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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1691",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1689",
"results": [
{
"created": "2020-08-03T16:16:25.715597+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRYAB were changed from to Cardiomyopathy, dilated, 1II, MIM#615184",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:15:57.942426+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRYAB were set to ",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:15:31.110313+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRYAB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:15:10.731619+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRYAB as Red List (low evidence)",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:15:10.721212+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cryab has been classified as Red List (Low Evidence).",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:13:41.889302+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDH2 as ready",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:13:41.878059+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdh2 has been classified as Red List (Low Evidence).",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:13:36.754356+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDH2 as Red List (low evidence)",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:13:36.744255+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdh2 has been classified as Red List (Low Evidence).",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:12:14.720429+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTN2 as ready",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:12:14.708599+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:12:10.684937+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTN2 as Amber List (moderate evidence)",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:12:10.676719+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:07:47.742802+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AHR as ready",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:07:47.738578+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Not sure if the second reported family really has RP phenotype.",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:07:47.710172+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahr has been classified as Amber List (Moderate Evidence).",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:05:33.420164+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRY1 as ready",
"entity_name": "CRY1",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:05:33.409749+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cry1 has been classified as Green List (High Evidence).",
"entity_name": "CRY1",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:05:06.784299+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRY1 as Green List (high evidence)",
"entity_name": "CRY1",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:05:06.775843+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cry1 has been classified as Green List (High Evidence).",
"entity_name": "CRY1",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:04:11.100711+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.455",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: HPDL was added\ngene: HPDL was added to Mitochondrial disease. Sources: Expert Review\nMode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPDL were set to 32707086\nPhenotypes for gene: HPDL were set to Progressive neurological disorder\nReview for gene: HPDL was set to GREEN\nAdded comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia \nSources: Expert Review",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:03:56.632195+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXL7 as ready",
"entity_name": "FBXL7",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:03:56.623879+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxl7 has been classified as Red List (Low Evidence).",
"entity_name": "FBXL7",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:03:46.551003+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXL7 were changed from Hennekam lymphangiectasia-lymphedema syndrome; lymphedema; protein‐losing enteropathy; dental anomalies; camptodactyly; microtia; small auditory canals; ductive hearing loss; middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae. to Hennekam lymphangiectasia-lymphedema syndrome",
"entity_name": "FBXL7",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:03:24.623308+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2811",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: HPDL was added\ngene: HPDL was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPDL were set to 32707086\nPhenotypes for gene: HPDL were set to Progressive neurological disorder\nReview for gene: HPDL was set to GREEN\nAdded comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia \nSources: Expert Review",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:03:14.652679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXL7 as Red List (low evidence)",
"entity_name": "FBXL7",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:03:14.643251+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxl7 has been classified as Red List (Low Evidence).",
"entity_name": "FBXL7",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:02:50.061216+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.127",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: HPDL was added\ngene: HPDL was added to Regression. Sources: Expert Review\nMode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPDL were set to 32707086\nPhenotypes for gene: HPDL were set to Progressive neurological disorder\nReview for gene: HPDL was set to GREEN\nAdded comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia \nSources: Expert Review",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:02:16.544519+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPDL were changed from Progressive neurological disorder to Progressive neurological disorder; Leigh-like syndrome",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:01:17.170273+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.59",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: 31896775; Phenotypes: foveal hypoplasia and infantile nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:01:16.207468+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3653",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: CRY1 was added\ngene: CRY1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CRY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CRY1 were set to PMID: 28388406; PMID: 32538895\nPhenotypes for gene: CRY1 were set to Attention deficit/hyperactivity disorder (ADHD); Delayed sleep phase disorder (DSPD),\nPenetrance for gene: CRY1 were set to Incomplete\nReview for gene: CRY1 was set to GREEN\ngene: CRY1 was marked as current diagnostic\nAdded comment: - Splice variants identified in 7 families with ADHD and DSPD\r\n- Gain of function suggested for CRY1Δ11 (PMID: 28388406)\r\n- Loss of function suggested for CRY1Δ6 (HEK293T cells transfected with a Per1::Luc reporter plasmid showed reduced repressor activity compared to WT and CRY1Δ11) \nSources: Literature",
"entity_name": "CRY1",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:00:51.647468+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPDL as ready",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:00:51.637182+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpdl has been classified as Green List (High Evidence).",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:00:42.989134+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2811",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: PIGP were set to 28334793; 31139695",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:00:39.763079+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPDL were changed from Neurological disorder to Progressive neurological disorder",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:00:11.532480+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2810",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: PIGP as Green List (high evidence)",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:00:11.523733+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2810",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pigp has been classified as Green List (High Evidence).",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:00:09.741878+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HPDL as Green List (high evidence)",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T16:00:09.730052+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpdl has been classified as Green List (High Evidence).",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:59:38.480680+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2809",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32042915; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:58:58.246332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NCKAP1L as ready",
