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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1403",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1401",
"results": [
{
"created": "2021-02-23T09:30:54.436418+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akap6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AKAP6",
"entity_type": "gene"
},
{
"created": "2021-02-23T09:15:09.221950+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6420",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ASCC3 as ready",
"entity_name": "ASCC3",
"entity_type": "gene"
},
{
"created": "2021-02-23T09:15:09.211873+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6420",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ascc3 has been classified as Green List (High Evidence).",
"entity_name": "ASCC3",
"entity_type": "gene"
},
{
"created": "2021-02-23T09:14:57.477095+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6420",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ASCC3 as Green List (high evidence)",
"entity_name": "ASCC3",
"entity_type": "gene"
},
{
"created": "2021-02-23T09:14:57.466030+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6420",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ascc3 has been classified as Green List (High Evidence).",
"entity_name": "ASCC3",
"entity_type": "gene"
},
{
"created": "2021-02-23T09:14:02.682890+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6419",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ASCC3 was added\ngene: ASCC3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASCC3 were set to 21937992; https://doi.org/10.1016/j.xhgg.2021.100024\nPhenotypes for gene: ASCC3 were set to Neuromuscular syndrome; congenital myopathy\nReview for gene: ASCC3 was set to GREEN\nAdded comment: 11 individuals from 7 unrelated families with homozygous (missense) or compound heterozygous variants (missense with a presumed LoF variant or 2 missense, no biallelic LoF) with a neurologic phenotype that ranges from severe developmental delay to muscle fatigue. \nSources: Literature",
"entity_name": "ASCC3",
"entity_type": "gene"
},
{
"created": "2021-02-23T09:01:36.751049+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6418",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: RDH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32232344; Phenotypes: Fundus albipunctatus (MIM#136880); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:27:59.222429+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HS2ST1 as ready",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:27:59.214152+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hs2st1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:27:56.399868+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HS2ST1 were changed from Intellectual disability; dysmorphic features; congenital anomalies; arthrogryposis to Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Intellectual disability; dysmorphic features; congenital anomalies; arthrogryposis",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:27:19.833284+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HS2ST1: Changed phenotypes: Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194, Intellectual disability, dysmorphic features, congenital anomalies, arthrogryposis",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:27:06.766786+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HS2ST1 were changed from Developmental delay and corpus callosum, skeletal, and renal abnormalities; disorder of glycosaminoglycan metabolism to Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Developmental delay and corpus callosum, skeletal, and renal abnormalities; disorder of glycosaminoglycan metabolism",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:26:52.823016+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HS2ST1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:26:31.848142+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HS2ST1 were changed from Intellectual disability; dysmorphic features; congenital anomalies to Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Intellectual disability; dysmorphic features; congenital anomalies",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:25:54.880190+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HS2ST1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:25:29.114549+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HS2ST1 were changed from Intellectual disability; dysmorphic features; congenital anomalies to Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Intellectual disability; dysmorphic features; congenital anomalies",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:25:05.733392+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HS2ST1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:23:58.932730+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBR7 were changed from Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features to Li-Campeau syndrome, MIM# 619189; Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:23:21.650231+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBR7: Changed phenotypes: Li-Campeau syndrome, MIM# 619189, Intellectual disability, epilepsy, hypothyroidism, congenital anomalies, dysmorphic features",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:23:04.430184+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBR7 were changed from Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features to Li-Campeau syndrome, MIM# 619189; Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:22:31.434188+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBR7: Changed phenotypes: Li-Campeau syndrome, MIM# 619189, Intellectual disability, epilepsy, hypothyroidism, congenital anomalies, dysmorphic features",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:22:04.642946+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBR7 were changed from Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features to Li-Campeau syndrome, MIM# 619189; Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:21:43.129852+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBR7: Changed phenotypes: Li-Campeau syndrome, MIM# 619189, Intellectual disability, epilepsy, hypothyroidism, congenital anomalies, dysmorphic features",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:19:24.732088+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBR7 were changed from Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features to Li-Campeau syndrome, MIM# 619189; Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:18:44.126080+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBR7: Changed phenotypes: Li-Campeau syndrome, MIM# 619189, Intellectual disability, epilepsy, hypothyroidism, congenital anomalies, dysmorphic features",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:17:52.445156+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF292 were changed from Intellectual disability; autism; ADHD to Intellectual developmental disorder, autosomal dominant 63, MIM# 619188; Intellectual disability; autism; ADHD",
