HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220263,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1423",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1421",
"results": [
{
"created": "2021-02-04T14:33:02.548567+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.50",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: RPL10: Rating: AMBER; Mode of pathogenicity: None; Publications: 16940977, 21567917, 23871722; Phenotypes: {Autism, susceptibility to, X-linked 5}, MIM #300847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2021-02-04T14:20:45.639828+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.141",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FMO3 as ready",
"entity_name": "FMO3",
"entity_type": "gene"
},
{
"created": "2021-02-04T14:20:45.615694+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.141",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fmo3 has been classified as Green List (High Evidence).",
"entity_name": "FMO3",
"entity_type": "gene"
},
{
"created": "2021-02-04T14:20:42.547127+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.141",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FMO3 as Green List (high evidence)",
"entity_name": "FMO3",
"entity_type": "gene"
},
{
"created": "2021-02-04T14:20:42.538867+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.141",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fmo3 has been classified as Green List (High Evidence).",
"entity_name": "FMO3",
"entity_type": "gene"
},
{
"created": "2021-02-04T14:20:34.017049+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.140",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FMO3 was added\ngene: FMO3 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FMO3 were set to 27604308; 9536088\nPhenotypes for gene: FMO3 were set to Trimethylaminuria MIM#602079; Disorders and variants of other enzymes that oxidise xenobiotics\nReview for gene: FMO3 was set to GREEN\ngene: FMO3 was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Trimethylaminuria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of the metabolism of xenobiotics. \nSources: NHS GMS",
"entity_name": "FMO3",
"entity_type": "gene"
},
{
"created": "2021-02-04T14:15:49.477518+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.50",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: ACSF3: Rating: RED; Mode of pathogenicity: None; Publications: 21841779, 2682711, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria, MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2021-02-04T13:52:47.682108+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WBP11 as ready",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2021-02-04T13:52:47.674483+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wbp11 has been classified as Green List (High Evidence).",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2021-02-04T13:51:30.983602+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WBP11 as Green List (high evidence)",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2021-02-04T13:51:30.973314+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wbp11 has been classified as Green List (High Evidence).",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2021-02-04T13:51:02.537700+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WBP11 was added\ngene: WBP11 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WBP11 were set to 33276377\nPhenotypes for gene: WBP11 were set to malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems\nReview for gene: WBP11 was set to GREEN\nAdded comment: PMID: 33276377 - Martin et al 2020 - report 13 affected individuals from 7 unrelated families identified through various different cohort analysis (vertebral malformation, renal hypodysplasia, syndromic esophageal atresia, multiple congenital anomalies) in whom a WBP11 heterozygous variant is considered the top causative candidate. 5 identified variants were predicted to be protein truncating whilst the 6th was a missense variant. All variants are absent from population databases. In family 1, the variant was inherited from the apparently unaffected mother, indicating reduced penetrance, and phenotypic variance within families was observed. Phenotypes covered cardiac, vertebral, renal, craniofacial and gastrointestinal systems. At least at least 5 of the patients affected had features in three component organs so can be considered a VACTERL association. Wbp11 heterozygous null mice had vertebral and renal anomalies. \nSources: Literature",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2021-02-04T13:49:30.690029+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WBP11 as ready",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2021-02-04T13:49:30.682125+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wbp11 has been classified as Green List (High Evidence).",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2021-02-04T13:49:22.443394+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WBP11 as Green List (high evidence)",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2021-02-04T13:49:22.432817+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wbp11 has been classified as Green List (High Evidence).",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2021-02-04T13:28:39.130810+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRUNE1 as ready",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2021-02-04T13:28:39.116932+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prune1 has been classified as Green List (High Evidence).",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2021-02-04T13:28:34.720170+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRUNE1 were changed from to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies , MIM#617481",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2021-02-04T13:28:01.339110+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRUNE1 were set to ",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2021-02-04T13:27:26.420007+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRUNE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2021-02-04T13:26:51.466951+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRUNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26539891, 28334956, 33105479; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies , MIM#617481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:55:15.584260+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATP13A2 as ready",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:55:15.573420+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp13a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:55:12.943060+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATP13A2 as Green List (high evidence)",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:55:12.935820+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp13a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:55:05.307348+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP13A2 was added\ngene: ATP13A2 was added to Iron metabolism disorders. Sources: Literature\nMode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP13A2 were set to 27604308; 16964263\nPhenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome MIM#606693; Disorder of iron metabolism\nReview for gene: ATP13A2 was set to GREEN\ngene: ATP13A2 was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). ATP13A2 