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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1127",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1125",
"results": [
{
"created": "2021-11-17T00:56:06.738476+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNTNAP2 were set to ",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:55:51.368634+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNTNAP2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:55:30.573308+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNTNAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:54:50.720115+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNTNAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16571880, 19896112, 27439707; Phenotypes: Cortical dysplasia-focal epilepsy syndrome, MIM# 610042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:53:58.420767+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNTNAP2 as ready",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:53:58.411386+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntnap2 has been classified as Green List (High Evidence).",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:53:51.228650+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNTNAP2 were changed from to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:53:28.099064+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNTNAP2 were set to ",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:53:06.776003+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNTNAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:52:48.382473+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNTNAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16571880, 19896112, 27439707; Phenotypes: Cortical dysplasia-focal epilepsy syndrome, MIM# 610042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:51:11.804819+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 10 unrelated families reported, with a Pitt-Hopkins like syndrome.; to: More than 10 unrelated families reported, with a Pitt-Hopkins like syndrome. Typical clinical features include delayed psychomotor development, intellectual disability, severe speech impairment or regression, and behavioural abnormalities. Most patients have onset of seizures within the first years of life. Some patients may have cortical dysplasia on brain imaging.",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:49:51.484331+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNTNAP2 as ready",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:49:51.471666+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntnap2 has been classified as Green List (High Evidence).",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:49:46.996847+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNTNAP2 were changed from CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:49:30.410753+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNTNAP2 were set to ",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:49:15.267217+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNTNAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16571880, 19896112, 27439707]; Phenotypes: Cortical dysplasia-focal epilepsy syndrome, MIM# 610042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:46:14.090003+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple affected individuals reported; ID is part of the phenotype.; to: Multiple affected individuals reported, multiple contractures.",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:45:46.471024+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNTNAP1 as ready",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:45:46.461619+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntnap1 has been classified as Green List (High Evidence).",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:45:39.213640+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNTNAP1 were changed from LETHAL CONGENITAL CONTRACTURE SYNDROME 7 to Hypomyelinating neuropathy, congenital, 3, MIM#618186; Lethal congenital contracture syndrome 7, MIM# 616286",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:45:26.475431+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNTNAP1 were set to ",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:44:37.386601+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNOT3 as ready",
"entity_name": "CNOT3",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:44:37.375211+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnot3 has been classified as Green List (High Evidence).",
"entity_name": "CNOT3",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:44:32.476611+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNOT3 were changed from CNOT3 syndrome; Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672 to Intellectual developmental disorder with speech delay, autism, and dysmorphic facies , MIM#618672",
"entity_name": "CNOT3",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:44:14.094797+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNOT3 were set to ",
"entity_name": "CNOT3",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:44:04.206371+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNOT3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CNOT3",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:43:36.059829+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Comment when marking as ready: 16 unrelated individuals reported.; to: 16 unrelated individuals reported.\r\n\r\nSkeletal and structural brain abnormalities in some.",
"entity_name": "CNOT3",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:43:17.685054+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CNOT3: Changed rating: GREEN",
"entity_name": "CNOT3",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:42:01.732428+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNOT1 as ready",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:42:01.720815+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnot1 has been classified as Green List (High Evidence).",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:41:57.453257+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNOT1 were changed from Holoprosencephaly 12, with or without pancreatic agenesis, 618500 to Holoprosencephaly 12, with or without pancreatic agenesis, 618500; Vissers-Bodmer syndrome, MIM#619033",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:41:42.161167+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNOT1 were set to 31006513; 31006510",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:41:18.357220+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNOT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:40:38.241792+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLPB as ready",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:40:38.228836+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clpb has been classified as Green List (High Evidence).",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:40:34.079314+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLPB were changed from 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:40:18.710945+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLPB were set to ",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:40:07.004871+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:39:48.308107+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic variants: 3-Methylglutaconic aciduria (MGCA7) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections. More than 10 unrelated families reported.\r\n\r\nMono-allelic variants: six unrelated individuals reported with de novo variants and neutropaenia, epilepsy, developmental issues, and 3-methylglutaconic aciduria.; to: Bi-allelic variants: 3-Methylglutaconic aciduria (MGCA7) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections. Microcephaly is a feature. More than 10 unrelated families reported.\r\n\r\nMono-allelic variants: six unrelated individuals reported with de novo variants and neutropaenia, epilepsy, developmental issues, and 3-methylglutaconic aciduria.",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2021-11-16T19:20:35.873214+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31155284; Phenotypes: Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541, Osteopetrosis, autosomal recessive 4, MIM# 611490; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-11-16T19:16:55.265079+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CKAP2L as ready",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2021-11-16T19:16:55.249828+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ckap2l has been classified as Green List (High Evidence).",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2021-11-16T18:34:56.420111+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNMT3B as ready",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-11-16T18:34:56.409506+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnmt3b has been classified as Green List (High Evidence).",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-11-16T18:34:52.153973+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNMT3B were changed from IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-11-16T18:34:40.411122+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNMT3B were set to ",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-11-16T18:34:18.827886+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-11-16T18:17:04.092241+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.517",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 11837609, 17893117,10647011,23486536; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-11-15T19:01:31.161603+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CKAP2L as ready",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2021-11-15T19:01:31.150714+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ckap2l has been classified as Green List (High Evidence).",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2021-11-15T19:01:25.482476+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CKAP2L were changed from to Filippi syndrome, MIM# 272440",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2021-11-15T19:01:03.939367+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CKAP2L were set to ",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2021-11-15T19:00:31.172422+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CKAP2L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2021-11-15T19:00:03.165311+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CKAP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439729, 33913579, 29473684; Phenotypes: Filippi syndrome, MIM# 272440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:59:26.837205+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CKAP2L as ready",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:59:26.823358+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ckap2l has been classified as Green List (High Evidence).",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:59:15.768498+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CKAP2L were changed from to Filippi syndrome, MIM# 272440",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:58:55.844835+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CKAP2L were set to ",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:58:38.372213+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CKAP2L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:58:20.210652+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CKAP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439729, 33913579, 29473684; Phenotypes: Filippi syndrome, MIM# 272440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:58:06.347208+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CKAP2L were changed from FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION to Filippi syndrome, MIM# 272440",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:57:49.670291+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CKAP2L were set to ",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:57:23.207776+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CKAP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439729, 33913579, 29473684; Phenotypes: Filippi syndrome, MIM# 272440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:54:08.442735+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: P3H1 as ready",
"entity_name": "P3H1",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:54:08.432028+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p3h1 has been classified as Green List (High Evidence).",
"entity_name": "P3H1",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:53:56.591006+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: P3H1 were changed from to Osteogenesis imperfecta, type VIII, MIM#\t610915",
"entity_name": "P3H1",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:53:24.576478+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: P3H1 were set to ",
"entity_name": "P3H1",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:53:02.280034+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: P3H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "P3H1",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:10:55.129680+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9753",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17277775, 19088120, 27864101, 33737016; Phenotypes: Osteogenesis imperfecta; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "P3H1",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:04:16.036903+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHUK as ready",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:04:16.026517+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chuk has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:04:12.665671+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHUK were changed from COCOON SYNDROME to Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339; Cocoon syndrome, MIM# 613630; AEC-like syndrome",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:04:01.846348+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHUK were set to ",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:01:49.398065+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHUK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:01:39.211906+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHUK as Amber List (moderate evidence)",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:01:39.201340+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chuk has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2021-11-15T18:01:01.292651+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHUK: Rating: AMBER; Mode of pathogenicity: None; Publications: 25691407, 20961246, 10195895, 10195896, 29523099, 28513979; Phenotypes: Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339, Cocoon syndrome, MIM# 613630, AEC-like syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:59:54.114593+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHSY1 as ready",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:59:54.104898+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chsy1 has been classified as Green List (High Evidence).",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:59:50.826019+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHSY1 were changed from TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME to Temtamy preaxial brachydactyly syndrome, MIM# 605282; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:59:23.813110+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHSY1 were set to ",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:58:50.642161+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHST3 as ready",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:58:50.631813+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst3 has been classified as Green List (High Evidence).",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:58:43.650489+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHST3 were changed from to Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:58:26.792654+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHST3 were set to ",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:58:08.525178+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHST3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:57:51.263254+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHST3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18513679; Phenotypes: Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:57:01.346943+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHST3 as ready",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:57:01.336130+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst3 has been classified as Green List (High Evidence).",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:56:57.439701+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHST3 were changed from SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS to Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:56:39.122361+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHST3 were set to ",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:53:57.633738+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL1RAPL1 as ready",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:53:57.619456+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il1rapl1 has been classified as Green List (High Evidence).",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:53:50.136171+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL1RAPL1 were changed from to Intellectual developmental disorder, X-linked 21 MIM#300143",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:53:32.127344+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL1RAPL1 were set to ",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:53:13.980445+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IL1RAPL1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:52:36.642419+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL1RAPL1 as ready",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:52:36.627404+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il1rapl1 has been classified as Green List (High Evidence).",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:52:28.064624+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL1RAPL1 were changed from to Intellectual developmental disorder, X-linked 21 MIM#300143",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:51:55.419057+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL1RAPL1 were set to ",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
}
]
}