:23.293368+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch2 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2020-11-06T10:26:15.594743+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOTCH2 was added\ngene: NOTCH2 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NOTCH2 were set to Alagille syndrome 2, MIM#\t610205\nReview for gene: NOTCH2 was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2020-11-06T09:20:26.817423+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCB4 as ready",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2020-11-06T09:20:26.808653+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb4 has been classified as Green List (High Evidence).",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2020-11-06T09:20:23.062569+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCB4 as Green List (high evidence)",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2020-11-06T09:20:23.053975+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb4 has been classified as Green List (High Evidence).",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2020-11-06T09:20:12.980419+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCB4 was added\ngene: ABCB4 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCB4 were set to 17726488\nPhenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3, MIM#\t602347\nReview for gene: ABCB4 was set to GREEN\nAdded comment: Well established gene disease association. \nSources: Expert list",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2020-11-06T09:18:05.544272+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCB11 as ready",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2020-11-06T09:18:05.532915+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb11 has been classified as Green List (High Evidence).",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2020-11-06T09:18:00.180285+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCB11 as Green List (high evidence)",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2020-11-06T09:18:00.169074+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb11 has been classified as Green List (High Evidence).",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2020-11-06T09:17:51.879170+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCB11 was added\ngene: ABCB11 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCB11 were set to 9806540\nPhenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2, MIM#\t601847\nReview for gene: ABCB11 was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2020-11-06T09:14:58.802114+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP8B1 as ready",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2020-11-06T09:14:58.791145+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp8b1 has been classified as Green List (High Evidence).",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2020-11-06T09:14:54.930651+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP8B1 as Green List (high evidence)",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2020-11-06T09:14:54.921554+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp8b1 has been classified as Green List (High Evidence).",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2020-11-06T09:14:45.242211+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP8B1 was added\ngene: ATP8B1 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP8B1 were set to 15239083\nPhenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1, MIM#\t211600\nReview for gene: ATP8B1 was set to GREEN\nAdded comment: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure. \nSources: Expert list",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2020-11-06T08:53:42.497565+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPT2 as ready",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2020-11-06T08:53:42.488749+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpt2 has been classified as Green List (High Evidence).",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2020-11-06T08:00:01.415578+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CPT2 as Green List (high evidence)",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2020-11-06T08:00:01.407811+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpt2 has been classified as Green List (High Evidence).",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2020-11-06T07:59:52.972417+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPT2 was added\ngene: CPT2 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPT2 were set to 8651281; 1528846; 12410208\nPhenotypes for gene: CPT2 were set to CPT II deficiency, infantile, MIM#\t600649\nReview for gene: CPT2 was set to GREEN\nAdded comment: The infantile form usually presents between 6 and 24 months of age with recurrent attacks of hypoketotic hypoglycemia causing loss of consciousness and seizures, liver failure, and transient hepatomegaly. Some children also have heart involvement with cardiomyopathy and arrhythmia. Episodes are triggered by infections, fever, or fasting. \nSources: Expert list",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2020-11-06T07:53:27.891382+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP7B1 as ready",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2020-11-06T07:53:27.878529+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp7b1 has been classified as Green List (High Evidence).",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2020-11-06T07:53:24.532953+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP7B1 as Green List (high evidence)",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2020-11-06T07:53:24.525474+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp7b1 has been classified as Green List (High Evidence).",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2020-11-06T07:53:15.781483+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP7B1 was added\ngene: CYP7B1 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP7B1 were set to 9802883; 31337596; 21567895; 24658845\nPhenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3, MIM#\t613812\nReview for gene: CYP7B1 was set to GREEN\nAdded comment: At least 4 unrelated families reported. \nSources: Expert list",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2020-11-06T07:38:20.359673+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IARS as ready",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-11-06T07:38:20.349405+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iars has been classified as Green List (High Evidence).",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-11-06T07:38:15.271500+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IARS as Green List (high evidence)",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-11-06T07:38:15.258339+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iars has been classified as Green List (High Evidence).",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-11-06T07:38:07.092632+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IARS was added\ngene: IARS was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IARS were set to 27426735; 27891590\nPhenotypes for gene: IARS were set to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#\t617093\nReview for gene: IARS was set to GREEN\nAdded comment: GRIDHH is an autosomal recessive multisystem disorder characterized by poor overall growth, impaired intellectual development, hypotonia, and variable liver dysfunction. Four unrelated families reported and a zebrafish model. \nSources: Expert list",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-11-05T20:31:10.716944+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC37 as ready",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2020-11-05T20:31:10.702269+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc37 has been classified as Green List (High Evidence).",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2020-11-05T20:31:02.022603+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTC37 as Green List (high evidence)",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2020-11-05T20:31:02.009874+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc37 has been classified as Green List (High Evidence).",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2020-11-05T20:30:42.279234+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC37 was added\ngene: TTC37 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC37 were set to 17318842; 20176027\nPhenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome 1, MIM#\t222470\nReview for gene: TTC37 was set to GREEN\nAdded comment: Clinical features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhoea in infancy requiring total parenteral nutrition, and immunodepression. Hepatic involvement contributes to the poor prognosis of affected patients, cirrhosis reported.