deficiency causes a neurodegeneration with brain iron accumulation disorder, which is considered a disorder of iron metabolism. \nSources: Literature",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:50:13.370018+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: WDR45 as ready",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:50:13.361664+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: wdr45 has been classified as Green List (High Evidence).",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:50:08.800050+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: WDR45 as Green List (high evidence)",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:50:08.789963+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: wdr45 has been classified as Green List (High Evidence).",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:50:00.835038+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WDR45 was added\ngene: WDR45 was added to Iron metabolism disorders. Sources: Literature\nMode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: WDR45 were set to 27604308; 23176820\nPhenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5 MIM#300894; Beta-propeller protein-associated neurodegeneration; Disorder of iron metabolism\nReview for gene: WDR45 was set to GREEN\ngene: WDR45 was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). NBIA is considered a disorder of iron metabolism. \nSources: Literature",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:45:13.942401+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FA2H as ready",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:45:13.930840+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fa2h has been classified as Green List (High Evidence).",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:45:10.868473+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FA2H as Green List (high evidence)",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:45:10.860406+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fa2h has been classified as Green List (High Evidence).",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:45:03.238676+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FA2H was added\ngene: FA2H was added to Iron metabolism disorders. Sources: Literature\nMode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FA2H were set to 27604308; 18463364; 19068277; 20104589; 20853438\nPhenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive MIM#612319; Fatty acid hydroxylase-associated neurodegeneration; Disorder of iron metabolism\nReview for gene: FA2H was set to GREEN\ngene: FA2H was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). FA2H deficiency can cause neurodegeneration with brain iron accumulation, which is considered a disorder of iron metabolism. \nSources: Literature",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:34:55.903113+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: C19orf12 as ready",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:34:55.895463+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: c19orf12 has been classified as Green List (High Evidence).",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:34:51.906429+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: C19orf12 as Green List (high evidence)",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:34:51.898587+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: c19orf12 has been classified as Green List (High Evidence).",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:34:44.288647+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: C19orf12 was added\ngene: C19orf12 was added to Iron metabolism disorders. Sources: Literature\nMode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: C19orf12 were set to 27604308; 21981780\nPhenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation 4 MIM#614298; Disorder of iron metabolism\nReview for gene: C19orf12 was set to GREEN\ngene: C19orf12 was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). NBIA4 is considered a disorder of iron metabolism. \nSources: Literature",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:24:54.642149+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PLA2G6 as ready",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:24:54.633938+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pla2g6 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:24:51.963765+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PLA2G6 as Green List (high evidence)",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:24:51.953372+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pla2g6 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:24:43.782594+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PLA2G6 was added\ngene: PLA2G6 was added to Iron metabolism disorders. Sources: Literature\nMode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLA2G6 were set to 27604308; 16783378\nPhenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation 2B MIM#610217; Disorder of iron metabolism\nReview for gene: PLA2G6 was set to GREEN\ngene: PLA2G6 was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). PLA2G6 deficiency is considered an inborn error of iron metabolism. \nSources: Literature",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:20:51.758476+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PANK2 as ready",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:20:51.751338+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pank2 has been classified as Green List (High Evidence).",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:20:48.124626+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PANK2 as Green List (high evidence)",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:20:48.113740+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pank2 has been classified as Green List (High Evidence).",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2021-02-04T12:19:50.530108+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PANK2 was added\ngene: PANK2 was added to Iron metabolism disorders. Sources: Literature\nMode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PANK2 were set to 27604308; 11479594\nPhenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1 MIM#234200; Disorder of iron metabolism\nReview for gene: PANK2 was set to GREEN\ngene: PANK2 was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). PANK2 deficiency is considered an inborn error of iron metabolism. \nSources: Literature",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:55:31.263202+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.139",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: AMN were set to 12590260",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:55:18.137228+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.138",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: AMN: Changed publications: 12590260, 27604308",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:55:06.911204+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.138",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: AMN as ready",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:55:06.903508+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.138",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: amn has been classified as Green