"entity_name": "NCKAP1L",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:58:58.236136+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nckap1l has been classified as Green List (High Evidence).",
"entity_name": "NCKAP1L",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:58:39.884945+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3651",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: PIGP were set to 31139695",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:58:35.056500+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NCKAP1L as Green List (high evidence)",
"entity_name": "NCKAP1L",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:58:35.029325+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nckap1l has been classified as Green List (High Evidence).",
"entity_name": "NCKAP1L",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:57:58.604611+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3650",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: PIGP as Green List (high evidence)",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:57:58.594699+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3650",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pigp has been classified as Green List (High Evidence).",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:57:50.184404+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYLPF as ready",
"entity_name": "MYLPF",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:57:50.179830+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Two variants each for the bi-allelic and the mono-allelic gene-disease associations.",
"entity_name": "MYLPF",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:57:50.145306+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mylpf has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYLPF",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:57:36.943141+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3649",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32042915; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:57:35.436336+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYLPF as Amber List (moderate evidence)",
"entity_name": "MYLPF",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:57:35.426476+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mylpf has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYLPF",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:57:23.218877+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3648",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "changed review comment from: Homozygous deletion of exon 3 of FBXL7 (predicted to be in-frame) in a 2-year old with novel form of Hennekam syndrome. Each parent was heterozygous. \r\nPatient had lymphedema, protein‐losing enteropathy, dental anomalies, camptodactyly, microtia, small auditory canals, ductive hearing loss, middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae. \nSources: Literature; to: Homozygous deletion of exon 3 of FBXL7 (predicted to be in-frame) in a 2-year old with novel form of Hennekam syndrome. Each parent was heterozygous. \r\nPatient had lymphedema, protein‐losing enteropathy, dental anomalies, camptodactyly, microtia, small auditory canals, ductive hearing loss, middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae. \r\nSources: Literature",
"entity_name": "FBXL7",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:57:12.601510+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYLPF as ready",
"entity_name": "MYLPF",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:57:12.596869+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Two variants each for bi-allelic and mono-allelic gene-disease association.",
"entity_name": "MYLPF",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:57:12.560693+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mylpf has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYLPF",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:56:43.232795+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYLPF as Amber List (moderate evidence)",
"entity_name": "MYLPF",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:56:43.224733+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mylpf has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYLPF",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:56:17.031539+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYLPF as Green List (high evidence)",
"entity_name": "MYLPF",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:56:17.013651+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mylpf has been classified as Green List (High Evidence).",
"entity_name": "MYLPF",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:55:23.646991+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.769",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: SCAF4 was added\ngene: SCAF4 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SCAF4 were set to 32730804\nPhenotypes for gene: SCAF4 were set to Mild intellectual disability; seizures; behavioral abnormalities\nReview for gene: SCAF4 was set to GREEN\nAdded comment: > 5 variants reported in individuals with variable neurodevelopmental disorder characterized by mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies. \nSources: Expert Review",
"entity_name": "SCAF4",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:54:33.264525+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCAF4 as ready",
"entity_name": "SCAF4",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:54:33.254889+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scaf4 has been classified as Green List (High Evidence).",
"entity_name": "SCAF4",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:54:28.139792+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCAF4 as Green List (high evidence)",
"entity_name": "SCAF4",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:54:28.131832+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scaf4 has been classified as Green List (High Evidence).",
"entity_name": "SCAF4",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:53:52.001874+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCAF4 as ready",
"entity_name": "SCAF4",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:53:51.993776+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scaf4 has been classified as Green List (High Evidence).",
"entity_name": "SCAF4",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:53:42.560584+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCAF4 as Green List (high evidence)",
"entity_name": "SCAF4",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:53:42.549419+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scaf4 has been classified as Green List (High Evidence).",
