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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1900",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1898",
"results": [
{
"created": "2020-03-20T09:33:56.229247+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.210",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM65 was added\ngene: TMEM65 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: TMEM65 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM65 were set to 28295037\nPhenotypes for gene: TMEM65 were set to Mitochondrial encephalomyopathy\nAdded comment: One homozygous case with a mitochondrial encephalomyopathy and functional assays showing the protein is important for mitochondrial respiration and mtDNA copy number maintenance. Currently no OMIM or Gene2Phenotype phenotype entries. \nSources: NHS GMS",
"entity_name": "TMEM65",
"entity_type": "gene"
},
{
"created": "2020-03-19T20:22:05.881011+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX6A2 as ready",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2020-03-19T20:22:05.867238+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox6a2 has been classified as Green List (High Evidence).",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2020-03-19T20:21:50.299410+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX6A2 as Green List (high evidence)",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2020-03-19T20:21:50.285964+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox6a2 has been classified as Green List (High Evidence).",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2020-03-19T20:21:32.111987+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COX6A2 was added\ngene: COX6A2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: COX6A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX6A2 were set to 31155743; 23460811\nPhenotypes for gene: COX6A2 were set to Mitochondrial complex IV deficiency, MIM# 220110\nReview for gene: COX6A2 was set to GREEN\nAdded comment: Two unrelated families and two mouse models. \nSources: Expert list",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2020-03-19T20:19:20.416800+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX6A2 as Green List (high evidence)",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2020-03-19T20:19:20.406029+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox6a2 has been classified as Green List (High Evidence).",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2020-03-19T20:19:13.986195+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX6A2 as ready",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2020-03-19T20:19:13.972677+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox6a2 has been classified as Green List (High Evidence).",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2020-03-19T20:19:01.248158+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX6A2 as Green List (high evidence)",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2020-03-19T20:19:01.238162+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox6a2 has been classified as Green List (High Evidence).",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2020-03-19T20:18:25.486616+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COX6A2 was added\ngene: COX6A2 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: COX6A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX6A2 were set to 31155743; 23460811\nPhenotypes for gene: COX6A2 were set to Mitochondrial complex IV deficiency, MIM# 220110\nReview for gene: COX6A2 was set to GREEN\nAdded comment: Two unrelated families and two mouse models. \nSources: Expert list",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2020-03-19T16:11:02.440002+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: USMG5 as Amber List (moderate evidence)",
"entity_name": "USMG5",
"entity_type": "gene"
},
{
"created": "2020-03-19T16:11:02.435099+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Currently only one potential Ashkenazi Jewish founder reported so far.",
"entity_name": "USMG5",
"entity_type": "gene"
},
{
"created": "2020-03-19T16:11:02.404634+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: usmg5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "USMG5",
"entity_type": "gene"
},
{
"created": "2020-03-19T16:10:43.509608+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: USMG5 as Amber List (moderate evidence)",
"entity_name": "USMG5",
"entity_type": "gene"
},
{
"created": "2020-03-19T16:10:43.501421+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Currently only one potential Ashkenazi Jewish founder reported so far.",
"entity_name": "USMG5",
"entity_type": "gene"
},
{
"created": "2020-03-19T16:10:43.474925+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: usmg5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "USMG5",
"entity_type": "gene"
},
{
"created": "2020-03-19T16:09:36.832930+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.206",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: USMG5 was added\ngene: USMG5 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: USMG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USMG5 were set to 29917077; 30240627\nPhenotypes for gene: USMG5 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683\nReview for gene: USMG5 was set to AMBER\nAdded comment: A homozygous splice site mutation in 4 patients from 3 unrelated families of Ashkenazi Jewish descent. Experimental analyses demonstrated that the splice variant leads to loss of protein expression and haplotype analysis suggested a founder effect. In situ cryo-ET analysis of the mitochondria of a homozygous affected case showed profound disturbances of mitochondrial crista ultrastructure. \nSources: NHS GMS",
