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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1899",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1897",
"results": [
{
"created": "2020-03-20T15:55:32.808565+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZNF462 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:55:02.235514+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: None; Publications: 28513610, 31361404; Phenotypes: Weiss-Kruszka syndrome, MIM#618619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:53:47.553256+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF462 as ready",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:53:47.546754+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Multiple congenital anomaly syndrome characterised by variable but usually mild global developmental delay and common craniofacial abnormalities, including ptosis, abnormal head shape, downslanting palpebral fissures, epicanthal folds, arched eyebrows, and short upturned nose. Many patients have hypotonia and feeding difficulties. A few patients show agenesis of the corpus callosum on brain imaging. Most cases occur sporadically, but there are rare familial cases that show highly variable expressivity in the phenotypic manifestations.",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:53:47.501523+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf462 has been classified as Green List (High Evidence).",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:53:38.973997+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZNF462 were set to 28513610",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:53:15.543595+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF462 were changed from to Weiss-Kruszka syndrome, MIM#618619",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:52:32.905699+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZNF462 were set to ",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:51:38.951095+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZNF462 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:51:07.603413+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HCFC1 as ready",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:51:07.594329+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hcfc1 has been classified as Green List (High Evidence).",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:51:00.332480+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCFC1 were changed from to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:50:40.464916+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HCFC1 were set to ",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:50:27.216218+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HCFC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:49:52.973513+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NIPAL4 as ready",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:49:52.963486+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nipal4 has been classified as Green List (High Evidence).",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:49:50.059933+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NIPAL4 were changed from to Ichthyosis, congenital, autosomal recessive 6, MIM# 612281",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:49:26.597848+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NIPAL4 were set to ",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:49:04.122991+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NIPAL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:48:28.051951+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADA as ready",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:48:28.042519+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ada has been classified as Red List (Low Evidence).",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:48:25.062790+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADA were changed from to Severe combined immunodeficiency due to ADA deficiency\t102700",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:48:01.638131+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:47:23.460436+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADA as Red List (low evidence)",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:47:23.451351+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ada has been classified as Red List (Low Evidence).",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:46:37.075880+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TFAM was added\ngene: TFAM was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TFAM were set to 27448789; 29021295; 9500544\nPhenotypes for gene: TFAM were set to Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)\tMIM#617156\nReview for gene: TFAM was set to AMBER\nAdded comment: One consanguineous family segregates a homozygous variant. Tfam knockout mouse has a mitochondrial cardiomyopathy phenotype and severe mtDNA depletion with abolished oxidative phosphorylation. \nSources: NHS GMS",
"entity_name": "TFAM",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:45:41.954151+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.19",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: BTK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: X-linked agammaglobulinemia, isolated growth hormone deficiency type III with agammaglobulinemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:44:54.631691+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TIMM22 as ready",
"entity_name": "TIMM22",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:44:54.618502+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timm22 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TIMM22",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:44:46.608879+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TIMM22 as Amber List (moderate evidence)",
"entity_name": "TIMM22",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:44:46.599809+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timm22 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TIMM22",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:44:27.943160+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TIMM22 was added\ngene: TIMM22 was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: TIMM22 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TIMM22 were set to 30452684\nPhenotypes for gene: TIMM22 were set to mitochondrial myopathy; hypotonia; gastroesophageal reflux disease\nReview for gene: TIMM22 was set to AMBER\nAdded comment: One compound heterozygote case identified with supporting in vitro and patient cell functional assays. \nSources: NHS GMS",
"entity_name": "TIMM22",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:42:19.270960+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TIMMDC1 as ready",
