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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=278",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=276",
"results": [
{
"created": "2025-04-02T12:09:51.161669+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csnk1a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CSNK1A1",
"entity_type": "gene"
},
{
"created": "2025-04-02T12:09:05.397373+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSNK1A1 was added\ngene: CSNK1A1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CSNK1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CSNK1A1 were set to 40156289\nPhenotypes for gene: CSNK1A1 were set to Infantile spasms, MONDO:0018097, CSNK1A1-related\nReview for gene: CSNK1A1 was set to AMBER\nAdded comment: Two individuals with de novo variants and some supportive functional data. \nSources: Literature",
"entity_name": "CSNK1A1",
"entity_type": "gene"
},
{
"created": "2025-04-02T11:58:15.171663+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SVBP were changed from Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly; OMIM #618569 to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MIM #618569; Spastic paraplegia 94, autosomal recessive, MIM# 621150",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2025-04-02T11:57:50.285844+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SVBP were set to PMID: 31363758; 30607023",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2025-04-02T11:57:17.970769+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SVBP: Added comment: PMID 39412222: 6 individuals from 3 families with spastic paraplegia and the same homozygous missense (L49P). Presented from birth or childhood with DD/ID and spastic paraplegia. Additional features: verbal apraxia, axonal neuropathy, ataxia, nystagmus, epilepsy, and aggressive behaviour. Brain MRIs were performed in 3 individuals and showed thinning of the corpus callosum, cerebellar atrophy, and ventriculomegaly; frontal ventricular hyperintensities suggestive of the 'ear of the lynx' sign in 2. Three individuals had a history of cancer of epithelial origin, including adenocarcinoma (patient 1), colonic tubular adenoma (patient 2), and breast cancer (patient 3).; Changed publications: 39412222; Changed phenotypes: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MIM #618569, Spastic paraplegia 94, autosomal recessive, MIM# 621150",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2025-04-02T11:52:31.286319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SVBP were changed from Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly; OMIM #618569 to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MIM #618569; Spastic paraplegia 94, autosomal recessive, MIM# 621150",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2025-04-02T11:52:08.838793+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SVBP were set to 31363758; 30607023",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2025-04-02T11:51:22.129617+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SVBP: Added comment: PMID 39412222: 6 individuals from 3 families with spastic paraplegia and the same homozygous missense (L49P). Presented from birth or childhood with DD/ID and spastic paraplegia. Additional features: verbal apraxia, axonal neuropathy, ataxia, nystagmus, epilepsy, and aggressive behaviour. Brain MRIs were performed in 3 individuals and showed thinning of the corpus callosum, cerebellar atrophy, and ventriculomegaly; frontal ventricular hyperintensities suggestive of the 'ear of the lynx' sign in 2. Three individuals had a history of cancer of epithelial origin, including adenocarcinoma (patient 1), colonic tubular adenoma (patient 2), and breast cancer (patient 3).; Changed publications: 31363758, 30607023, 39412222; Changed phenotypes: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MIM #618569, Spastic paraplegia 94, autosomal recessive, MIM# 621150",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2025-04-02T11:50:09.685685+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SVBP as ready",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2025-04-02T11:50:09.676985+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: svbp has been classified as Amber List (Moderate Evidence).",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2025-04-02T11:49:59.735650+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SVBP as Amber List (moderate evidence)",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2025-04-02T11:49:59.727930+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: svbp has been classified as Amber List (Moderate Evidence).",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2025-04-02T11:49:34.365914+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SVBP was added\ngene: SVBP was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nfounder tags were added to gene: SVBP.\nMode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SVBP were set to 39412222\nPhenotypes for gene: SVBP were set to Spastic paraplegia 94, autosomal recessive, MIM#\t621150\nReview for gene: SVBP was set to AMBER\nAdded comment: 6 individuals from 3 families with spastic paraplegia and the same homozygous missense (L49P). Presented from birth or childhood with DD/ID and spastic paraplegia. Additional features: verbal apraxia, axonal neuropathy, ataxia, nystagmus, epilepsy, and aggressive behaviour. Brain MRIs were performed in 3 individuals and showed thinning of the corpus callosum, cerebellar atrophy, and ventriculomegaly; frontal ventricular hyperintensities suggestive of the 'ear of the lynx' sign in 2. Three individuals had a history of cancer of epithelial origin, including adenocarcinoma (patient 1), colonic tubular adenoma (patient 2), and breast cancer (patient 3). \nSources: Literature",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2025-04-02T06:40:47.308008+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2400",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: CFAP54: Rating: GREEN; Mode of pathogenicity: None; Publications: 39362668; Phenotypes: Ciliary dyskinesia, primary, 54, OMIM:621125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFAP54",
"entity_type": "gene"
},
{
"created": "2025-04-01T21:10:09.451918+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.68",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "gene: TAX1BP3 was added\ngene: TAX1BP3 was added to Arrhythmogenic Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: TAX1BP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAX1BP3 were set to (PMID: 39963794)\nPhenotypes for gene: TAX1BP3 were set to arrhythmogenic cardiomyopathy\nPenetrance for gene: TAX1BP3 were set to unknown\nReview for gene: TAX1BP3 was set to AMBER\nAdded comment: Biallelic variants (1 x del, 1 x missense) in TAX1BP3 cause a novel autosomal recessive form of arrhythmogenic cardiomyopathy. \r\nOne family only, but 3 affected sibs had the bialleic variants which were absent in an unaffected sister. Carrier parents were normal.\r\nExperimental work on patient-derived induced pluripotent stem cell cardiac myocytes and a knockout mouse showed that show loss of TAX1BP3 causes calcium dysregulation in cardiomyocytes, a known mechanism for arrhythmia.\r\n\r\nSuggest this one is AMBER until more case level data evolves. \nSources: Literature",