"entity_name": "USMG5",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:38:44.508181+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APTX as ready",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:38:44.499125+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aptx has been classified as Green List (High Evidence).",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:38:07.054652+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COA7 as ready",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:38:07.046181+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coa7 has been classified as Green List (High Evidence).",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:37:32.350568+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ7 as ready",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:37:32.341777+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq7 has been classified as Green List (High Evidence).",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:36:52.146416+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETFDH as ready",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:36:52.136603+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etfdh has been classified as Green List (High Evidence).",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:36:23.028130+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRPS34 as ready",
"entity_name": "MRPS34",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:36:23.014674+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps34 has been classified as Green List (High Evidence).",
"entity_name": "MRPS34",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:35:38.342872+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP5A1 as ready",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:35:38.334321+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:35:35.344837+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP5A1 were changed from to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:35:12.885315+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP5A1 were set to ",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:34:21.340302+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TARS2 as ready",
"entity_name": "TARS2",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:34:21.331735+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tars2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TARS2",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:33:51.993886+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP5E as ready",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:33:51.980412+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5e has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:33:48.118712+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP5E were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:33:26.045702+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP5E were set to ",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:33:02.719361+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:28:58.970158+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-18T20:25:04.722425+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YME1L1 as ready",
"entity_name": "YME1L1",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:25:04.713729+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yme1l1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "YME1L1",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:24:55.326295+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YME1L1 as Amber List (moderate evidence)",
"entity_name": "YME1L1",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:24:55.312724+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yme1l1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "YME1L1",
"entity_type": "gene"
},
{
"created": "2020-03-18T20:24:36.436615+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YME1L1 was added\ngene: YME1L1 was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: YME1L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YME1L1 were set to 30544562; 27495975\nPhenotypes for gene: YME1L1 were set to Optic atrophy 11, MIM#617302\nReview for gene: YME1L1 was set to AMBER\nAdded comment: One consanguineous family with a homozygous variant and functional assays. YME1L leads to mitochondrial fragmentation and severely disorganized and attenuated cristae architecture in in vitro functional assays. \nSources: NHS GMS",
"entity_name": "YME1L1",
"entity_type": "gene"
},
{
"created": "2020-03-18T18:03:46.040046+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ5 as ready",
"entity_name": "COQ5",
"entity_type": "gene"
},
{
"created": "2020-03-18T18:03:46.030919+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq5 has been classified as Red List (Low Evidence).",
"entity_name": "COQ5",
"entity_type": "gene"
},
{
"created": "2020-03-18T18:03:08.416807+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COQ5 was added\ngene: COQ5 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ5 were set to 29044765\nPhenotypes for gene: COQ5 were set to Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability\nReview for gene: COQ5 was set to RED\nAdded comment: Three siblings reported, bi-allelic duplications in gene, said to lead to reduced CoQ10. \nSources: Expert list",
"entity_name": "COQ5",
"entity_type": "gene"
},
{
"created": "2020-03-18T17:51:17.745552+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CEP89: Changed rating: RED",
"entity_name": "CEP89",
"entity_type": "gene"
},
{
"created": "2020-03-18T17:15:14.688623+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.198",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: YME1L1 as Amber List (moderate evidence)",
"entity_name": "YME1L1",
"entity_type": "gene"
},
{
"created": "2020-03-18T17:15:14.677607+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.198",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: yme1l1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "YME1L1",
"entity_type": "gene"
},
{
"created": "2020-03-18T17:14:55.496723+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.198",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: YME1L1 as Amber List (moderate evidence)",
"entity_name": "YME1L1",
"entity_type": "gene"
},
{
"created": "2020-03-18T17:14:55.487166+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.198",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: yme1l1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "YME1L1",
