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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1719",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1717",
"results": [
{
"created": "2020-07-22T16:16:05.955885+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC26A2 as ready",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:16:05.946867+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc26a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:16:03.134288+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC26A2 were changed from to Skeletal dysplasia (various)",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:15:38.425204+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC26A2 were set to ",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:15:11.519309+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC26A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:14:34.138522+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC26A2 as Amber List (moderate evidence)",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:14:34.129581+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc26a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:14:19.472360+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.106",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: MAGT1 as ready",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:14:19.463184+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.106",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: magt1 has been classified as Green List (High Evidence).",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:14:07.705720+10:00",
"panel_name": "Storage Disorder",
"panel_id": 181,
"panel_version": "0.5",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: SUMF1 was added\ngene: SUMF1 was added to Storage Disorder. Sources: Expert Review\nMode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUMF1 were set to 17360554; 25885655; 28566233\nPhenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency (MIM#272200)\nReview for gene: SUMF1 was set to GREEN\nAdded comment: >5 MSD patients reported. This condition is caused by defective activity of all sulfatases, most of them with lysosomal localization. \nSources: Expert Review",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:14:01.625672+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.106",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: MAGT1 were set to PMID: 31036665",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:13:31.875840+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.105",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: MAGT1 as Green List (high evidence)",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:13:31.867143+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.105",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: magt1 has been classified as Green List (High Evidence).",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:10:02.097987+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC35A2 as ready",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:10:02.084304+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:09:58.713492+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35A2 were changed from to Congenital disorder of glycosylation, type IIm (MIM #300896)",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:09:50.311785+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.11",
"user_name": "Natalie Tan",
"item_type": "entity",
"text": "gene: DACT1 was added\ngene: DACT1 was added to Radial Ray Abnormalities. Sources: NHS GMS\nMode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DACT1 were set to PMID: 28054444; 22610794; 19701191\nPhenotypes for gene: DACT1 were set to ?Townes-Brocks syndrome 2 (OMIM #617466)\nReview for gene: DACT1 was set to RED\nAdded comment: Webb et al. (2017) reported 6 affected members of a 3-generation family with ?Townes-Brocks syndrome-2, identified heterozygosity for a nonsense mutation in the DACT1 gene that segregated with disease. Clinical features include imperforate anus, rectovaginal fistula, crossed fused renal ectopia, vesicoureteral reflux, unilateral microtia, overfolded helices and cupped ears. One family member (proband's mother) with scoliosis and spina bifida occulta. Neural tube defects reported in a study of human fetuses (PMID: 22610794) and a mouse model (PMID: 19701191). Listed in Decipher v10.0 for an individual with abnormalities of (i) head or neck (ii) nervous system (iii) skeletal system. Unlike the gene SALL1 that causes Townes-Brocks syndrome 1, there is no information specifically relating to DACT1 with radial dysplasia, as these were not observed in the family with ?Townes-Brocks syndrome 2 (PMID: 28054444). \nSources: NHS GMS",
"entity_name": "DACT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:09:40.976787+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC35A2 were set to ",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:09:15.139773+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC35A2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:08:45.876111+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.101",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: GMPPA as ready",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:08:45.865039+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.101",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: gmppa has been classified as Green List (High Evidence).",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:08:36.639687+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.101",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: GMPPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:08:06.682597+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSE as ready",
"entity_name": "DSE",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:08:06.677130+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Link to CDGs unclear.",
"entity_name": "DSE",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:08:06.637380+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dse has been classified as Red List (Low Evidence).",
"entity_name": "DSE",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:07:51.243563+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSE were changed from to Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539)",
"entity_name": "DSE",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:07:23.465501+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DSE were set to ",
"entity_name": "DSE",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:07:03.304421+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DSE",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:06:42.564395+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DSE as Red List (low evidence)",
"entity_name": "DSE",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:06:42.550646+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dse has been classified as Red List (Low Evidence).",
