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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1718",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1716",
"results": [
{
"created": "2020-07-22T16:57:42.340500+10:00",
"panel_name": "Storage Disorder",
"panel_id": 181,
"panel_version": "0.10",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30950137, 22145468; Phenotypes: Fanconi-Bickel syndrome (MIM#227810); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:56:55.426073+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG2 were changed from to Congenital disorder of glycosylation, type IIq (MIM# 617395)",
"entity_name": "COG2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:56:30.326953+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG2 were set to ",
"entity_name": "COG2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:56:02.789479+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:55:42.757460+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COG2 as Red List (low evidence)",
"entity_name": "COG2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:55:42.747903+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog2 has been classified as Red List (Low Evidence).",
"entity_name": "COG2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:52:46.430787+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.131",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COG2: Rating: RED; Mode of pathogenicity: None; Publications: 24784932; Phenotypes: Congenital disorder of glycosylation, type IIq (MIM# 617395); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:51:18.907497+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.131",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: The B4GALNT1 gene encodes beta-1,4-N-acetylgalactosaminyl transferase-1 (EC 2.4.1.92), an enzyme involved in the biosynthesis of complex gangliosides (G), which are mono- (M), di- (D), and tri- (T) sialic acid-containing glycosphingolipids generated by sequential glycosylations. (OMIM).\r\n\r\n5 families with different homozygous variants described with complex hereditary spastic paraplegia (PMID: 23746551). \r\n\r\nAnother 3 families with homozygous variants and progressive weakness and spasticity were described in PMID:24103911.; to: Summary: 8 families described in total.\r\n\r\nThe B4GALNT1 gene encodes beta-1,4-N-acetylgalactosaminyl transferase-1 (EC 2.4.1.92), an enzyme involved in the biosynthesis of complex gangliosides (G), which are mono- (M), di- (D), and tri- (T) sialic acid-containing glycosphingolipids generated by sequential glycosylations. (OMIM).\r\n\r\n5 families with different homozygous variants described with complex hereditary spastic paraplegia (PMID: 23746551). \r\n\r\nAnother 3 families with homozygous variants and progressive weakness and spasticity were described in PMID:24103911.",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:50:42.553180+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.131",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: The B4GALNT1 gene encodes beta-1,4-N-acetylgalactosaminyl transferase-1 (EC 2.4.1.92), an enzyme involved in the biosynthesis of complex gangliosides (G), which are mono- (M), di- (D), and tri- (T) sialic acid-containing glycosphingolipids generated by sequential glycosylations. (OMIM).\r\n\r\n5 families with different homozygous variants described with complex hereditary spastic paraplegia (PMID: 23746551). \r\n\r\nAnother 3 families with progressive weakness and spasticity were described in PMID:24103911.; to: The B4GALNT1 gene encodes beta-1,4-N-acetylgalactosaminyl transferase-1 (EC 2.4.1.92), an enzyme involved in the biosynthesis of complex gangliosides (G), which are mono- (M), di- (D), and tri- (T) sialic acid-containing glycosphingolipids generated by sequential glycosylations. (OMIM).\r\n\r\n5 families with different homozygous variants described with complex hereditary spastic paraplegia (PMID: 23746551). \r\n\r\nAnother 3 families with homozygous variants and progressive weakness and spasticity were described in PMID:24103911.",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:49:44.114074+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.131",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746551, 24103911; Phenotypes: Spastic paraplegia 26, autosomal recessive (MIM #609195); Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:47:17.682942+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3450",
"user_name": "Natalie Tan",
"item_type": "entity",
"text": "gene: DACT1 was added\ngene: DACT1 was added to Mendeliome. 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": "2020-07-22T16:46:44.556379+10:00",
"panel_name": "Storage Disorder",
"panel_id": 181,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTSK as ready",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:46:44.546539+10:00",
"panel_name": "Storage Disorder",
"panel_id": 181,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsk has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:46:16.457393+10:00",
"panel_name": "Storage Disorder",
"panel_id": 181,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTSK as Amber List (moderate evidence)",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:46:16.447894+10:00",
"panel_name": "Storage Disorder",
"panel_id": 181,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsk has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:44:26.141917+10:00",
"panel_name": "Storage Disorder",
"panel_id": 181,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC37A4 as ready",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:44:26.131637+10:00",
"panel_name": "Storage Disorder",
"panel_id": 181,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc37a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:44:21.373671+10:00",
"panel_name": "Storage Disorder",
"panel_id": 181,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC37A4 were changed from to Glycogen storage disease Ib (MIM#232220); Glycogen storage disease Ic (MIM#232240)",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:43:51.340795+10:00",
"panel_name": "Storage Disorder",
"panel_id": 181,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC37A4 were set to ",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:43:16.726872+10:00",
"panel_name": "Storage Disorder",
"panel_id": 181,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC37A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:42:32.263047+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: G6PC3 as ready",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:42:32.252393+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: g6pc3 has been classified as Green List (High Evidence).",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:42:27.472663+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.131",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: GORAB as ready",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:42:27.464402+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.131",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: gorab has been classified as Green List (High Evidence).",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:42:23.326714+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: G6PC3 were changed from to Dursun syndrome 612541; Neutropenia, severe congenital 4, autosomal recessive 612541",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:42:18.152276+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.131",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: GORAB as Green List (high