"entity_type": "gene"
},
{
"created": "2020-03-18T17:14:39.921266+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.197",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: YME1L1 as ready",
"entity_name": "YME1L1",
"entity_type": "gene"
},
{
"created": "2020-03-18T17:14:39.908355+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.197",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: yme1l1 has been classified as Red List (Low Evidence).",
"entity_name": "YME1L1",
"entity_type": "gene"
},
{
"created": "2020-03-18T17:14:17.262557+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.197",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: YME1L1 was added\ngene: YME1L1 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: YME1L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YME1L1 were set to 30544562; 27495975\nPhenotypes for gene: YME1L1 were set to Optic atrophy 11 MIM#617302\nReview for gene: YME1L1 was set to AMBER\nAdded comment: One consanguineous family with a homozygous variant and functional assays. YME1L leads to mitochondrial fragmentation and severely disorganized and attenuated cristae architecture in in vitro functional assays. \nSources: NHS GMS",
"entity_name": "YME1L1",
"entity_type": "gene"
},
{
"created": "2020-03-18T16:37:54.104804+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1767",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:ANXA11 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-18T16:32:56.833096+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1766",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ANXA11 was added\ngene: ANXA11 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANXA11 were set to 28469040; 29845112; 30109997\nPhenotypes for gene: ANXA11 were set to Amytrophic lateral sclerosis 23 MIM#617839\nReview for gene: ANXA11 was set to GREEN\nAdded comment: 4 different missense variants in 10 patients from 7 unrelated families with amyotrophic lateral sclerosis and functional assays supporting association. \nSources: Expert list",
"entity_name": "ANXA11",
"entity_type": "gene"
},
{
"created": "2020-03-18T16:31:30.436220+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ANXA11 was added\ngene: ANXA11 was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANXA11 were set to 28469040; 29845112; 30109997\nPhenotypes for gene: ANXA11 were set to Amytrophic lateral sclerosis 23 MIM#617839\nReview for gene: ANXA11 was set to GREEN\nAdded comment: 4 different missense variants in 10 patients from 7 unrelated families with amyotrophic lateral sclerosis and functional assays supporting association. \nSources: Expert list",
"entity_name": "ANXA11",
"entity_type": "gene"
},
{
"created": "2020-03-18T16:00:29.311184+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AIFM1 as Red List (low evidence)",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-03-18T16:00:29.307069+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Motor neuron degeneration is not a prominent feature of the condition. Only one case reported.",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-03-18T16:00:29.283960+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aifm1 has been classified as Red List (Low Evidence).",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:46:01.023822+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLOD3 as ready",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:46:01.014174+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plod3 has been classified as Green List (High Evidence).",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:45:56.548800+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLOD3 as Green List (high evidence)",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:45:56.538559+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plod3 has been classified as Green List (High Evidence).",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:41:23.447892+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.328",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "gene: PLOD3 was added\ngene: PLOD3 was added to Deafness. Sources: Literature\nMode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLOD3 were set to 18834968; 31129566\nPhenotypes for gene: PLOD3 were set to Sensorineural deafness\nPenetrance for gene: PLOD3 were set to unknown\nReview for gene: PLOD3 was set to GREEN\nAdded comment: This gene has a complex phenotype that includes features of a connective tissue disorder; 3/5 described unrelated families have sensorineural deafness as a feature (PMID as above plus an abstract from 2013 ESHG by Steichen-Gersdorf et al). At least one proband has required cochlear implantation. \nSources: Literature",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:29:02.073819+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLOD3 as ready",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:29:02.050584+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plod3 has been classified as Green List (High Evidence).",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:28:58.198432+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLOD3 as Green List (high evidence)",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:28:58.189829+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plod3 has been classified as Green List (High Evidence).",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:28:30.042602+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLOD3 as ready",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:28:30.038016+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Borderline Green, unclear at present what proportion of affected individuals will have cataract as part of the phenotype.",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:28:29.996602+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plod3 has been classified as Green List (High Evidence).",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:28:04.239191+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLOD3 as Green List (high