"entity_name": "DSE",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:02:08.077405+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSG as ready",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:02:08.072498+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Additional family reported with a different variant, upgrade to Amber.",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:02:08.047761+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsg has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2020-07-22T15:59:49.856113+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.52",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CTSF was added\ngene: CTSF was added to Early-onset Dementia. Sources: Expert list\nMode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTSF were set to PMID: 28749476; 27668283; 27524508\nPhenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type\t615362\nReview for gene: CTSF was set to GREEN\nAdded comment: OMIM: Cathepsin is a member of the papain family of cysteine proteases. These enzymes represent a major component of the lysosomal proteolytic system.\r\n\r\nPMID: 28749476 - 1 chet patient (missense, CNV) with FTD, onset at 37 years old.\r\n\r\nPMID: 27668283 - 2 families with adult-onset neuronal ceroid lipofuscinosis and FTD. Onset in 20s-30s. Light and electron microscopy shows swollen neuronal perikarya and intraneuronal storage of polymorphic lipofuscin-like inclusions\r\n\r\nPMID: 27524508 - 1 hom family (PTC) with early-onset Alzheimer disease \nSources: Expert list",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2020-07-22T15:59:32.388900+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARSG were set to 29300381; 20679209; 25452429; 26975023",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2020-07-22T15:59:20.016083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARSG as Amber List (moderate evidence)",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2020-07-22T15:59:19.968007+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsg has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2020-07-22T15:59:02.432656+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: ARSG.",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2020-07-22T15:53:16.727870+10:00",
"panel_name": "Storage Disorder",
"panel_id": 181,
"panel_version": "0.5",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: VPS33A: Rating: AMBER; Mode of pathogenicity: None; Publications: 28013294, 27547915; Phenotypes: Mucopolysaccharidosis-plus syndrome (MIM#617303); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS33A",
"entity_type": "gene"
},
{
"created": "2020-07-22T15:39:59.097245+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: G6PC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 21385794; Phenotypes: Dursun syndrome 612541, Neutropenia, severe congenital 4, autosomal recessive 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2020-07-22T15:30:07.555055+10:00",
"panel_name": "Storage Disorder",
"panel_id": 181,
"panel_version": "0.5",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CTNS was added\ngene: CTNS was added to Storage Disorder. Sources: Expert list\nMode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTNS were set to PMID: 32564281\nPhenotypes for gene: CTNS were set to Cystinosis, late-onset juvenile or adolescent nephropathic\t219900; Cystinosis, nephropathic\t219800; Cystinosis, ocular nonnephropathic\t219750\nReview for gene: CTNS was set to GREEN\nAdded comment: OMIM: CTNS encodes an integral membrane protein, that has features of a lysosomal membrane protein. \r\n\r\nPMID: 32564281 - Reports many patients with biallelic variants and nephropathic cystinosis.\r\nProtein transports free cystine from lysosomes to cytoplasm, free cystine accumulates in lysosomes and forms cystine crystals that lead to tissue and organ damage. \nSources: Expert list",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2020-07-22T14:23:34.505782+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-22T14:13:08.282381+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 23519211, 24556084, 24925318; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (MIM #615249); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:59:26.658758+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: POGLUT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27807076, 24387993; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696); Mode of inheritance: Other",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:54:09.649012+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC2 as ready",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:54:09.638750+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc2 has been classified as Green List (High Evidence).",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:54:06.659513+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC2 were changed from to Trichothiodystrophy 1, photosensitive, MIM#601675",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:53:44.023198+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:50:04.827730+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichothiodystrophy 1, photosensitive, MIM#601675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:48:17.834682+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTF2H5 as ready",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:48:17.826044+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2h5 has been classified as Green List (High Evidence).",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:48:15.668632+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTF2H5 were changed from to Trichothiodystrophy 3, photosensitive, MIM# 616395",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:47:50.148617+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GTF2H5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:47:27.155668+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichothiodystrophy 3, photosensitive, MIM# 616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:46:39.047132+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLH as ready",
"entity_name": "POLH",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:46:39.037187+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polh has been classified as Green List (High Evidence).",
"entity_name": "POLH",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:46:35.607353+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLH were changed from to Xeroderma pigmentosum, variant type, MIM# 278750",