"entity_name": "TAX1BP3",
"entity_type": "gene"
},
{
"created": "2025-04-01T10:17:56.533478+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2400",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: NR2F2 were changed from 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779 Current\t 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779 Edit; 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779 to Syndromic disease, MONDO:0002254, NR2F2-related",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2025-04-01T10:17:32.159127+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2399",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: NR2F2 were changed from Krithika Murali (Victorian Clinical Genetics Services)\t46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779 Current\t 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779 Edit; 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779 to 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779 Current\t 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779 Edit; 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2025-04-01T05:56:21.997016+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2398",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: CFAP74: Rating: GREEN; Mode of pathogenicity: None; Publications: 32555313, 36047773, 39362668; Phenotypes: Ciliary dyskinesia, primary, 49, without situs inversus, OMIM:620197; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFAP74",
"entity_type": "gene"
},
{
"created": "2025-03-31T15:43:40.648455+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2398",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NEB: Rating: AMBER; Mode of pathogenicity: None; Publications: 39802796, 30679003, 33933294; Phenotypes: congenital structural myopathy MONDO:0002921; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2025-03-31T14:31:26.250765+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2398",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "commented on gene: FAM126A",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2025-03-31T14:16:41.656489+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.115",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TFRC: Rating: GREEN; Mode of pathogenicity: None; Publications: 32851577, 38270687; Phenotypes: TFRC-related combined immunodeficiency MONDO:0014760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TFRC",
"entity_type": "gene"
},
{
"created": "2025-03-31T14:16:00.984327+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2398",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TFRC: Rating: GREEN; Mode of pathogenicity: None; Publications: 32851577, 38270687; Phenotypes: TFRC-related combined immunodeficiency MONDO:0014760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TFRC",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:58:20.958092+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRMP1 as ready",
"entity_name": "CRMP1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:58:20.948681+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crmp1 has been classified as Green List (High Evidence).",
"entity_name": "CRMP1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:58:15.176297+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRMP1 as Green List (high evidence)",
"entity_name": "CRMP1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:58:15.169883+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crmp1 has been classified as Green List (High Evidence).",
"entity_name": "CRMP1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:57:52.477023+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRMP1 was added\ngene: CRMP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: CRMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CRMP1 were set to 36511780; 39758889\nPhenotypes for gene: CRMP1 were set to neurodevelopmental disorder, MONDO:0700092, CRMP2-related\nReview for gene: CRMP1 was set to GREEN\nAdded comment: PMID:36511780 reported the identification of three different heterozygous de novo variants in the CRMP1 gene (p.(Pro589Leu), p.(Thr427Met) & p.(Phe351Ser)) in three unrelated individuals with a neurodevelopmental disorder presenting with muscular hypotonia, intellectual disability, and/or autism spectrum disorder. ID was moderate in two of them, while IQ was normal in one. There is also functional evidence available for these variants.\r\n\r\nPMID:39758889 reported the identification of a novel heterozygous de novo frameshift variant in CRMP1 (p.(Lys586fs)) in a 9-year-old male patient presenting with phenotypes such as autism, language delay, hyperactivity, and learning disabilities. This patient was reported with moderate ID.\r\n\r\nFour individuals with neurodevelopmental disorders and de novo variants in this gene. \nSources: Expert Review",
"entity_name": "CRMP1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:55:30.913456+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRMP1 as ready",
"entity_name": "CRMP1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:55:30.906208+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crmp1 has been classified as Green List (High Evidence).",
"entity_name": "CRMP1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:55:08.909087+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRMP1 were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092, CRMP2-related",
"entity_name": "CRMP1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:54:49.006595+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRMP1 as Green List (high evidence)",
"entity_name": "CRMP1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:54:48.997738+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crmp1 has been classified as Green List (High Evidence).",
"entity_name": "CRMP1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:53:34.346973+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder, MONDO:0700092, CRMP2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRMP1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:49:18.507027+11:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HEPHL1 as Red List (low evidence)",
"entity_name": "HEPHL1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:49:18.499709+11:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hephl1 has been classified as Red List (Low Evidence).",