"entity_name": "TIMMDC1",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:42:19.257384+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timmdc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TIMMDC1",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:42:05.175583+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: TIMMDC1.",
"entity_name": "TIMMDC1",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:42:04.445287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TIMMDC1 as Amber List (moderate evidence)",
"entity_name": "TIMMDC1",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:42:04.436265+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timmdc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TIMMDC1",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:41:47.412312+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TIMMDC1 was added\ngene: TIMMDC1 was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: TIMMDC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TIMMDC1 were set to 28604674; 30981218\nPhenotypes for gene: TIMMDC1 were set to Mitochondrial complex I deficiency, nuclear type 31 MIM#618251\nReview for gene: TIMMDC1 was set to AMBER\nAdded comment: A deep intronic variant (c.597-1340A>G, only detectable by WGS) that causes a splicing aberration was identified in a homozygous state in 3 unrelated cases from different ethnic backgrounds. A patient with Leigh-like syndrome had a homozygous stopgain variant in PDHX and a homozygous stopgain variant in TIMMDC1 (p.Arg225*). The TIMMDC1 mutant protein could still rescue complex I assembly in TIMMDC1 knockout cells and the patient’s clinical phenotype was not clearly distinct from that of other patients with the same PDHX defect. \nSources: NHS GMS",
"entity_name": "TIMMDC1",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:40:16.582093+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: TIMMDC1.",
"entity_name": "TIMMDC1",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:36:46.285346+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM65 as ready",
"entity_name": "TMEM65",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:36:46.272309+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem65 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM65",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:36:38.385519+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM65 as Amber List (moderate evidence)",
"entity_name": "TMEM65",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:36:38.377405+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem65 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM65",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:36:22.238462+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM65 was added\ngene: TMEM65 was added to Mendeliome. 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\nReview for gene: TMEM65 was set to AMBER\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. \nSources: NHS GMS",
"entity_name": "TMEM65",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:25:29.975386+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.19",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31303264; Phenotypes: Rothmund-Thomson syndrome type 1; Mode of inheritance: None",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2020-03-20T14:41:09.876312+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.225",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SLC52A2 as ready",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2020-03-20T14:41:09.866074+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.225",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc52a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2020-03-20T14:40:57.867062+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.225",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC52A2 as Green List (high evidence)",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2020-03-20T14:40:57.849773+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.225",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc52a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2020-03-20T14:39:54.681791+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.224",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC52A2 was added\ngene: SLC52A2 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC52A2 were set to 29053833; 29193829\nPhenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2 MIM#614707\nReview for gene: SLC52A2 was set to GREEN\nAdded comment: The phenotype of at least 7 cases resembles a phenotype similar to mitochondrial disorders, electron transport chain complex I and complex II activity were decreased in SLC52A2 patient fibroblasts, and Drosophila model implicates mitochondrial dysfunction as a downstream consequence of riboflavin transporter gene defects. \nSources: NHS GMS",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2020-03-20T14:31:49.164127+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.223",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SLC52A3 as ready",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2020-03-20T14:31:49.154893+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.223",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc52a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2020-03-20T14:31:45.236759+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.223",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC52A3 as Green List (high evidence)",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2020-03-20T14:31:45.223027+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.223",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc52a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2020-03-20T14:30:38.958136+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.222",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC52A3 was added\ngene: SLC52A3 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC52A3 were set to 29053833; 29193829\nPhenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1 MIM#211530\nReview for gene: SLC52A3 was set to GREEN\nAdded comment: The phenotype of >10 cases resembles a phenotype similar to mitochondrial disorders and Drosophila model implicates mitochondrial dysfunction as a downstream consequence of riboflavin transporter gene defects. \nSources: NHS GMS",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2020-03-20T14:30:13.894204+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1774",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20105171, 23016163; Phenotypes: Protoporphyria, erythropoietic, 1 177000 AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-03-20T14:18:22.688587+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.19",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: AICDA: Rating: RED; Mode of pathogenicity: None; Publications: 11007475, 27789066, 27142677, 19575287; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AICDA",
"entity_type": "gene"
},
{