\r\n\r\nMore than 20 unrelated families reported. \nSources: Expert list",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2020-11-05T20:26:14.077238+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD3B7 as ready",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2020-11-05T20:26:14.065702+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd3b7 has been classified as Green List (High Evidence).",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2020-11-05T20:25:54.097611+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HSD3B7 as Green List (high evidence)",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2020-11-05T20:25:54.085982+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd3b7 has been classified as Green List (High Evidence).",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2020-11-05T20:25:38.731862+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD3B7 was added\ngene: HSD3B7 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSD3B7 were set to 12679481; 11067870\nPhenotypes for gene: HSD3B7 were set to Bile acid synthesis defect, congenital, 1, MIM#\t607765\nReview for gene: HSD3B7 was set to GREEN\nAdded comment: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive metabolic disorder characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most individuals show spontaneous improvement by 1 year of age. However, some may have a progressive course with continued failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and some may develop chronic or fatal liver disease.\r\n\r\nMore than 10 unrelated families reported. \nSources: Expert list",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2020-11-05T20:19:46.734798+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC115 as ready",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2020-11-05T20:19:46.726780+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc115 has been classified as Green List (High Evidence).",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2020-11-05T20:19:33.759367+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC115 as Green List (high evidence)",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2020-11-05T20:19:33.751686+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc115 has been classified as Green List (High Evidence).",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2020-11-05T20:19:23.602420+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC115 was added\ngene: CCDC115 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC115 were set to 26833332; 29759592\nPhenotypes for gene: CCDC115 were set to Congenital disorder of glycosylation, type IIo, MIM#\t616828\nReview for gene: CCDC115 was set to GREEN\nAdded comment: Autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect. \nSources: Expert list",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2020-11-05T16:40:15.980790+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITFG2 were set to 28397838; https://doi.org/10.1038/s41525-020-00150-z",
"entity_name": "ITFG2",
"entity_type": "gene"
},
{
"created": "2020-11-05T16:39:56.099521+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ITFG2: Changed publications: 28397838, 33083013",
"entity_name": "ITFG2",
"entity_type": "gene"
},
{
"created": "2020-11-05T16:39:27.689024+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITFG2 were set to 28397838; https://doi.org/10.1038/s41525-020-00150-z",
"entity_name": "ITFG2",
"entity_type": "gene"
},
{
"created": "2020-11-05T16:38:48.755818+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ITFG2: Changed rating: AMBER; Changed publications: 33083013; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITFG2",
"entity_type": "gene"
},
{
"created": "2020-11-05T14:35:56.959375+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYO1A as ready",
"entity_name": "MYO1A",
"entity_type": "gene"
},
{
"created": "2020-11-05T14:35:56.947923+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo1a has been classified as Red List (Low Evidence).",
"entity_name": "MYO1A",
"entity_type": "gene"
},
{
"created": "2020-11-05T14:35:42.007150+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYO1A as Red List (low evidence)",
"entity_name": "MYO1A",
"entity_type": "gene"
},
{
"created": "2020-11-05T14:35:41.996067+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo1a has been classified as Red List (Low Evidence).",
"entity_name": "MYO1A",
"entity_type": "gene"
},
{
"created": "2020-11-05T14:35:23.601498+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYO1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYO1A",
"entity_type": "gene"
},
{
"created": "2020-11-05T12:46:46.392213+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.116",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Motor Neuron Disease to Motor Neurone Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-11-05T09:51:51.328573+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-11-05T09:44:38.556537+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARL2 as ready",
"entity_name": "ARL2",
"entity_type": "gene"
},
{
"created": "2020-11-05T09:44:38.548427+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arl2 has been classified as Red List (Low Evidence).",
"entity_name": "ARL2",
"entity_type": "gene"
},
{
"created": "2020-11-05T09:44:28.803660+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARL2 was added\ngene: ARL2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ARL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARL2 were set to 30945270\nPhenotypes for gene: ARL2 were set to Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1), MIM#619082\nReview for gene: ARL2 was set to RED\nAdded comment: Single family reported, missense variant segregating with structural eye abnormalities in 4 individuals (father and three daughters). \nSources: Expert list",
"entity_name": "ARL2",
"entity_type": "gene"
},
{
"created": "2020-11-05T09:43:23.041831+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARL2 as ready",
"entity_name": "ARL2",
"entity_type": "gene"
},
{
"created": "2020-11-05T09:43:23.018472+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arl2 has been classified as Red List (Low Evidence).",
"entity_name": "ARL2",
"entity_type": "gene"
},
{
"created": "2020-11-05T09:43:06.165152+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARL2 was added\ngene: ARL2 was added to Cataract. Sources: Expert list\nMode of inheritance for gene: ARL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARL2 were set to 30945270\nPhenotypes for gene: ARL2 were set to Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1), MIM#619082\nReview for gene: ARL2 was set to RED\nAdded comment: Single family reported, missense variant segregating with structural eye abnormalities in 4 individuals (father and three daughters). \nSources: Expert list",
"entity_name": "ARL2",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:52:27.944736+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMX1B were changed from Nail-patella syndrome, MIM#\t161200 to Nail-patella syndrome, MIM#\t161200, MONDO:0008061",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:51:53.098667+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LMX1B: Changed phenotypes: Nail-patella syndrome, MIM# 161200, MONDO:0008061",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:51:25.370141+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Nail-patella syndrome (NPS) is an autosomal-dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Varying degrees of proteinuria or hematuria are present, and can occasionally progress to chronic renal failure. Some variants in the homeodomain of LMX1B cause isolated nephropathy without nail, patellar or skeletal abnormality (LMX1B-associated nephropathy). >300 families reported.; to: Nail-patella syndrome (NPS) is an autosomal-dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Varying degrees of proteinuria or hematuria are present, and can occasionally progress to chronic renal failure. >300 families reported.",
"entity_name": "LMX1B",
"entity_type": "gene"
}
]
}