"entity_name": "HEPHL1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:44:53.878888+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDHX as ready",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:44:53.875912+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Meets criteria, for inclusion in next version.",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:44:53.853476+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdhx has been removed from the panel.",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:44:38.113400+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: PDHX.",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:43:45.272374+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTULIN as ready",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:43:45.269601+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: For review. Likely meets criteria for inclusion in next version.",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:43:45.238278+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otulin has been removed from the panel.",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:43:17.090978+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTULIN were changed from to Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive MIM#617099",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:43:07.411342+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTULIN were set to ",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:42:57.340870+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: OTULIN.",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:42:22.290442+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGTR1 as ready",
"entity_name": "AGTR1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:42:22.287507+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Meets criteria, for inclusion in next version.",
"entity_name": "AGTR1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:42:22.264530+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agtr1 has been removed from the panel.",
"entity_name": "AGTR1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:42:11.450560+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: AGTR1.",
"entity_name": "AGTR1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:41:44.528191+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTPAP as ready",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:41:44.525396+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Meets criteria, for inclusion in next version.",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:41:44.494960+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtpap has been removed from the panel.",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:41:25.611182+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: MTPAP.",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:40:43.836579+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBM8A as ready",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:40:43.828067+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbm8a has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:40:38.191708+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBM8A as Amber List (moderate evidence)",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:40:38.184966+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbm8a has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:40:28.343569+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia-absent radius syndrome MIM#274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:38:56.125301+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCO1 as ready",
"entity_name": "SCO1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:38:56.122340+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Meets criteria, for inclusion in next version.",
"entity_name": "SCO1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:38:56.102222+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sco1 has been removed from the panel.",
"entity_name": "SCO1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:38:43.309166+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: SCO1.",
"entity_name": "SCO1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:38:22.846698+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX19 as ready",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:38:22.843662+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Meets criteria, for inclusion in next version.",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:38:22.819008+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex19 has been removed from the panel.",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:37:57.052998+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: PEX19.",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:37:31.321493+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRWD3 as ready",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:37:31.312944+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brwd3 has been classified as Green List (High Evidence).",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:37:28.598531+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRWD3 were changed from Mental retardation, X-linked 93, 300659 (3) to Intellectual developmental disorder, X-linked 93 MIM#300659",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:37:17.439582+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRWD3 were set to ",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:36:50.622822+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASK as ready",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:36:50.616573+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cask has been classified as Green List (High Evidence).",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:36:47.546484+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASK were changed from Mental retardation, with or without nystagmus to X-linked syndromic intellectual disability MONDO:0020119",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:36:37.424322+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CASK were set to ",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:09:03.429008+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2396",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PIGQ: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008756; Phenotypes: developmental and epileptic encephalopathy, 77 MONDO:0032808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGQ",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:05:42.695257+11:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.47",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: HEPHL1 was added\ngene: HEPHL1 was added to Metal Metabolism Disorders. Sources: ClinGen\nMode of inheritance for gene: HEPHL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HEPHL1 were set to 31125343\nPhenotypes for gene: HEPHL1 were set to pili torti-developmental delay-neurological abnormalities syndrome MONDO:0009871\nReview for gene: HEPHL1 was set to RED\nAdded comment: Classified as LIMITED by General Inborn Errors of Metabolism GCEP on 28/03/2025 - https://search.clinicalgenome.org/CCID:008755\r\n\r\nReported in a proband with biallelic variant. The variant was shown to affect ferroxidase activity result in abnormal hair phenotype. ?inborn error of iron metabolism \nSources: ClinGen",
"entity_name": "HEPHL1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:05:26.049069+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2396",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Classified as LIMITED by General Inborn Errors of Metabolism GCEP on 28/03/2025 - https://search.clinicalgenome.org/CCID:008755\r\n\r\nReported in a proband with chet variant. The variant was shown to affect ferroxidase activity result in abnormal hair phenotype. ?inborn error of iron metabolism; to: Classified as LIMITED by General Inborn Errors of Metabolism GCEP on 28/03/2025 - https://search.clinicalgenome.org/CCID:008755\r\n\r\nReported in a proband with biallelic variant. The variant was shown to affect ferroxidase activity result in abnormal hair phenotype. ?inborn error of iron metabolism",