"entity_name": "SCAF4",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:51:52.109806+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PJA1 as ready",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:51:52.100641+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pja1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:51:47.494849+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PJA1 as Amber List (moderate evidence)",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:51:47.484728+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pja1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:51:12.021801+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PJA1 was added\ngene: PJA1 was added to Craniosynostosis. Sources: Literature\nfounder tags were added to gene: PJA1.\nMode of inheritance for gene: PJA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PJA1 were set to 32530565\nPhenotypes for gene: PJA1 were set to Intellectual disability; trigonocephaly\nReview for gene: PJA1 was set to AMBER\nAdded comment: Recurrent variant, p.Arg376Cys, reported in 7 Japanese individuals, supportive mouse model. Individuals shared a common haplotype, suggestive of founder effect. \nSources: Literature",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:50:42.253078+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3647",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "gene: FBXL7 was added\ngene: FBXL7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FBXL7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FBXL7 were set to PMID: 31633297\nPhenotypes for gene: FBXL7 were set to Hennekam lymphangiectasia-lymphedema syndrome; lymphedema; protein‐losing enteropathy; dental anomalies; camptodactyly; microtia; small auditory canals; ductive hearing loss; middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae.\nReview for gene: FBXL7 was set to AMBER\nAdded comment: Homozygous deletion of exon 3 of FBXL7 (predicted to be in-frame) in a 2-year old with novel form of Hennekam syndrome. Each parent was heterozygous. \r\nPatient had lymphedema, protein‐losing enteropathy, dental anomalies, camptodactyly, microtia, small auditory canals, ductive hearing loss, middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae. \nSources: Literature",
"entity_name": "FBXL7",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:49:45.527217+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PJA1 as ready",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:49:45.510762+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pja1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:49:37.432183+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3647",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: HPDL was added\ngene: HPDL was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPDL were set to 32707086\nPhenotypes for gene: HPDL were set to Neurological disorder\nReview for gene: HPDL was set to GREEN\nAdded comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia \nSources: Expert Review",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:49:32.656019+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PJA1 as Amber List (moderate evidence)",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:49:32.645094+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pja1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:49:15.050792+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: PJA1.",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:49:14.645550+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PJA1 was added\ngene: PJA1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PJA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PJA1 were set to 32530565\nPhenotypes for gene: PJA1 were set to Intellectual disability; trigonocephaly\nReview for gene: PJA1 was set to AMBER\nAdded comment: Recurrent variant, p.Arg376Cys, reported in 7 Japanese individuals, supportive mouse model. Individuals shared a common haplotype, suggestive of founder effect \nSources: Literature",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:48:11.197680+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PJA1 as ready",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:48:11.183039+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pja1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:48:05.542768+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PJA1 as Amber List (moderate evidence)",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:48:05.534613+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pja1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:47:41.370755+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PJA1 was added\ngene: PJA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PJA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PJA1 were set to 32530565\nPhenotypes for gene: PJA1 were set to Intellectual disability; trigonocephaly\nReview for gene: PJA1 was set to AMBER\nAdded comment: Recurrent variant, p.Arg376Cys, reported in 7 Japanese individuals, supportive mouse model. Individuals shared a common haplotype, suggestive of founder effect. \nSources: Literature",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:44:13.222035+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3645",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: MYLPF was added\ngene: MYLPF was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: MYLPF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MYLPF were set to 32707087\nPhenotypes for gene: MYLPF were set to Distal arthrogryoposis\nReview for gene: MYLPF was set to GREEN\nAdded comment: 2 different homozygous variants reported in 6 consanguineous families with DA and an additional 2 different dominantly inherited variants in 2 families, with supporting animal model. \nSources: Expert Review",
"entity_name": "MYLPF",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:44:10.093687+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3645",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: NCKAP1L was added\ngene: NCKAP1L was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NCKAP1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NCKAP1L were set to 32647003\nPhenotypes for gene: NCKAP1L were set to Immunodeficiency\nReview for gene: NCKAP1L was set to GREEN\nAdded comment: 5 patients from 4 families with recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis. Functional of the 4 missense reported were performed. \nSources: Literature",
"entity_name": "NCKAP1L",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:43:05.539902+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.769",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: PIGP were set to 28334793; 31139695",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:42:46.295272+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.197",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: MYLPF was added\ngene: MYLPF was added to Arthrogryposis. Sources: Expert Review\nMode of inheritance for gene: MYLPF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MYLPF were set to 32707087\nPhenotypes for gene: MYLPF were set to Distal arthrogryoposis\nReview for gene: MYLPF was set to GREEN\nAdded comment: 2 different homozygous variants reported in 6 consanguineous families with DA and an additional 2 different dominantly inherited variants in 2 families, with supporting animal model. \nSources: Expert Review",
"entity_name": "MYLPF",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:42:18.588554+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.768",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: PIGP as Green List (high evidence)",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:42:18.578786+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.768",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pigp has been classified as Green List (High Evidence).",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:41:22.603686+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.767",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32042915; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:35:33.767970+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCF2 as ready",
"entity_name": "MCF2",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:35:33.756412+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcf2 has been classified as Red List (Low Evidence).",
"entity_name": "MCF2",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:35:22.197185+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCF2 was added\ngene: MCF2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MCF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MCF2 were set to 31846234\nPhenotypes for gene: MCF2 were set to Perisylvian polymicrogyria\nReview for gene: MCF2 was set to RED\nAdded comment: Single individual reported, inherited missense variant from unaffected mother, some support from mouse model. \nSources: Literature",
"entity_name": "MCF2",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:33:37.987108+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCF2 as ready",
"entity_name": "MCF2",
"entity_type": "gene"
},
{
"created": "2020-08-03T15:33:37.978964+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcf2 has been classified as Red List (Low Evidence).",
"entity_name": "MCF2",
"entity_type": "gene"
}
]
}