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{
"count": 220293,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1430",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1428",
"results": [
{
"created": "2021-02-01T12:36:52.360148+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.43",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FOXE1 as Green List (high evidence)",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-02-01T12:36:52.342021+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.43",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: foxe1 has been classified as Green List (High Evidence).",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-02-01T12:36:37.775150+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.42",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 9697705, 12165566, 16882747; Phenotypes: Bamforth-Lazarus syndrome, OMIM #241850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-02-01T12:27:22.368640+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.42",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GDF11 was added\ngene: GDF11 was added to Clefting_GEL. Sources: Expert list\nMode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GDF11 were set to PubMed: 31215115\nPhenotypes for gene: GDF11 were set to Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122\nReview for gene: GDF11 was set to RED\nAdded comment: In 5 affected members over 3 generations of a family segregating vertebral hypersegmentation and orofacial anomalies, Cox et al. (2019) identified heterozygosity for a missense mutation in the GDF11 gene (R298Q) that was not found in unaffected family members or in public variant databases. Functional analysis demonstrated that the R298Q substitution prevents cleavage to the active form of the protein, resulting in loss of function. \nSources: Expert list",
"entity_name": "GDF11",
"entity_type": "gene"
},
{
"created": "2021-02-01T12:22:52.855902+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.41",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GNAI3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 22560091, 16114046; Phenotypes: Auriculocondylar syndrome 1, OMIM #602483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-02-01T12:09:45.206197+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.41",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: HOXA2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 18394579; Phenotypes: ?Microtia, hearing impairment, and cleft palate (AR); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2021-02-01T12:00:14.077434+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.41",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: KAT5 as Amber List (moderate evidence)",
"entity_name": "KAT5",
"entity_type": "gene"
},
{
"created": "2021-02-01T12:00:14.069404+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.41",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: kat5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KAT5",
"entity_type": "gene"
},
{
"created": "2021-02-01T12:00:06.174390+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: KAT5 was added\ngene: KAT5 was added to Clefting_GEL. Sources: Expert list\nMode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KAT5 were set to PMID: 32822602\nPhenotypes for gene: KAT5 were set to Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM #619103\nReview for gene: KAT5 was set to AMBER\nAdded comment: In 3 unrelated patients with neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities, they found 3 different de novo heterozygous missense mutations in the KAT5 gene: R53H, C369S, and S413A. Cleft LP and submucous cleft P were observed in 2/3. The mutations were found by exome sequencing and the patients were ascertained through the GeneMatcher program. None of the mutations were present in the gnomAD database. In vitro functional expression studies showed that the mutations resulted in variably decreased histone acetyltransferase (HAT) activity compared to controls. \nSources: Expert list",
"entity_name": "KAT5",
"entity_type": "gene"
},
{
"created": "2021-02-01T11:53:58.422377+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.39",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: LRP6 as Amber List (moderate evidence)",
"entity_name": "LRP6",
"entity_type": "gene"
},
{
"created": "2021-02-01T11:53:58.410131+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.39",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: lrp6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LRP6",
"entity_type": "gene"
},
{
"created": "2021-02-01T11:53:49.389848+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.38",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: LRP6 was added\ngene: LRP6 was added to Clefting_GEL. Sources: Expert list\nMode of inheritance for gene: LRP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LRP6 were set to PMID: 29500247, 26963285\nPhenotypes for gene: LRP6 were set to cleft lip; cleft palate; tooth agenesis; oligodontia\nReview for gene: LRP6 was set to AMBER\nAdded comment: 2 unrelated patients with orofacial clefting reported in two papers with LRP6 variants (p.Cys1532fs, p.?, and p.Arg1125*). no functional data. \nSources: Expert list",
"entity_name": "LRP6",
"entity_type": "gene"
},
{