"entity_name": "HEPHL1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:05:07.541367+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2396",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Classified as LIMITED by General Inborn Errors of Metabolism GCEP on 28/03/2025 - https://search.clinicalgenome.org/CCID:008755\r\n\r\nReported in a proband with chet variants. The variant was shown to affect ferroxidase activity result in abnormal hair phenotype. ?inborn error of iron metabolism; to: Classified as LIMITED by General Inborn Errors of Metabolism GCEP on 28/03/2025 - https://search.clinicalgenome.org/CCID:008755\r\n\r\nReported in a proband with chet variant. The variant was shown to affect ferroxidase activity result in abnormal hair phenotype. ?inborn error of iron metabolism",
"entity_name": "HEPHL1",
"entity_type": "gene"
},
{
"created": "2025-03-31T12:03:34.404768+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2396",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: HEPHL1: Rating: RED; Mode of pathogenicity: None; Publications: 31125343; Phenotypes: pili torti-developmental delay-neurological abnormalities syndrome MONDO:0009871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEPHL1",
"entity_type": "gene"
},
{
"created": "2025-03-30T19:16:50.014032+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAN2B2 were changed from Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related; immunodeficiency to Congenital disorder of glycosylation type 1EE with or without immunodeficiency, MIM# 621140",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2025-03-30T19:16:19.074447+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAN2B2 as Green List (high evidence)",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2025-03-30T19:16:19.067275+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2b2 has been classified as Green List (High Evidence).",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2025-03-30T19:16:03.049825+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAN2B2: Added comment: Third individual reported PMID 38622837 with compound het missense variants, supportive functional data.; Changed rating: GREEN; Changed publications: 31775018, 35637269, 38622837; Changed phenotypes: Congenital disorder of glycosylation type 1EE with or without immunodeficiency, MIM# 621140",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2025-03-30T19:15:00.823483+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAN2B2 were changed from Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related to Congenital disorder of glycosylation type 1EE with or without immunodeficiency, MIM# 621140",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2025-03-30T19:14:27.431505+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAN2B2 as Green List (high evidence)",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2025-03-30T19:14:27.421179+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2b2 has been classified as Green List (High Evidence).",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2025-03-30T19:14:11.665814+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAN2B2 as Green List (high evidence)",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2025-03-30T19:14:11.656834+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2b2 has been classified as Green List (High Evidence).",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2025-03-30T19:13:37.944883+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAN2B2: Added comment: Third individual reported PMID 38622837 with compound het missense variants, supportive functional data.; Changed rating: GREEN; Changed publications: 31775018, 35637269, 38622837; Changed phenotypes: Congenital disorder of glycosylation type 1EE with or without immunodeficiency, MIM# 621140",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2025-03-28T10:34:58.600632+11:00",
"panel_name": "Progressive Neurological Conditions",
"panel_id": 3377,
"panel_version": "19.84",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-03-27T23:01:56.757541+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1811",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: 21954287, 12522552, 19377476, 20029458, 28139025, 28944139; Phenotypes: X-linked syndromic intellectual disability MONDO:0020119; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2025-03-27T22:43:33.291926+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1811",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: BRWD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17668385, 30628072, 24462886; Phenotypes: Intellectual developmental disorder, X-linked 93 MIM#300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2025-03-27T16:30:09.525594+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MKKS were changed from Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700; Retinitis pigmentosa to Ciliopathy, MONDO:0005308, MKKS-related; Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700; Retinitis pigmentosa",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2025-03-27T16:29:04.414905+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MKKS were changed from Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700; Retinitis pigmentosa to Ciliopathy, MONDO:0005308, MKKS-related; Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700; Retinitis pigmentosa",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2025-03-27T16:28:38.703248+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MKKS: Changed phenotypes: Ciliopathy, MONDO:0005308, MKKS-related, McKusick-Kaufman syndrome, MIM# 236700, Retinitis pigmentosa.",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2025-03-27T16:26:16.832790+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEPE were changed from hereditary congenital facial paresis; otosclerosis to Nonsyndromic genetic hearing loss, MONDO:0019497, MEPE-related; hereditary congenital facial paresis; otosclerosis",
"entity_name": "MEPE",
"entity_type": "gene"
},
{
"created": "2025-03-27T16:25:56.658508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MEPE: Changed phenotypes: Nonsyndromic genetic hearing loss, MONDO:0019497, MEPE-related, hereditary congenital facial paresis, otosclerosis",
"entity_name": "MEPE",
"entity_type": "gene"
},
{
"created": "2025-03-27T16:24:35.125611+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCM7 were changed from Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency to Syndromic disease, MONDO:0002254, MCM7-related; Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2025-03-27T16:24:00.600846+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCM7 were changed from Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency to Syndromic disease, MONDO:0002254, MCM7-related; Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2025-03-27T16:23:40.039936+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCM7 were changed from Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency to Syndromic disease, MONDO:0002254, MCM7-related; Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency",
"entity_name": "MCM7",
"entity_type": "gene"
}
]
}