"entity_name": "POLH",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:46:14.017106+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLH",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:45:17.910602+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, variant type, MIM# 278750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLH",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:41:21.983187+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHCR7 as ready",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:41:21.972196+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr7 has been classified as Green List (High Evidence).",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:41:18.657469+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHCR7 were changed from to Smith-Lemli-Opitz syndrome, MIM# 270400",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:40:53.087331+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:40:29.821990+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome, MIM# 270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:36:39.916242+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDB2 as ready",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:36:39.905612+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddb2 has been classified as Green List (High Evidence).",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:36:35.996921+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDB2 were changed from to Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:36:12.257305+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DDB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:35:47.378454+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:34:02.851851+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLM as ready",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:34:02.834723+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: blm has been classified as Green List (High Evidence).",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:34:00.250719+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from to Bloom syndrome, MIM# 210900",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:33:38.745725+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BLM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:33:16.433358+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bloom syndrome, MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:31:48.141060+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3442",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ARSG: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29300381, 20679209, 25452429, 26975023, 32455177; Phenotypes: Usher syndrome, type IV, MIM# 618144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:31:37.071530+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAR as ready",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:31:37.061366+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adar has been classified as Red List (Low Evidence).",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:31:34.464847+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAR were changed from to Dyschromatosis symmetrica hereditaria , MIM#127400",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:31:08.236687+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADAR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:30:46.668981+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAR as Red List (low evidence)",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:30:46.660557+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adar has been classified as Red List (Low Evidence).",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:30:23.573480+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyschromatosis symmetrica hereditaria , MIM#127400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:26:20.804757+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA1 as ready",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:26:20.795728+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:26:15.995383+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GATA1 as Amber List (moderate evidence)",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:26:15.985397+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:23:01.054463+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FECH as ready",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:23:01.045829+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fech has been classified as Green List (High Evidence).",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:22:55.892689+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FECH as Green List (high evidence)",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:22:55.882424+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fech has been classified as Green List (High Evidence).",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:21:34.907293+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.9",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: GATA1 was added\ngene: GATA1 was added to Photosensitivity Syndromes. Sources: Expert list\nMode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GATA1 were set to PMID: 17148589; 25251786\nPhenotypes for gene: GATA1 were set to Erythropoietic porphyria\nReview for gene: GATA1 was set to AMBER\nAdded comment: PMID: 17148589 - 1 hemizygous English/French patient with p.R216W and photosensitive bullous dermatosis\r\n\r\nPMID: 25251786 - 1 hemizygous Turkish patient with p.R216W and photosensitive bullous dermatosis \nSources: Expert list",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2020-07-22T13:15:14.293198+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: EOGT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23522784, 31368252, 29924900; Phenotypes: scalp aplasia cutis congenita, transverse terminal limb defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:51:24.184843+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.9",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: FECH was added\ngene: FECH was added to Photosensitivity Syndromes. Sources: Expert list\nMode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FECH were set to PMID: 31304091; 17875872\nPhenotypes for gene: FECH were set to Protoporphyria, erythropoietic, 1\t177000\nReview for gene: FECH was set to GREEN\nAdded comment: PMID: 31304091 - 1 family (3 patients) with cutaneous photosensitivity and erythropoietic protoporphyria (EPP)\r\n\r\nPMID: 17875872 - 11 unrelated patients with Erythropoietic Protoporphyria and acute cutaneous photo-sensitivity. 10/11 were heterozygous for the common variant c.333-48T>C w/ a 2nd mutation.\r\n\r\nc.333-48T>C is a common variant with functional studies, but has almost 4000 homozygotes in the population with 35% frequency in Latino and East Asian groups. Most recently classed as pathogenic (ClinVar). \nSources: Expert list",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:44:54.345223+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPOX as ready",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:44:54.330397+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppox has been classified as Green List (High Evidence).",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:44:50.276303+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPOX as Green List (high evidence)",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:44:50.265962+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppox has been classified as Green List (High Evidence).",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:43:12.572486+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RECQL4 as ready",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:43:12.562470+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: recql4 has been classified as Green List (High Evidence).",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:43:07.787362+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RECQL4 as Green List (high evidence)",
"entity_name": "RECQL4",
"entity_type": "gene"
}
]
}