"created": "2021-02-01T11:45:44.718614+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.37",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: LRRC32 as Amber List (moderate evidence)",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2021-02-01T11:45:44.709854+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.37",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: lrrc32 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2021-02-01T11:45:36.461625+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.36",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: LRRC32 was added\ngene: LRRC32 was added to Clefting_GEL. Sources: Expert list\nMode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRRC32 were set to PMID: 30976112\nPhenotypes for gene: LRRC32 were set to Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074\nReview for gene: LRRC32 was set to AMBER\nAdded comment: Three individuals from two consanguineous families with cleft palate, proliferative retinopathy, and developmental delay had the same homozygous biallelic variant, c.1630C>T; p.(Arg544Ter), segregated and shared haplotype indicative of founder effect. Mouse model has cleft palate and neonatal death. \nSources: Expert list",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2021-02-01T11:41:46.280788+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: MED13L: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25137640, 25712080; Phenotypes: Mental retardation and distinctive facial features with or without cardiac defects, OMIM #616789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2021-02-01T11:19:47.910072+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: HEY2 was added\ngene: HEY2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: HEY2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: HEY2 were set to PMID: 32820247\nPhenotypes for gene: HEY2 were set to congenital heart defects and thoracic aortic aneurysms\nReview for gene: HEY2 was set to RED\nAdded comment: A very large family affected by CHD and familial thoracic aortic aneurysms. Trio genome sequencing was carried out in an index patient with critical CHD, and family members had either exome or Sanger sequencing. Identified homozygous loss-of-function variant (c.318_319delAG, p.G108*) in HEY2 in 3 individuals in family with critical CHD, whereas the 20 heterozygous carriers show a spectrum of CVDs (CHD and FTAA, but varying expressivity and incomplete penetrance). \r\n\r\nOther studies show that knockout of HEY2 in mice results in cardiovascular defects (CVDs), including septal defects, cardiomyopathy, a thin-walled aorta, and valve anomalies. \nSources: Literature",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2021-02-01T11:19:27.352997+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: HEY2 was added\ngene: HEY2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: HEY2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: HEY2 were set to PMID: 32820247\nPhenotypes for gene: HEY2 were set to congenital heart defects and thoracic aortic aneurysms\nReview for gene: HEY2 was set to RED\nAdded comment: A very large family affected by CHD and familial thoracic aortic aneurysms. Trio genome sequencing was carried out in an index patient with critical CHD, and family members had either exome or Sanger sequencing. Identified homozygous loss-of-function variant (c.318_319delAG, p.G108*) in HEY2 in 3 individuals in family with critical CHD, whereas the 20 heterozygous carriers show a spectrum of CVDs (CHD and FTAA, but varying expressivity and incomplete penetrance). \r\n\r\nOther studies show that knockout of HEY2 in mice results in cardiovascular defects (CVDs), including septal defects, cardiomyopathy, a thin-walled aorta, and valve anomalies. \nSources: Literature",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2021-02-01T11:19:14.754084+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.87",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: HEY2 was added\ngene: HEY2 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: HEY2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: HEY2 were set to PMID: 32820247\nPhenotypes for gene: HEY2 were set to congenital heart defects and thoracic aortic aneurysms\nReview for gene: HEY2 was set to RED\nAdded comment: A very large family affected by CHD and familial thoracic aortic aneurysms. Trio genome sequencing was carried out in an index patient with critical CHD, and family members had either exome or Sanger sequencing. Identified homozygous loss-of-function variant (c.318_319delAG, p.G108*) in HEY2 in 3 individuals in family with critical CHD, whereas the 20 heterozygous carriers show a spectrum of CVDs (CHD and FTAA, but varying expressivity and incomplete penetrance). \r\n\r\nOther studies show that knockout of HEY2 in mice results in cardiovascular defects (CVDs), including septal defects, cardiomyopathy, a thin-walled aorta, and valve anomalies. \nSources: Literature",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2021-02-01T10:59:26.219405+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.78",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: FGF9: Added comment: Thuresson et al. (2021) identified a de novo heterozygous missense variant in FGF9 (Pro189Arg) in 16‐year old boy with multiple synostoses syndrome. Functional studies showed this variant impairs FGF9 homodimerization, but not FGFR3c binding.; Changed publications: PMID: 33140402, 28730625, 19589401, 33174625",
"entity_name": "FGF9",
"entity_type": "gene"
},
{
"created": "2021-02-01T10:54:51.591606+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.78",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FGF9 as Green List (high evidence)",
"entity_name": "FGF9",
"entity_type": "gene"
},
{
"created": "2021-02-01T10:54:51.581710+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.78",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fgf9 has been classified as Green List (High Evidence).",
"entity_name": "FGF9",
"entity_type": "gene"
},
{
"created": "2021-02-01T10:54:12.886326+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.77",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33140402, 28730625, 19589401; Phenotypes: Multiple synostoses syndrome 3, OMIM # 612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "FGF9",
"entity_type": "gene"
},
{
