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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=853",
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"results": [
{
"created": "2022-05-06T09:57:08.715729+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAPKAPK5 were changed from Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic to Neurocardiofaciodigital syndrome, MIM# 619869",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2022-05-06T09:56:36.121264+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAPKAPK5: Changed phenotypes: Neurocardiofaciodigital syndrome, MIM# 619869",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2022-05-06T09:56:16.310427+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAPKAPK5 were changed from Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic to Neurocardiofaciodigital syndrome, MIM# 619869",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2022-05-06T09:55:53.475866+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAPKAPK5: Changed phenotypes: Neurocardiofaciodigital syndrome, MIM# 619869",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2022-05-06T09:55:36.093987+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAPKAPK5 were changed from Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic to Neurocardiofaciodigital syndrome, MIM# 619869",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2022-05-06T09:55:03.430935+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAPKAPK5: Changed phenotypes: Neurocardiofaciodigital syndrome, MIM# 619869",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2022-05-06T09:54:47.211349+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAPKAPK5 as ready",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2022-05-06T09:54:47.197771+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapkapk5 has been classified as Green List (High Evidence).",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2022-05-06T09:54:42.299451+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAPKAPK5 were changed from Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic to Neurocardiofaciodigital syndrome, MIM# 619869",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2022-05-06T09:53:59.294581+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAPKAPK5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurocardiofaciodigital syndrome, MIM# 619869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2022-05-06T09:42:19.552987+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.167",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: KCNJ2 as ready",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2022-05-06T09:42:19.542425+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.167",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: kcnj2 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2022-05-06T09:42:17.167089+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.167",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: KCNJ2 as Green List (high evidence)",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2022-05-06T09:42:17.155681+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.167",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: kcnj2 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2022-05-06T09:41:45.538100+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.166",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: KCNJ2 was added\ngene: KCNJ2 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNJ2 were set to 20301441\nPhenotypes for gene: KCNJ2 were set to Andersen syndrome\tMIM#170390\nReview for gene: KCNJ2 was set to GREEN\ngene: KCNJ2 was marked as current diagnostic\nAdded comment: Established association.\r\n\r\nFrom Genereviews:\r\nAndersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and prolonged QT interval; and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. \nSources: Literature",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2022-05-06T09:35:48.748749+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13861",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: KCNJ2 were set to ",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2022-05-06T09:35:47.366793+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13861",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KCNJ2 was changed from Other to None",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2022-05-06T09:35:30.098527+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13860",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: KCNJ2: Changed publications: 24383070",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2022-05-06T09:35:21.541337+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13860",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: well-established association, including short QT, long QT, clefting disorders, myopathy adult onset, channelopathies. tenuous association for CPVT\r\n\r\nDominant-negative is the disease mechanism; to: well-established association, including short QT, long QT, clefting disorders, myopathy adult onset, channelopathies. tenuous association for CPVT\r\n\r\nDominant-negative and LoF is the disease mechanism for ATS and CPVT while GoF is the mechanism for short QT",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2022-05-06T08:27:30.897167+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCAF17 as ready",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2022-05-06T08:27:30.874148+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcaf17 has been classified as Green List (High Evidence).",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2022-05-06T08:27:25.972741+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DCAF17 as Green List (high evidence)",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2022-05-06T08:27:25.960152+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcaf17 has been classified as Green List (High Evidence).",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2022-05-06T08:26:53.194036+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCAF17 was added\ngene: DCAF17 was added to Deafness_IsolatedAndComplex. Sources: Expert Review\nMode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCAF17 were set to 19026396; 20507343; 35002959; 34877714; 34732557; 34590781\nPhenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, MIM# 241080\nReview for gene: DCAF17 was set to GREEN\nAdded comment: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder characterised by hypogonadism and ID. In Qatar, the c.436delC variant has been reported as a possible founder pathogenic variant. Multiple families from different backgrounds reported. In a cohort of 58 individuals from Qatar reported in PMID 3459078: ectodermal and endocrine (primary hypogonadism) manifestations were the most common presentations (100%), followed by diabetes mellitus (46%) and hypothyroidism (36%). Neurological manifestations were overlapping with intellectual disability (ID) being the most common (75%), followed by sensorineural hearing loss (43%) and both ID and aggressive behaviour (10%). \nSources: Expert Review",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2022-05-06T08:23:41.947952+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCAF17 as ready",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2022-05-06T08:23:41.936580+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcaf17 has been classified as Green List (High Evidence).",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2022-05-06T08:23:36.595617+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCAF17 were changed from to Woodhouse-Sakati syndrome, MIM# 