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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1123",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1121",
"results": [
{
"created": "2021-11-22T15:27:51.678074+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRLF1 as ready",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:27:51.667870+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crlf1 has been classified as Green List (High Evidence).",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:27:45.292132+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRLF1 were changed from Cold-induced sweating syndrome 1 272430 to Cold-induced sweating syndrome 1, MIM#272430",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:27:33.626768+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRLF1 were set to ",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:27:17.741140+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:27:13.826169+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CRLF1: Added comment: Micrognathia, camptodactyly are features.\r\n\r\nCrisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis.\r\n\r\nMultiple unrelated families reported.; Changed rating: GREEN; Changed publications: 12509788, 17436251, 17436252",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:18:00.460480+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.610",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25893599, 26342108, 25848748; Phenotypes: Dyskeratosis congenita, autosomal recessive 6, MIM# 616353, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:16:02.389903+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CREBBP as ready",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:16:02.378952+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crebbp has been classified as Green List (High Evidence).",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:15:47.454557+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CREBBP were changed from RUBINSTEIN-TAYBI SYNDROME TYPE 1; CREBBP intellectual disability without typical RTS features to Rubinstein-Taybi syndrome 1, MIM# 180849; Menke-Hennekam syndrome 1, MIM# 618332",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:15:35.337242+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CREBBP were set to ",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:15:22.367659+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association with RTS, deletions reasonably frequent. Menke-Hennekam syndrome-1 (MKHK1) is an allelic disorder caused by heterozygous variants in exon 30 or 31 of the CREBBP gene, and characterised by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, hearing impairment, short stature, and microcephaly are also frequently seen. Over 20 individuals reported.; to: Well established gene-disease association with RTS, deletions reasonably frequent. Microcephaly is a feature.\r\n\r\nMenke-Hennekam syndrome-1 (MKHK1) is an allelic disorder caused by heterozygous variants in exon 30 or 31 of the CREBBP gene, and characterised by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, hearing impairment, short stature, and microcephaly are also frequently seen. Over 20 individuals reported.",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:14:31.969894+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRB2 as ready",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:14:31.958787+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crb2 has been classified as Green List (High Evidence).",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:14:28.281229+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRB2 were changed from to Ventriculomegaly with cystic kidney disease, MIM# 219730",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:13:52.495652+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRB2 were set to ",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:13:21.052467+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:12:38.187365+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25557780, 33687977, 32051522, 30212996, 33575434, 31438467, 30593785; Phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:11:09.019947+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRB2 as ready",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:11:09.009226+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crb2 has been classified as Green List (High Evidence).",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:11:04.423211+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRB2 were changed from VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE to Ventriculomegaly with cystic kidney disease, MIM# 219730",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:10:53.028748+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRB2 were set to ",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:10:22.848104+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPT2 as ready",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:10:22.837879+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpt2 has been classified as Green List (High Evidence).",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:10:15.389607+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CPT2 were changed from to CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:09:57.100044+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CPT2 were set to ",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:09:29.480007+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:09:10.379215+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11477613, 12410208, 8651281, 12410208, 8358442; Phenotypes: CPT II deficiency, infantile 600649, CPT II deficiency, lethal neonatal 608836, CPT II deficiency, myopathic, stress-induced 255110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:05:27.853547+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPT2 as ready",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:05:27.843560+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpt2 has been classified as Green List (High Evidence).",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:05:20.900823+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CPT2 were changed from Myopathy due to CPT II deficiency 255110; CPT II deficiency, lethal neonatal 608836; CPT deficiency, hepatic, type II 600649 to CPT II deficiency, lethal neonatal, MIM# 608836",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:05:07.507632+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CPT2 were set to ",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:04:53.310197+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. There is a spectrum of severity.\r\n\r\nThe most severe, neonatal form presents shortly after birth with respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects.\r\n\r\nSome features such as microcephaly and polycystic kidneys may be detectable antenatally.; to: Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. There is a spectrum of severity.\r\n\r\nThe most severe, neonatal form presents shortly after birth with respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects.\r\n\r\nSome features such as microcephaly and polycystic kidneys may be detectable antenatally.\r\n\r\nWell established gene-disease association, multiple families reported.",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:04:36.733935+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CPT2: Changed publications: 11477613, 12410208",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:03:57.891471+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPT II deficiency, lethal neonatal, MIM# 608836; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:01:39.070745+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX7B as ready",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:01:39.059483+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox7b has been classified as Green List (High Evidence).",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:01:28.484747+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX7B were changed from to Linear skin defects with multiple congenital anomalies 2, MIM#300887",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2021-11-22T13:01:03.687058+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX7B were set to ",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:57:57.697873+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX7B was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:57:39.667461+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: None; Publications: 23122588; Phenotypes: Linear skin defects with multiple congenital anomalies 2, MIM#300887; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:56:49.234474+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX7B as ready",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:56:49.224331+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox7b has been classified as Green List (High Evidence).",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:56:05.326755+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX7B were changed from MICROPHTHALMIA WITH LINEAR SKIN LESIONS to Linear skin defects with multiple congenital anomalies 2, MIM#300887",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:55:52.407650+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX7B were set to ",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:55:39.271060+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single report of 4 affected individuals in 2012, of whom only two had dev delay/ID.; to: Single report of 4 affected individuals in 2012, multiple congenital anomalies. XLD.",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:55:20.418616+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COX7B: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:55:07.525849+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COX7B: Changed rating: GREEN",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:54:09.510103+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ9 as ready",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:54:09.494399+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq9 has been classified as Green List (High Evidence).",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:54:02.048298+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ9 were changed from COENZYME Q10 DEFICIENCY to Coenzyme Q10 deficiency, primary, 5, MIM#614654",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:53:50.030621+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ9 were set to 30712880",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:53:34.371978+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:53:30.760440+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:53:23.871457+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COQ9: Added comment: At least 3 families and an animal model. Severe perinatal disorder.