"created": "2021-02-01T10:42:47.878443+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3420",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: OTUD5 was added\ngene: OTUD5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: OTUD5 were set to PMID: 33131077\nPhenotypes for gene: OTUD5 were set to X-linked severe neurodevelopmental delay, hydrocephalus, and early lethality\nReview for gene: OTUD5 was set to RED\nAdded comment: 13 male patients from a single family with three generations affected. Patients presented prenatally or during the neonatal period with IUGR, ventriculomegaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and severe neurodevelopmental delay. The disease is typically fatal during infancy, mainly due to sepsis (pneumonias). Female carriers are asymptomatic. WGS in four individuals identified a unique candidate variant in the OTUD5 gene (NM_017602.3:c.598G > A, p.Glu200Lys). The variant cosegregated with the disease in 10 tested individuals. No functional studies. \nSources: Literature",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2021-01-31T22:14:10.158064+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SQOR was added\ngene: SQOR was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SQOR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SQOR were set to 32160317\nPhenotypes for gene: SQOR were set to Leigh-like disorder\nReview for gene: SQOR was set to AMBER\nAdded comment: Two unrelated families and some functional data. \nSources: Literature",
"entity_name": "SQOR",
"entity_type": "gene"
},
{
"created": "2021-01-31T22:13:53.885013+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SQOR as ready",
"entity_name": "SQOR",
"entity_type": "gene"
},
{
"created": "2021-01-31T22:13:53.874608+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sqor has been classified as Amber List (Moderate Evidence).",
"entity_name": "SQOR",
"entity_type": "gene"
},
{
"created": "2021-01-31T22:13:32.321130+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SQOR as Amber List (moderate evidence)",
"entity_name": "SQOR",
"entity_type": "gene"
},
{
"created": "2021-01-31T22:13:32.311773+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sqor has been classified as Amber List (Moderate Evidence).",
"entity_name": "SQOR",
"entity_type": "gene"
},
{
"created": "2021-01-31T22:13:10.568232+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SQOR as Amber List (moderate evidence)",
"entity_name": "SQOR",
"entity_type": "gene"
},
{
"created": "2021-01-31T22:13:10.557648+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sqor has been classified as Amber List (Moderate Evidence).",
"entity_name": "SQOR",
"entity_type": "gene"
},
{
"created": "2021-01-31T22:12:07.231135+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SQOR was added\ngene: SQOR was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: SQOR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SQOR were set to 32160317\nPhenotypes for gene: SQOR were set to Leigh-like disorder\nReview for gene: SQOR was set to AMBER\nAdded comment: Two unrelated families and some functional data. \nSources: Literature",
"entity_name": "SQOR",
"entity_type": "gene"
},
{
"created": "2021-01-31T22:01:39.154721+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG14 as ready",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2021-01-31T22:01:39.107423+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg14 has been classified as Green List (High Evidence).",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2021-01-31T22:00:31.171635+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG14 as Green List (high evidence)",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2021-01-31T22:00:31.161460+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg14 has been classified as Green List (High Evidence).",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:59:59.572889+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG14 was added\ngene: ALG14 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG14 were set to 30221345; 23404334; 28733338\nPhenotypes for gene: ALG14 were set to intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036\nReview for gene: ALG14 was set to GREEN\nAdded comment: 5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype. \nSources: Expert Review",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:57:41.428335+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANKRD11 as ready",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:57:41.417008+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd11 has been classified as Green List (High Evidence).",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:57:08.635491+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANKRD11 as Green List (high evidence)",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:57:08.624605+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd11 has been classified as Green List (High Evidence).",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:56:40.649011+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANKRD11 was added\ngene: ANKRD11 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANKRD11 were set to 29565525; 30182498\nPhenotypes for gene: ANKRD11 were set to KBG syndrome, MIM#148050\nReview for gene: ANKRD11 was set to GREEN\nAdded comment: Seizures are a prominent feature in a subset of individuals with KBG syndrome. \nSources: Expert Review",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:32:10.269241+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HYAL2 as ready",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:32:10.257406+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyal2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:32:01.189467+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HYAL2 as Amber List (moderate evidence)",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:32:01.174347+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyal2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:31:38.145307+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HYAL2 was added\ngene: HYAL2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HYAL2 were set to 28081210; 23172227; 26515055\nPhenotypes for gene: HYAL2 were set to Cleft lip and palate; cor triatriatum; congenital