List (High Evidence).",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:55:02.795032+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.138",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AMN as Green List (high evidence)",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:55:02.782128+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.138",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: amn has been classified as Green List (High Evidence).",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:54:54.007526+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.137",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AMN was added\ngene: AMN was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMN were set to 12590260\nPhenotypes for gene: AMN were set to Imerslund-Grasbeck syndrome 2 MIM#618882; Disorders of cobalamin absorption, transport and metabolism\nReview for gene: AMN was set to GREEN\ngene: AMN was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). AMN-related intrinsic factor receptor deficiency (Imerslund-Grasbeck syndrome) is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of vitamin metabolism. \nSources: NHS GMS",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:49:24.922359+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.136",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ADAR as ready",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:49:24.905337+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.136",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: adar has been classified as Green List (High Evidence).",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:49:20.370539+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.136",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ADAR as Green List (high evidence)",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:49:20.354662+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.136",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: adar has been classified as Green List (High Evidence).",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:49:07.978509+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADAR was added\ngene: ADAR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAR were set to 23001123; 27604308\nPhenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6 MIM#615010; Disorders of nucleotide metabolism\nReview for gene: ADAR was set to GREEN\ngene: ADAR was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Aicardi-Goutieres syndrome is considered a disorder of nucleotide metabolism. \nSources: NHS GMS",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:42:28.901005+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.134",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EPG5 as ready",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:42:28.887695+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.134",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: epg5 has been classified as Green List (High Evidence).",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:42:24.246565+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.134",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EPG5 as Green List (high evidence)",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:42:24.236082+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.134",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: epg5 has been classified as Green List (High Evidence).",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:42:15.278186+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.133",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EPG5 was added\ngene: EPG5 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EPG5 were set to 23222957; 26715604\nPhenotypes for gene: EPG5 were set to Vici syndrome MIM#242840; Congenital disorders of autophagy\nReview for gene: EPG5 was set to GREEN\ngene: EPG5 was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). This gene is involved in autophagy, an intracellular pathway that deliver cytosolic cargo to lysosomes for degradation. Congenital disorders of autophagy are a class of inborn errors of neuro-metabolism. \nSources: NHS GMS",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:24:04.236206+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRUNE1 were set to 26539891; 28334956",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:23:28.668704+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRUNE1: Added comment: Further clinical analysis of previously reported patients and functional analysis of some of the variants in PMID:33105479 - Nistala et al 2020 - detailed phenotypic analysis of a previously reported family (SZ51, Karaca et al 2015) plus detailed literature and clinical review of all 35 NMIHBA patients reported to date. They also characterized 4 variants (p.D30N, p.D106N, p.R128Q and p.G174*) within the conserved N-terminal domain. Wild type or mutant proteins were transfected into HEK293 cells. Cells showed either no protein expression (p.G174*) or loss of PRUNE1 function due to impaired protein stability or loss of enzymatic function (3 missense variants). Prune1−/− mice show midgestational lethality, associated with changes in embryonic growth and vascular development.; Changed publications: 26539891, 28334956, 33105479; Changed phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies , MIM#617481",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:22:51.925252+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRUNE1 were set to 26539891; 28334956",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:17:23.021942+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DPYS as ready",
"entity_name": "DPYS",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:17:23.011193+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dpys has been classified as Green List (High Evidence).",
"entity_name": "DPYS",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:17:20.293209+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DPYS as Green List (high evidence)",
"entity_name": "DPYS",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:17:20.281891+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dpys has been classified as Green List (High Evidence).",
"entity_name": "DPYS",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:17:09.290881+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.131",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: DPYS: Changed publications: 9718352",
"entity_name": "DPYS",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:16:42.928190+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.131",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DPYS was added\ngene: DPYS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: DPYS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DPYS were set to Dihydropyrimidinuria MIM#222748; Disorders of pyrimidine metabolism\nReview for gene: DPYS was set to GREEN\ngene: DPYS was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Dihydropyrimidinuria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of pyrimidine metabolism. \nSources: NHS GMS",