\r\n\r\nSome had IUGR/HCM.; Changed publications: 19375058, 26081641, 23255162, 31821167",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:51:52.886655+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COQ9: Changed rating: GREEN",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:50:21.685846+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ4 as ready",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:50:21.675444+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq4 has been classified as Green List (High Evidence).",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:50:21.228620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9785",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: IRF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301581; Phenotypes: Popliteal pterygium syndrome 1MIM#119500, van der Woude syndrome MIM#119300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:50:17.464530+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COQ4 as Green List (high evidence)",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:50:17.454860+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq4 has been classified as Green List (High Evidence).",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:50:07.735990+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COQ4 was added\ngene: COQ4 was added to Cardiomyopathy_Paediatric. Sources: Expert Review\nMode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ4 were set to 25658047; 26185144; 33704555\nPhenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, MIM# 616276\nReview for gene: COQ4 was set to GREEN\nAdded comment: Primary coenzyme Q10 deficiency-7 (COQ10D7) is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth. HCM reported in multiple individuals. At least 9 unrelated families reported. \nSources: Expert Review",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:48:57.641410+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.599",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: IRF6: Changed publications: 20301581",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:48:57.146810+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ4 as ready",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:48:57.137128+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq4 has been classified as Green List (High Evidence).",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:48:43.229264+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ4 were changed from to Coenzyme Q10 deficiency, primary, 7, MIM# 616276",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:48:33.167714+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9785",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MATN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31724101, 32025536, 11968079, 14729835; Phenotypes: Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MIM#608728), Epiphyseal dysplasia, multiple, 5 (MIM#607078); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "MATN3",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:48:05.985969+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ4 were set to 25658047; 26185144; 33704555",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:47:40.236572+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ4 were set to ",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:46:55.861236+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:46:36.050847+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9785",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: INPPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23273567, 34529350, 34094554; Phenotypes: Opsismodysplasia MIM#258480; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "INPPL1",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:46:21.208057+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25658047, 26185144, 33704555; Phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:45:43.906278+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9785",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 30160832, 34643041; Phenotypes: Ayme-Gripp syndrome (MIM#601088); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAF",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:45:29.461886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ4 as ready",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:45:29.449592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq4 has been classified as Green List (High Evidence).",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:45:21.379905+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ4 were changed from to Coenzyme Q10 deficiency, primary, 7, MIM# 616276",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:45:01.186314+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ4 were set to ",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:44:41.412269+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:44:25.298308+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25658047, 26185144, 33704555; Phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:43:57.747980+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ4 as ready",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:43:57.735554+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq4 has been classified as Green List (High Evidence).",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:43:52.986105+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ4 were changed from COENZYME Q10 DEFICIENCY, PRIMARY, 7 to Coenzyme Q10 deficiency, primary, 7, MIM# 616276",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:43:34.811571+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ4 were set to ",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:43:11.058546+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25658047, 26185144, 33704555; Phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:41:55.221242+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9782",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23636941, 23664847, 30041615, 20381006; Phenotypes: Cenani-Lenz syndactyly syndrome (MIM#212780); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:40:09.783025+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COLEC11 as ready",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:40:09.769855+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: colec11 has been classified as Green List (High Evidence).",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:40:05.845607+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COLEC11 were changed from to 3MC syndrome 2, MIM# 265050",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:39:38.953783+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COLEC11 were set to ",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:39:16.441891+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COLEC11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:38:40.940404+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COLEC11: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258343, 26789649, 28301481; Phenotypes: 3MC syndrome 2, MIM# 265050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:37:59.583782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COLEC11 as ready",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:37:59.574179+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: colec11 has been classified as Green List (High Evidence).",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:37:52.071188+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COLEC11 were changed from to 3MC syndrome 2, MIM# 265050",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:37:33.666948+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COLEC11 were set to ",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:37:10.455256+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COLEC11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:36:51.739666+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COLEC11: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258343, 26789649, 28301481; Phenotypes: 3MC syndrome 2, MIM# 265050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:35:43.970970+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COLEC11 as ready",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:35:43.960245+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: colec11 has been classified as Green List (High Evidence).",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:35:37.806580+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COLEC11 were changed from 3MC SYNDROME 2 to 3MC syndrome 2, MIM# 265050",
"entity_name": "COLEC11",
"entity_type": "gene"
}
]
}