cardiac malformations\nReview for gene: HYAL2 was set to AMBER\nAdded comment: 2 unrelated consanguineous extended families (Amish and Arab) with an orofacial clefting phenotype with cardiac anomalies. \nSources: Literature",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:30:06.394531+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HYAL2 as ready",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:30:06.386692+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyal2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:30:03.210313+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HYAL2 as Amber List (moderate evidence)",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:30:03.201574+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyal2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:29:54.387077+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HYAL2 was added\ngene: HYAL2 was added to Clefting_GEL. Sources: Expert list\nMode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HYAL2 were set to 28081210; 23172227; 26515055\nPhenotypes for gene: HYAL2 were set to Cleft lip and palate; cor triatriatum; congenital cardiac malformations\nReview for gene: HYAL2 was set to AMBER\nAdded comment: 2 unrelated consanguineous extended families (Amish and Arab) with an orofacial clefting phenotype with cardiac anomalies. \nSources: Expert list",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:14:15.101549+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC9A3 as ready",
"entity_name": "SLC9A3",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:14:15.094017+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC9A3",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:14:10.035448+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC9A3 as Amber List (moderate evidence)",
"entity_name": "SLC9A3",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:14:10.024684+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC9A3",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:13:39.301609+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC9A3 was added\ngene: SLC9A3 was added to Inflammatory bowel disease. Sources: Expert Review\nMode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC9A3 were set to 26358773; 33346580\nPhenotypes for gene: SLC9A3 were set to Diarrhoea 8, secretory sodium, congenital 616868; Very Early Onset Inflammatory Bowel Disease\nReview for gene: SLC9A3 was set to AMBER\nAdded comment: Described as a monogenic cause of VEOIBD. 2 patients from unrelated families in a series of 9 cases with SLC9A3-related congenital sodium diarrhoea developed intestinal inflammation/IBD (PMID: 26358773). GWAS have indicated a strong association between SLC9A3 and IBD, and there are supportive mouse models (reviewed in PMID: 26358773).Included on a monogenic IBD gene panel proposed by The Paediatric IBD Porto Group of ESPGHAN (PMID: 33346580). \nSources: Expert Review",
"entity_name": "SLC9A3",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:03:41.283771+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A20 as ready",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:03:41.276429+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a20 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:03:33.782614+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A20 were changed from to Hyperglycinuria, MIM# 138500",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:03:15.067181+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC6A20 were set to ",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:02:55.808519+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:02:36.492818+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC6A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 24816252, 19033659; Phenotypes: Hyperglycinuria, MIM# 138500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2021-01-31T21:01:03.777838+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:SLC6A20 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-31T20:59:33.623793+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC6A20 as Green List (high evidence)",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:59:33.608534+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a20 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:59:23.893017+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC6A20 was added\ngene: SLC6A20 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: SLC6A20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC6A20 were set to 24816252; 19033659\nPhenotypes for gene: SLC6A20 were set to Hyperglycinuria, MIM#\t138500\nReview for gene: SLC6A20 was set to GREEN\nAdded comment: Renal stones. \nSources: Expert list",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:55:43.588442+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A8 as ready",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:55:43.580575+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a8 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:55:37.297369+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC6A8 as Green List (high evidence)",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:55:37.289366+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a8 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:55:17.716381+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC6A8 was added\ngene: SLC6A8 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SLC6A8 were set to 27604308; 16738945\nPhenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, MIM#\t300352\nReview for gene: SLC6A8 was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:52:25.009495+11:00",
"panel_name": "Metabolic Disorders Superpanel",
"panel_id": 3465,