"entity_name": "DPYS",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:09:58.205186+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DPYD as ready",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:09:58.196499+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dpyd has been classified as Green List (High Evidence).",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:09:54.906217+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DPYD as Green List (high evidence)",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:09:54.895337+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dpyd has been classified as Green List (High Evidence).",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2021-02-04T11:09:43.761304+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DPYD was added\ngene: DPYD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DPYD were set to 8051923\nPhenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency MIM#274270; 5-fluorouracil toxicity MIM#274270; Disorders of pyrimidine metabolism\nReview for gene: DPYD was set to GREEN\ngene: DPYD was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Dihydropyrimidine dehydrogenase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of pyrimidine metabolism. \nSources: NHS GMS",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2021-02-04T08:26:13.443105+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLRN2 were changed from Non-syndromic hearing loss to Non-syndromic hearing loss; Deafness, autosomal recessive 117, MIM#\t619174",
"entity_name": "CLRN2",
"entity_type": "gene"
},
{
"created": "2021-02-04T08:25:40.744584+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLRN2: Changed phenotypes: Non-syndromic hearing loss, Deafness, autosomal recessive 117, MIM# 619174",
"entity_name": "CLRN2",
"entity_type": "gene"
},
{
"created": "2021-02-04T08:25:22.778225+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLRN2 as ready",
"entity_name": "CLRN2",
"entity_type": "gene"
},
{
"created": "2021-02-04T08:25:22.770604+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clrn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLRN2",
"entity_type": "gene"
},
{
"created": "2021-02-04T08:25:14.486273+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLRN2 were changed from Non-syndromic hearing loss to Non-syndromic hearing loss; Deafness, autosomal recessive 117, MIM#\t619174",
"entity_name": "CLRN2",
"entity_type": "gene"
},
{
"created": "2021-02-04T05:51:30.756104+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6207",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: PMID: 33326033 - Akhavanfard et al 2020 - identified a heterozygous germline variant in EGFR (c.3238 G>A, p.Asp1080Asn) in a 21 year old female with metastatic bilateral Adrenocortical carcinoma (ACC). Then they analyzed germline exome data from 21 children, 32 adolescents and young adults (15-39y), and 60 adult participants with ACC. 3.5% of all 113 ACC cases had at least a highly prioritized VUS germline EGFR variant, compared to only 0.3% in a non-TCGA (The Cancer Genome Atlas) ExAC control group (P < 0.0001). No segregation data.; to: PMID: 33326033 - Akhavanfard et al 2020 - identified a heterozygous germline variant in EGFR (c.3238 G>A, p.Asp1080Asn) in a 21 year old female with metastatic bilateral Adrenocortical carcinoma (ACC). Then they analyzed germline exome data from 21 children, 32 adolescents and young adults (15-39y), and 60 adult participants with ACC. 3.5% of all 113 ACC cases had at least a highly prioritized VUS germline EGFR variant, compared to only 0.3% in a non-TCGA (The Cancer Genome Atlas) ExAC control group (P < 0.0001). In the adolescents and young adults group 6.2% had ECGR variants. No segregation data.",
"entity_name": "EGFR",
"entity_type": "gene"
},
{
"created": "2021-02-04T05:44:41.329014+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6207",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: EGFR: Rating: AMBER; Mode of pathogenicity: None; Publications: 33326033; Phenotypes: Adrenocortical carcinoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "EGFR",
"entity_type": "gene"
},
{
"created": "2021-02-04T00:57:22.934356+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6207",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: WBP11 was added\ngene: WBP11 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: WBP11 were set to 33276377\nPhenotypes for gene: WBP11 were set to malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems\nReview for gene: WBP11 was set to GREEN\nAdded comment: PMID: 33276377 - Martin et al 2020 - report 13 affected individuals from 7 unrelated families identified through various different cohort analysis (vertebral malformation, renal hypodysplasia, syndromic esophageal atresia, multiple congenital anomalies) in whom a WBP11 heterozygous variant is considered the top causative candidate. 5 identified variants were predicted to be protein truncating whilst the 6th was a missense variant. All variants are absent from population databases. In family 1, the variant was inherited from the apparently unaffected mother, indicating reduced penetrance, and phenotypic variance within families was observed. Phenotypes covered cardiac, vertebral, renal, craniofacial and gastrointestinal systems. At least at least 5 of the patients affected had features in three component organs so can be considered a VACTERL association. Wbp11 heterozygous null mice had vertebral and renal anomalies. \nSources: Literature",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2021-02-03T22:55:26.607212+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6207",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: PRUNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33105479; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies , MIM#617481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2021-02-03T21:36:57.053420+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAS as ready",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2021-02-03T21:36:57.046231+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnas has been classified as Green List (High Evidence).",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2021-02-03T21:36:54.895775+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAS were changed from Pseudohypoparathyroidism Ia, 103580 (Hypothyroidism) to Pseudohypoparathyroidism Ia, MIM#103580 (Hypothyroidism)",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2021-02-03T21:36:44.901706+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAS were set to 27922245; 17299070; 23412865",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2021-02-03T21:36:25.526490+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27467896; Phenotypes: Pseudohypoparathyroidism Ia, MIM# 103580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2021-02-03T21:16:07.960101+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLIS3 as ready",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2021-02-03T21:16:07.952534+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glis3 has been classified as Green List (High Evidence).",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2021-02-03T21:16:05.253326+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLIS3 were changed from polycystic kidneys; neonatal non-autoimmune diabetes mellitus; congenital glaucoma; hepatic fibrosis; sensorineural deafness; Congenital hypothyroidism; variable cholestasis; dysmorphic facies; severe congenital hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM# 610199",
"entity_name": "GLIS3",
"entity_type": "gene"
}
]
}