"created": "2020-03-20T14:11:51.265527+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SPATA5 as ready",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-03-20T14:11:51.251615+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spata5 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-03-20T14:11:46.646025+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SPATA5 as Green List (high evidence)",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-03-20T14:11:46.631282+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spata5 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-03-20T14:10:59.419637+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.220",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPATA5 was added\ngene: SPATA5 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPATA5 were set to 30009132; 29343804\nPhenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome MIM#616577\nReview for gene: SPATA5 was set to GREEN\nAdded comment: At least five cases with biallelic variants had a clinical presentation resembling a mitochondrial disorder. Functional assays showed SPATA5-deficient neurons had a significant imbalance in the mitochondrial fusion-fission rate, impaired energy production and short axons. \nSources: NHS GMS",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-03-20T13:43:00.412430+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1774",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: ADAM17: Rating: AMBER; Mode of pathogenicity: None; Publications: 22010916, 25804906, 21041656, 22236242; Phenotypes: Inflammatory neonatal-onset skin and bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-03-20T13:42:30.939473+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.19",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "edited their review of gene: ADAM17: Changed publications: 22010916, 25804906, 21041656, 22236242",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-03-20T13:41:17.211849+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.19",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: ADAM17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory skin and bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-03-20T13:38:30.768374+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.219",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SSBP1 as ready",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2020-03-20T13:38:30.754314+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.219",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ssbp1 has been classified as Green List (High Evidence).",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2020-03-20T13:38:26.870438+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.219",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SSBP1 as Green List (high evidence)",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2020-03-20T13:38:26.865399+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.219",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Cases associated with mtDNA depletion without accumulation of multiple deletions",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2020-03-20T13:38:26.843541+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.219",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ssbp1 has been classified as Green List (High Evidence).",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2020-03-20T13:37:03.744131+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SSBP1 as Green List (high evidence)",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2020-03-20T13:37:03.729075+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ssbp1 has been classified as Green List (High Evidence).",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2020-03-20T13:36:01.888749+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SSBP1 was added\ngene: SSBP1 was added to Optic Atrophy. Sources: NHS GMS\nMode of inheritance for gene: SSBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SSBP1 were set to 31298765; 31479473; 31550237; 31550240\nPhenotypes for gene: SSBP1 were set to Optic atrophy with or without extraocular phenotypes\nReview for gene: SSBP1 was set to GREEN\nAdded comment: At least 9 dominant families/cases and 1 recessive with optic atrophy with/without additional clinical features, including retinal macular dystrophy, sensorineural deafness, mitochondrial myopathy, and kidney failure. Supporting evidence in functional assays and zebrafish model. \nSources: NHS GMS",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2020-03-20T13:34:27.525840+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.11",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 11992261, PMID: 21533187, PMID: 24935154; Phenotypes: LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines), Metachondromatosis, 156250 AD, Noonan syndrome 1, 163950 AD, Leukemia, juvenile myelomonocytic, somatic, 607785; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-03-20T13:33:41.770497+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1774",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SSBP1 as ready",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2020-03-20T13:33:41.757222+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1774",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ssbp1 has been classified as Green List (High Evidence).",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2020-03-20T13:33:27.726340+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1774",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SSBP1 as Green List (high evidence)",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2020-03-20T13:33:27.717808+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1774",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ssbp1 has been classified as Green List (High Evidence).",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2020-03-20T13:33:02.879535+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1773",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SSBP1 was added\ngene: SSBP1 was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: SSBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SSBP1 were set to 31298765; 31479473; 31550237; 31550240\nPhenotypes for gene: SSBP1 were set to Optic atrophy with or without extraocular phenotypes\nReview for gene: SSBP1 was set to GREEN\nAdded comment: At least 9 dominant families/cases and 1 recessive with optic atrophy with/without additional clinical features, including retinal macular dystrophy, sensorineural deafness, mitochondrial myopathy, and kidney failure. Supporting evidence in functional assays and zebrafish model. \nSources: NHS GMS",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2020-03-20T13:30:14.450639+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SSBP1 was added\ngene: SSBP1 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: SSBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SSBP1 were set to 31298765; 31479473; 31550237; 31550240\nPhenotypes for gene: SSBP1 were set to Optic atrophy with