evidence)",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:28:04.225507+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plod3 has been classified as Green List (High Evidence).",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:27:07.433881+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLOD3 as ready",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:27:07.429888+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Agree, at present unclear what proportion of affected individuals have EB phenotype.",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:27:07.400603+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plod3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:26:47.433171+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLOD3 as Amber List (moderate evidence)",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:26:47.419840+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plod3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:12:33.524961+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.2",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "gene: PLOD3 was added\ngene: PLOD3 was added to Stickler Syndrome. Sources: Literature\nMode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLOD3 were set to 18834968; 30237576; 30463024; 31129566\nPhenotypes for gene: PLOD3 were set to Stickler-like phenotype with high myopia, midface hypoplasia, microretrognathia\nPenetrance for gene: PLOD3 were set to unknown\nReview for gene: PLOD3 was set to GREEN\nAdded comment: Complex phenotype that includes features of a Stickler-like syndrome. \r\nHigh myopia described in 3/5 described unrelated families\r\nOne description of retinal detachment\r\nFacial dysmorphism with midface hypoplasia, microretrognathia\r\n\r\nOther features include developmental delay and sensorineural hearing loss \nSources: Literature",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:08:45.049636+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.18",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "gene: PLOD3 was added\ngene: PLOD3 was added to Cataract. Sources: Literature\nMode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLOD3 were set to 18834968; 30463024; 31129566\nPhenotypes for gene: PLOD3 were set to cataract\nPenetrance for gene: PLOD3 were set to unknown\nReview for gene: PLOD3 was set to GREEN\nAdded comment: Complex phenotype that includes cataracts in 3/5 described unrelated families \nSources: Literature",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T15:05:28.073343+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.23",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "gene: PLOD3 was added\ngene: PLOD3 was added to Epidermolysis bullosa. Sources: Literature\nMode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLOD3 were set to 18834968; 30463024\nPhenotypes for gene: PLOD3 were set to Blistering skin lesions\nPenetrance for gene: PLOD3 were set to unknown\nReview for gene: PLOD3 was set to AMBER\nAdded comment: Two unrelated families with complex phenotype\r\n-18834968 with global developmental delay, facial dysmorphism, myopia, skeletal changes, blistering of toes, fingers and pinnae from infancy to age 5 years\r\n- 30463024 with developmental delay, facial dysmorphism, myopia, diaphragmatic eventration, skeletal changes, haemorrhagic blisters and erosions\r\n\r\n- A further 3 families with biallelic variants in this gene also had a complex phenotype that did not include blistering skin\r\n\r\nAs there are only two unrelated families with Epidermolysis Bullosa-like skin changes, this gene does not meet criteria for a gene-disease association. \nSources: Literature",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-03-18T14:51:25.600755+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UQCRQ as ready",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2020-03-18T14:51:25.591769+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcrq has been classified as Amber List (Moderate Evidence).",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2020-03-18T14:51:16.689856+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS13C as ready",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2020-03-18T14:51:16.679673+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps13c has been classified as Green List (High Evidence).",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2020-03-18T14:51:13.633885+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS13C were changed from to Early-onset Parkinson disease-23, MIM# 616840",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2020-03-18T14:50:49.140352+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS13C were set to ",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2020-03-18T14:50:21.668210+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS13C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2020-03-18T14:49:51.612103+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS13C: Rating: GREEN; Mode of pathogenicity: None; Publications: 26942284; Phenotypes: Early-onset Parkinson disease-23, MIM# 616840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2020-03-18T14:47:25.970638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UQCRQ were changed from to Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2020-03-18T14:47:03.564374+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UQCRQ were set to ",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2020-03-18T14:46:45.287558+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UQCRQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2020-03-18T14:46:27.338914+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UQCRQ as Amber List (moderate evidence)",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2020-03-18T14:46:27.326297+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcrq has been classified as Amber List (Moderate Evidence).",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2020-03-18T14:46:06.580967+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: None; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UQCRQ",
"entity_type": "gene"
}
]
}