241080",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2022-05-06T08:22:56.372539+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCAF17 were set to ",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2022-05-06T08:22:21.467784+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DCAF17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2022-05-06T08:21:43.064568+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCAF17 as ready",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2022-05-06T08:21:43.055447+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcaf17 has been classified as Green List (High Evidence).",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2022-05-06T08:21:36.738034+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: None; Publications: 19026396, 20507343, 35002959, 34877714, 34732557, 34590781; Phenotypes: Woodhouse-Sakati syndrome, MIM# 241080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2022-05-06T08:21:18.729622+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCAF17 were changed from to Woodhouse-Sakati syndrome, MIM# 241080",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2022-05-06T08:20:59.428418+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCAF17 were set to ",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2022-05-06T08:20:40.969801+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DCAF17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2022-05-06T08:20:07.568309+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: None; Publications: 19026396, 20507343, 35002959, 34877714, 34732557, 34590781; Phenotypes: Woodhouse-Sakati syndrome, MIM# 241080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:36:27.496047+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13857",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CYP2C19 as ready",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:36:27.486561+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13857",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cyp2c19 has been classified as Green List (High Evidence).",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:36:17.734630+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13857",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CYP2C19 were changed from to Voriconazole",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:36:17.702542+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13857",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CYP2C19 were set to ",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:35:57.142232+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13857",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYP2C19 was changed from Unknown to Other",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:35:15.541902+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13856",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CYP2C19: Rating: GREEN; Mode of pathogenicity: None; Publications: 27981572, 26616742, 31549386, 31549389; Phenotypes: Voriconazole; Mode of inheritance: Other; Current diagnostic: yes",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:31:48.872710+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13856",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CYP2B6 as ready",
"entity_name": "CYP2B6",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:31:48.861619+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13856",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cyp2b6 has been classified as Red List (Low Evidence).",
"entity_name": "CYP2B6",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:31:33.079627+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13856",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CYP2B6 were changed from to Efavirenz, poor metabolism of MIM#614546",
"entity_name": "CYP2B6",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:31:11.516622+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13855",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CYP2B6 as Red List (low evidence)",
"entity_name": "CYP2B6",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:31:11.506957+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13855",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cyp2b6 has been classified as Red List (Low Evidence).",
"entity_name": "CYP2B6",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:30:54.847960+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13854",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: No other Mendelian disease association found via punned; to: No other Mendelian disease association found via pubmed",
"entity_name": "CYP2B6",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:30:46.912695+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13854",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CYP2B6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Efavirenz, poor metabolism of MIM#614546; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "CYP2B6",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:30:32.196379+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DAZ4 as ready",
"entity_name": "DAZ4",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:30:32.187535+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: daz4 has been classified as Red List (Low Evidence).",
"entity_name": "DAZ4",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:29:46.332846+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DAZ4 as Red List (low evidence)",
"entity_name": "DAZ4",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:29:46.321658+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: daz4 has been classified as Red List (Low Evidence).",
"entity_name": "DAZ4",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:29:18.394899+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DAZ4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DAZ4",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:28:15.118931+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DAZ3 as ready",
"entity_name": "DAZ3",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:28:15.095115+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: daz3 has been classified as Red List (Low Evidence).",
"entity_name": "DAZ3",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:28:03.989305+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DAZ3 as Red List (low evidence)",
"entity_name": "DAZ3",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:28:03.970807+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: daz3 has been classified as Red List (Low Evidence).",
"entity_name": "DAZ3",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:27:49.565241+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13852",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CYP2A6 as ready",
"entity_name": "CYP2A6",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:27:49.553891+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13852",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cyp2a6 has been classified as Red List (Low Evidence).",
"entity_name": "CYP2A6",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:27:43.449775+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DAZ3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DAZ3",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:27:38.394138+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13852",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CYP2A6 were changed from to Coumarin resistance MIM#122700",
"entity_name": "CYP2A6",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:27:32.094793+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13852",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CYP2A6 as Red List (low evidence)",