"entity_name": "ZNF292",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:17:15.038024+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ZNF292",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:17:09.505361+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZNF292: Changed rating: GREEN; Changed phenotypes: Intellectual developmental disorder, autosomal dominant 63, MIM# 619188; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZNF292",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:16:39.310096+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF292 were changed from Intellectual disability; Autism; ADHD to Intellectual developmental disorder, autosomal dominant 63, MIM# 619188; Intellectual disability; Autism; ADHD",
"entity_name": "ZNF292",
"entity_type": "gene"
},
{
"created": "2021-02-22T20:16:11.397373+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZNF292: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 63, MIM# 619188, Intellectual disability, Autism, ADHD",
"entity_name": "ZNF292",
"entity_type": "gene"
},
{
"created": "2021-02-22T17:58:37.086871+11:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ARSG were set to 29300381; 20679209; 25452429; 26975023",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2021-02-22T17:58:10.810684+11:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ARSG as Green List (high evidence)",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2021-02-22T17:58:10.807289+11:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: 2 additional families reported, upgraded to green",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2021-02-22T17:58:10.787647+11:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arsg has been classified as Green List (High Evidence).",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2021-02-22T17:57:40.900057+11:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33300174, 29300381, 32455177, 26975023; Phenotypes: Usher syndrome, type IV MIM#618144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2021-02-22T17:55:51.031210+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6415",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ARSG were set to 29300381; 20679209; 25452429; 26975023; 32455177",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2021-02-22T17:55:28.647810+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6414",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ARSG as Green List (high evidence)",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2021-02-22T17:55:28.643414+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6414",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: 2 additional families reported, upgraded to green",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2021-02-22T17:55:28.623817+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6414",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arsg has been classified as Green List (High Evidence).",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2021-02-22T17:54:10.499259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6413",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33300174, 29300381, 32455177, 26975023; Phenotypes: Usher syndrome, type IV MIM#618144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2021-02-22T08:17:47.965515+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMNB2 were changed from Congenital microcephaly; Global developmental delay; Intellectual disability to Microcephaly 27, primary, autosomal dominant, MIM# 619180; Congenital microcephaly; Global developmental delay; Intellectual disability",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2021-02-22T08:17:10.875395+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 27, primary, autosomal dominant, MIM# 619180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2021-02-22T08:16:42.775951+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMNB2 were changed from Congenital microcephaly; Global developmental delay; Intellectual disability to Microcephaly 27, primary, autosomal dominant, MIM# 619180; Congenital microcephaly; Global developmental delay; Intellectual disability",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2021-02-22T08:16:08.854877+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 27, primary, autosomal dominant, MIM# 619180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2021-02-22T08:15:44.649732+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMNB2 were changed from {Lipodystrophy, partial, acquired, susceptibility to} 608709; Congenital microcephaly, Intellectual disability to {Lipodystrophy, partial, acquired, susceptibility to} 608709; Microcephaly 27, primary, autosomal dominant, MIM# 619180; Congenital microcephaly, Intellectual disability",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2021-02-22T08:15:15.991138+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LMNB2: Changed phenotypes: {Lipodystrophy, partial, acquired, susceptibility to} 608709, Microcephaly 27, primary, autosomal dominant, MIM# 619180, Congenital microcephaly, Intellectual disability",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2021-02-22T08:14:21.198308+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: LMNB1.",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2021-02-22T08:13:10.559636+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMNB1 were changed from Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM#169500 to Microcephaly 26, primary, autosomal dominant, MIM# 619179; Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM#169500",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2021-02-22T08:12:03.067134+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMNB1 were changed from Global developmental delay; Intellectual disability; Microcephaly; Short