"panel_version": "1.102",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Changed child panels to: Congenital Disorders of Glycosylation; Neurotransmitter Defects; Fatty Acid Oxidation Defects; Mitochondrial disease; Miscellaneous Metabolic Disorders; Rhabdomyolysis; Lysosomal Storage Disorder; Nephrolithiasis and Nephrocalcinosis; Glycogen Storage Diseases; Peroxisomal Disorders; Hypomagnesaemia; Metabolic renal disease; Vitamin C Pathway Disorders; Porphyria; Iron metabolism disorders; Hyperlipidaemia; Hyperammonaemia",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-31T20:31:56.652579+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTLC2 as ready",
"entity_name": "SPTLC2",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:31:56.643316+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptlc2 has been classified as Green List (High Evidence).",
"entity_name": "SPTLC2",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:31:49.956956+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPTLC2 as Green List (high evidence)",
"entity_name": "SPTLC2",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:31:49.946535+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptlc2 has been classified as Green List (High Evidence).",
"entity_name": "SPTLC2",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:31:39.004335+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPTLC2 was added\ngene: SPTLC2 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPTLC2 were set to 27604308; 20920666\nPhenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC, MIM#\t613640; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)\nReview for gene: SPTLC2 was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list",
"entity_name": "SPTLC2",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:29:22.777229+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTLC1 as ready",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:29:22.769233+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptlc1 has been classified as Green List (High Evidence).",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:29:17.747960+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPTLC1 as Green List (high evidence)",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:29:17.737525+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptlc1 has been classified as Green List (High Evidence).",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:29:06.590994+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPTLC1 was added\ngene: SPTLC1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926\nPhenotypes for gene: SPTLC1 were set to Neuropathy, hereditary sensory and autonomic, type IA, MIM#\t162400; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)\nReview for gene: SPTLC1 was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:23:56.194405+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUOX as ready",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:23:56.183875+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suox has been classified as Green List (High Evidence).",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:23:42.462665+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUOX were changed from to Sulfite oxidase deficiency, MIM# 272300",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:23:24.405958+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUOX were set to ",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:22:57.245658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUOX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:22:31.776419+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SUOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 9428520, 15952210, 31127934; Phenotypes: Sulfite oxidase deficiency, MIM# 272300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:22:03.346244+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SUOX: Changed publications: 9428520, 15952210, 31127934; Changed phenotypes: Sulfite oxidase deficiency, MIM# 272300",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:20:33.885179+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUOX as ready",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:20:33.873653+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suox has been classified as Green List (High Evidence).",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:20:29.215072+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUOX as Green List (high evidence)",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:20:29.204853+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suox has been classified as Green List (High Evidence).",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:20:18.352167+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUOX was added\ngene: SUOX was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUOX were set to 9428520; 15952210; 31127934]\nPhenotypes for gene: SUOX were set to Sulfite oxidase deficiency, MIM#\t272300\nReview for gene: SUOX was set to GREEN\nAdded comment: More than 5 unrelated families reported. \nSources: Expert list",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T18:25:23.213589+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TALDO1 as ready",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2021-01-31T18:25:23.206355+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taldo1 has been classified as Green List (High Evidence).",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2021-01-31T18:25:18.722388+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TALDO1 as Green List (high evidence)",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2021-01-31T18:25:18.714932+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taldo1 has been classified as Green List (High Evidence).",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2021-01-31T18:25:08.168117+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TALDO1 was added\ngene: TALDO1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TALDO1 were set to Transaldolase deficiency\t, MIM#606003\nReview for gene: TALDO1 was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list",
"entity_name": "TALDO1",
"entity_type": "gene"
}
]
}