"entity_name": "CYP2A6",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:27:32.084642+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13852",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cyp2a6 has been classified as Red List (Low Evidence).",
"entity_name": "CYP2A6",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:27:15.119454+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13851",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CYP2A6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coumarin resistance MIM#122700; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "CYP2A6",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:26:51.607969+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DAZ2 as ready",
"entity_name": "DAZ2",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:26:51.598829+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: daz2 has been classified as Red List (Low Evidence).",
"entity_name": "DAZ2",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:26:42.284483+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DAZ2 as Red List (low evidence)",
"entity_name": "DAZ2",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:26:42.273187+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: daz2 has been classified as Red List (Low Evidence).",
"entity_name": "DAZ2",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:26:18.694433+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DAZ2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DAZ2",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:25:22.471104+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DAZ1 as ready",
"entity_name": "DAZ1",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:25:22.456228+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: daz1 has been classified as Red List (Low Evidence).",
"entity_name": "DAZ1",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:25:08.671530+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DAZ1 as Red List (low evidence)",
"entity_name": "DAZ1",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:25:08.660525+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: daz1 has been classified as Red List (Low Evidence).",
"entity_name": "DAZ1",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:24:28.238336+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DAZ1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DAZ1",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:24:02.004444+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13849",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis MIM#213700; Disorders of bile acid biosynthesis to Cerebrotendinous xanthomatosis MIM#213700; Disorders of bile acid biosynthesis",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:24:00.979103+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13848",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CYP27A1 as ready",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:24:00.965382+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13848",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cyp27a1 has been classified as Green List (High Evidence).",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:23:28.517984+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13848",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis MIM#213700; Disorders of bile acid biosynthesis",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:23:15.262838+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13847",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CYP27A1 were set to ",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:23:10.699322+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13847",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYP27A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:22:25.529843+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DARS2 as ready",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:22:25.518916+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dars2 has been classified as Green List (High Evidence).",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:22:12.124537+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DARS2 were changed from to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:21:50.612216+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13845",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CYP26C1 as ready",
"entity_name": "CYP26C1",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:21:50.600627+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13845",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cyp26c1 has been classified as Green List (High Evidence).",
"entity_name": "CYP26C1",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:21:48.548627+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DARS2 were set to ",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:21:43.307419+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13845",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CYP26C1 were changed from to Focal facial dermal dysplasia 4 MIM#614974",
"entity_name": "CYP26C1",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:21:27.522703+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:21:04.339501+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Slowly progressive disorder with variable age of onset, multiple families reported.; to: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy (Scheper et al., 2007). Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline.",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:20:58.698734+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13843",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CYP26C1 were set to ",
"entity_name": "CYP26C1",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:20:53.663594+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13843",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYP26C1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP26C1",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:20:31.285015+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13842",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CYP26C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29263414, 23161670, 16530710; Phenotypes: Focal facial dermal dysplasia 4 MIM#614974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CYP26C1",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:20:13.363526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17384640, 15002045, 16788019; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:18:25.197284+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: D2HGDH as ready",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:18:25.182236+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: d2hgdh has been classified as Green List (High Evidence).",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:18:16.166296+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: D2HGDH were changed from to D-2-hydroxyglutaric aciduria MIM#600721",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:17:48.370938+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: D2HGDH were set to ",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:17:19.820365+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: D2HGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2022-05-05T20:16:48.791411+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: D2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 31349060, 15609246, 20020533; Phenotypes: D-2-hydroxyglutaric aciduria MIM#600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "D2HGDH",
"entity_type": "gene"
}
]
}