stature; Seizures; Abnormality of the corpus callosum; Cortical gyral simplification; Feeding difficulties; Scoliosis to Microcephaly 26, primary, autosomal dominant, MIM# 619179; Global developmental delay; Intellectual disability; Microcephaly; Short stature; Seizures; Abnormality of the corpus callosum; Cortical gyral simplification; Feeding difficulties; Scoliosis",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2021-02-22T08:11:26.885358+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LMNB1: Changed phenotypes: Microcephaly 26, primary, autosomal dominant, MIM# 619179, Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2021-02-22T08:11:06.351451+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMNB1 were changed from Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM#169500 to Microcephaly 26, primary, autosomal dominant, MIM# 619179; Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM#169500",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2021-02-22T08:10:39.028793+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LMNB1: Changed phenotypes: Microcephaly 26, primary, autosomal dominant, MIM# 619179, Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis, Leukodystrophy, adult-onset, autosomal dominant, MIM#169500",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2021-02-20T19:22:36.724089+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF13 were changed from Intellectual disability; epilepsy to Developmental and epileptic encephalopathy 90, MIM# 301058; Intellectual disability; epilepsy",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2021-02-20T19:22:01.976651+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FGF13: Changed phenotypes: Developmental and epileptic encephalopathy 90, MIM# 301058, Intellectual disability, epilepsy",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2021-02-20T19:21:47.060567+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF13 were changed from Intellectual disability; epilepsy to Developmental and epileptic encephalopathy 90, MIM# 301058; Intellectual disability; epilepsy",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2021-02-20T19:21:14.515187+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FGF13: Changed phenotypes: Developmental and epileptic encephalopathy 90, MIM# 301058, Intellectual disability, epilepsy",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2021-02-20T19:20:44.977611+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF13 were changed from Intellectual disability; epilepsy to Developmental and epileptic encephalopathy 90, MIM# 301058; Intellectual disability; epilepsy",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2021-02-20T19:20:16.755015+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FGF13: Changed phenotypes: Developmental and epileptic encephalopathy 90, MIM# 301058, Intellectual disability, epilepsy",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2021-02-19T14:18:31.545291+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRYM as ready",
"entity_name": "CRYM",
"entity_type": "gene"
},
{
"created": "2021-02-19T14:18:31.537638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crym has been classified as Green List (High Evidence).",
"entity_name": "CRYM",
"entity_type": "gene"
},
{
"created": "2021-02-19T14:16:35.164322+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRYM were changed from to Deafness, autosomal dominant 40 MIM#616357",
"entity_name": "CRYM",
"entity_type": "gene"
},
{
"created": "2021-02-19T14:16:15.562220+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRYM were set to ",
"entity_name": "CRYM",
"entity_type": "gene"
},
{
"created": "2021-02-19T14:15:53.009106+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRYM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYM",
"entity_type": "gene"
},
{
"created": "2021-02-19T14:13:45.945774+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRYM were set to 12471561; 16740909; 18448257; 24676347; 26915689",
"entity_name": "CRYM",
"entity_type": "gene"
},
{
"created": "2021-02-19T14:12:54.789399+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRYM as Green List (high evidence)",
"entity_name": "CRYM",
"entity_type": "gene"
},
{
"created": "2021-02-19T14:12:54.780799+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crym has been classified as Green List (High Evidence).",
"entity_name": "CRYM",
"entity_type": "gene"
},
{
"created": "2021-02-19T13:01:48.858017+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6407",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: CRYM: Rating: GREEN; Mode of pathogenicity: None; Publications: 32742378, 12471561, 16740909, 18448257, 24676347, 26915689; Phenotypes: Deafness, autosomal dominant 40 MIM#616357; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CRYM",
"entity_type": "gene"
},
{
"created": "2021-02-19T12:57:57.562919+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.50",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: CRYM: Rating: GREEN; Mode of pathogenicity: None; Publications: 32742378; Phenotypes: Deafness, autosomal dominant 40 MIM#616357; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CRYM",
"entity_type": "gene"
},
{
"created": "2021-02-19T11:55:33.191537+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HARS as ready",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2021-02-19T11:55:33.182649+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hars has been classified as Green List (High Evidence).",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2021-02-19T11:55:25.279538+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HARS were changed from Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625 to Charcot-Marie-Tooth disease, axonal, type 2W MIM#616625; Usher syndrome type 3B MIM#614504; Multisystemic ataxic syndrome",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2021-02-19T11:55:04.342056+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HARS were set to 26072516",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2021-02-19T11:54:41.814084+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HARS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2021-02-19T10:32:24.076141+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6404",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: HARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32333447, 32940403, 26072516; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2W MIM#616625, Usher syndrome type 3B MIM#614504, Multisystemic ataxic syndrome; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2021-02-19T09:54:51.879175+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP47 were changed from asthenoteratozoospermia; morphological abnormalities of the flagella (MMAF) to Spermatogenic failure, X-linked, 3, MIM# 301059; asthenoteratozoospermia; morphological abnormalities of the flagella (MMAF)",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2021-02-19T09:54:24.519022+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CFAP47: Changed phenotypes: Spermatogenic failure, X-linked, 3, MIM# 301059",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2021-02-19T09:04:23.503642+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMG2 were changed from CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy to Proteasome-associated autoinflammatory syndrome 4, MIM#\t619183; CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy",