or without extraocular phenotypes\nReview for gene: SSBP1 was set to GREEN\nAdded comment: At least 9 dominant families/cases and 1 recessive with optic atrophy with/without additional clinical features, including retinal macular dystrophy, sensorineural deafness, mitochondrial myopathy, and kidney failure. Supporting evidence in functional assays and zebrafish model. \nSources: NHS GMS",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2020-03-20T13:10:13.482743+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1772",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28513610; Phenotypes: Weiss-Kruszka syndrome, 618619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2020-03-20T13:06:18.471166+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1772",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: HCFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23000143; Phenotypes: Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2020-03-20T12:42:02.694155+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.70",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17557927; Phenotypes: Ichthyosis, congenital, autosomal recessive 6 612281 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2020-03-20T12:35:31.871485+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.19",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: ADA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: SCID-ADA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2020-03-20T12:30:01.382202+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TFAM as ready",
"entity_name": "TFAM",
"entity_type": "gene"
},
{
"created": "2020-03-20T12:30:01.372384+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tfam has been classified as Amber List (Moderate Evidence).",
"entity_name": "TFAM",
"entity_type": "gene"
},
{
"created": "2020-03-20T12:29:52.288052+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TFAM as Amber List (moderate evidence)",
"entity_name": "TFAM",
"entity_type": "gene"
},
{
"created": "2020-03-20T12:29:52.279062+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tfam has been classified as Amber List (Moderate Evidence).",
"entity_name": "TFAM",
"entity_type": "gene"
},
{
"created": "2020-03-20T12:29:18.439630+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TFAM was added\ngene: TFAM was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TFAM were set to 27448789; 29021295; 9500544\nPhenotypes for gene: TFAM were set to Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)\tMIM#617156\nReview for gene: TFAM was set to AMBER\nAdded comment: One consanguineous family segregates a homozygous variant. Tfam knockout mouse has a mitochondrial cardiomyopathy phenotype and severe mtDNA depletion with abolished oxidative phosphorylation. \nSources: NHS GMS",
"entity_name": "TFAM",
"entity_type": "gene"
},
{
"created": "2020-03-20T12:03:10.720299+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.215",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TIMM22 as Amber List (moderate evidence)",
"entity_name": "TIMM22",
"entity_type": "gene"
},
{
"created": "2020-03-20T12:03:10.706565+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.215",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: timm22 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TIMM22",
"entity_type": "gene"
},
{
"created": "2020-03-20T12:02:35.507153+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: One compound heterozygote case identified with supporting in vitro and patient cell functional assays. \nSources: NHS GMS; to: One compound heterozygote case identified with supporting in vitro and patient cell functional assays. No OMIM phenotype recorded.\r\nSources: NHS GMS",
"entity_name": "TIMM22",
"entity_type": "gene"
},
{
"created": "2020-03-20T12:02:11.367421+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TIMM22 was added\ngene: TIMM22 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: TIMM22 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TIMM22 were set to 30452684\nPhenotypes for gene: TIMM22 were set to hypotonia; gastroesophageal reflux disease\nReview for gene: TIMM22 was set to AMBER\nAdded comment: One compound heterozygote case identified with supporting in vitro and patient cell functional assays. \nSources: NHS GMS",
"entity_name": "TIMM22",
"entity_type": "gene"
},
{
"created": "2020-03-20T11:47:51.504009+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.213",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TIMMDC1 as Amber List (moderate evidence)",
"entity_name": "TIMMDC1",
"entity_type": "gene"
},
{
"created": "2020-03-20T11:47:51.491020+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.213",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: timmdc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TIMMDC1",
"entity_type": "gene"
},
{
"created": "2020-03-20T11:46:41.744783+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.212",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TIMMDC1 was added\ngene: TIMMDC1 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: TIMMDC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TIMMDC1 were set to 28604674; 30981218\nPhenotypes for gene: TIMMDC1 were set to Mitochondrial complex I deficiency, nuclear type 31 MIM#618251\nReview for gene: TIMMDC1 was set to AMBER\nAdded comment: A deep intronic variant (c.597-1340A>G, only detectable by WGS) that causes a splicing aberration was identified in a homozygous state in 3 unrelated cases from different ethnic backgrounds. A patient with Leigh-like syndrome had a homozygous stopgain variant in PDHX and a homozygous stopgain variant in TIMMDC1 (p.Arg225*). The TIMMDC1 mutant protein could still rescue complex I assembly in TIMMDC1 knockout cells and the patient’s clinical phenotype was not clearly distinct from that of other patients with the same PDHX defect. \nSources: NHS GMS",
"entity_name": "TIMMDC1",
"entity_type": "gene"
},
{
"created": "2020-03-20T09:34:53.769244+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.211",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TMEM65 as Amber List (moderate evidence)",
"entity_name": "TMEM65",
"entity_type": "gene"
},
{
"created": "2020-03-20T09:34:53.755179+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.211",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmem65 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM65",
"entity_type": "gene"
},
{
"created": "2020-03-20T09:34:17.587758+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.210",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: TMEM65: Changed rating: AMBER",
"entity_name": "TMEM65",
"entity_type": "gene"
},
{
"created": "2020-03-20T09:34:08.064466+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.210",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: 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; to: 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. \r\nSources: NHS GMS",
"entity_name": "TMEM65",
"entity_type": "gene"
}
]
}