"entity_name": "PSMG2",
"entity_type": "gene"
},
{
"created": "2021-02-19T09:03:59.286465+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSMG2: Changed phenotypes: Proteasome-associated autoinflammatory syndrome 4, MIM# 619183, CANDLE syndrome, Chronic atypical neutrophilic dermatitis with lipodystrophy",
"entity_name": "PSMG2",
"entity_type": "gene"
},
{
"created": "2021-02-19T09:03:36.983780+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMG2 were changed from CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy to Proteasome-associated autoinflammatory syndrome 4, MIM#\t619183; CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy",
"entity_name": "PSMG2",
"entity_type": "gene"
},
{
"created": "2021-02-19T09:02:57.083676+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSMG2: Changed phenotypes: Proteasome-associated autoinflammatory syndrome 4, MIM# 619183, CANDLE syndrome, Chronic atypical neutrophilic dermatitis with lipodystrophy",
"entity_name": "PSMG2",
"entity_type": "gene"
},
{
"created": "2021-02-19T09:02:01.133173+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMB10 were changed from Autoinflammatory syndrome to Proteasome-associated autoinflammatory syndrome 5, MIM# 619175",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2021-02-19T09:01:42.609255+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSMB10: Changed phenotypes: Proteasome-associated autoinflammatory syndrome 5, MIM# 619175",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2021-02-19T09:01:15.708116+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMB10 were changed from Autoinflammatory syndrome to Proteasome-associated autoinflammatory syndrome 5, MIM# 619175",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2021-02-19T09:00:34.314445+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSMB10: Changed phenotypes: Proteasome-associated autoinflammatory syndrome 5, MIM# 619175, Autoinflammatory syndrome",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2021-02-18T20:59:43.306607+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMVK as ready",
"entity_name": "PMVK",
"entity_type": "gene"
},
{
"created": "2021-02-18T20:59:43.298233+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmvk has been classified as Green List (High Evidence).",
"entity_name": "PMVK",
"entity_type": "gene"
},
{
"created": "2021-02-18T20:59:33.949749+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PMVK as Green List (high evidence)",
"entity_name": "PMVK",
"entity_type": "gene"
},
{
"created": "2021-02-18T20:59:33.941838+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmvk has been classified as Green List (High Evidence).",
"entity_name": "PMVK",
"entity_type": "gene"
},
{
"created": "2021-02-18T20:59:16.715084+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PMVK was added\ngene: PMVK was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: PMVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PMVK were set to 26202976\nPhenotypes for gene: PMVK were set to Porokeratosis 1, multiple types, MIM# 175800\nReview for gene: PMVK was set to GREEN\nAdded comment: At least 9 individuals reported. \nSources: Expert Review",
"entity_name": "PMVK",
"entity_type": "gene"
},
{
"created": "2021-02-18T20:45:43.566294+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"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": "2021-02-18T20:45:23.699150+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease; Tasmanian Clinical Genetics Service",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-02-18T20:44:13.889605+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CARD14 as ready",
"entity_name": "CARD14",
"entity_type": "gene"
},
{
"created": "2021-02-18T20:44:13.881708+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: card14 has been classified as Red List (Low Evidence).",
"entity_name": "CARD14",
"entity_type": "gene"
},
{
"created": "2021-02-18T20:44:11.938035+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CARD14 were changed from ILVEN (submitted 2 cases) to Inflammatory linear verrucous epidermal naevus",
"entity_name": "CARD14",
"entity_type": "gene"
},
{
"created": "2021-02-18T20:43:53.770308+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Cannot find evidence for somatic mosaicism.; to: Unpublished data.",
"entity_name": "CARD14",
"entity_type": "gene"
},
{
"created": "2021-02-18T20:43:40.261494+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CARD14: Changed phenotypes: Inflammatory linear verrucous epidermal naevus",
"entity_name": "CARD14",
"entity_type": "gene"
},
{
"created": "2021-02-18T20:41:59.355798+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CARD14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pityriasis rubra pilaris, MIM# 173200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CARD14",
"entity_type": "gene"
},
{
"created": "2021-02-18T20:41:01.885585+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TEK as ready",
"entity_name": "TEK",
"entity_type": "gene"
},
{
"created": "2021-02-18T20:41:01.869441+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tek has been classified as Amber List (Moderate Evidence).",
"entity_name": "TEK",
"entity_type": "gene"
},
{
"created": "2021-02-18T20:40:36.991707+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TEK: Rating: AMBER; Mode of pathogenicity: None; Publications: 27519652; Phenotypes: Venous malformations, multiple cutaneous and mucosal, 600195; Mode of inheritance: None",
"entity_name": "TEK",
"entity_type": "gene"
}
]
}