evidence)",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:42:18.142538+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.131",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: gorab has been classified as Green List (High Evidence).",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:42:04.034669+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: G6PC3 were set to ",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:41:46.442973+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: G6PC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:40:13.024818+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POGLUT1 as ready",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:40:13.015953+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poglut1 has been classified as Green List (High Evidence).",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:40:02.557502+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POGLUT1 were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696)",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:39:40.846368+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POGLUT1 were set to ",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:39:20.561188+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POGLUT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:38:07.085771+10:00",
"panel_name": "Storage Disorder",
"panel_id": 181,
"panel_version": "0.6",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SUMF1 as ready",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:38:07.077115+10:00",
"panel_name": "Storage Disorder",
"panel_id": 181,
"panel_version": "0.6",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sumf1 has been classified as Green List (High Evidence).",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:37:59.728308+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTSF as Green List (high evidence)",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:37:59.714901+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsf has been classified as Green List (High Evidence).",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:37:57.645472+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTSF as ready",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:37:57.633009+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsf has been classified as Green List (High Evidence).",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:37:49.023859+10:00",
"panel_name": "Storage Disorder",
"panel_id": 181,
"panel_version": "0.6",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SUMF1 as Green List (high evidence)",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:37:49.000767+10:00",
"panel_name": "Storage Disorder",
"panel_id": 181,
"panel_version": "0.6",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sumf1 has been classified as Green List (High Evidence).",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:37:26.858674+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTSF as Green List (high evidence)",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:37:26.846729+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsf has been classified as Green List (High Evidence).",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:36:15.275321+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.130",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: GORAB was added\ngene: GORAB was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GORAB were set to PMID: 18348262; 28807865; 30631079.\nPhenotypes for gene: GORAB were set to Geroderma osteodysplasticum MIM#231070\nPenetrance for gene: GORAB were set to Complete\nReview for gene: GORAB was set to GREEN\nAdded comment: Many individuals reported in consanguineous families with Geroderma osteodysplasticum. Patients often have normal isoelectric focusing of serum transferrin. Recent publication demonstrated that loss of GORAB causes impairment of COPI-mediated retrieval of trans-Golgi\r\nenzymes, resulting in a deficit in glycosylation of secretory cargo proteins, thus supporting the view that defective protein glycosylation is a major disease mechanism in gerodermia osteodysplastica (PMID: 30631079). \nSources: Literature",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:35:21.472871+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DACT1 as ready",
"entity_name": "DACT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:35:21.461342+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dact1 has been classified as Red List (Low Evidence).",
"entity_name": "DACT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:35:17.971290+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DACT1 as Red List (low evidence)",
"entity_name": "DACT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:35:17.960221+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dact1 has been classified as Red List (Low Evidence).",
"entity_name": "DACT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:34:39.524532+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.13",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: ESCO2 as ready",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:34:39.514318+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.13",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: esco2 has been classified as Green List (High Evidence).",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:34:34.158280+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.13",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: ESCO2 were set to PMID: 19574259; 16380922",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:34:21.857403+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3444",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21385794; Phenotypes: Dursun syndrome 612541, Neutropenia, severe congenital 4, autosomal recessive 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:34:02.902217+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.12",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: ESCO2 as Green List (high evidence)",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:34:02.881934+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.12",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: esco2 has been classified as Green List (High Evidence).",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:33:48.570417+10:00",
"panel_name": "Storage Disorder",
"panel_id": 181,
"panel_version": "0.5",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28224773, 31508908, 32005221; Phenotypes: Glycogen storage disease Ib (MIM#232220), Glycogen storage disease Ic (MIM#232240); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:32:29.970897+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: G6PC3 as ready",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:32:29.962197+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: g6pc3 has been classified as Green List (High Evidence).",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:32:27.883788+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: G6PC3 were changed from to Dursun syndrome 612541; Neutropenia, severe congenital 4, autosomal recessive 612541",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:32:11.085071+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.11",
"user_name": "Natalie Tan",
"item_type": "entity",
"text": "changed review comment from: Sources: NHS GMS; to: Sources: NHS GMS\r\n\r\nMultiple unrelated individuals with biallelic variants in association with Roberts syndrome/SC phocomelia spectrum. ",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:32:09.235657+10:00",
"panel_name": "Storage Disorder",
"panel_id": 181,
"panel_version": "0.5",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CTSK was added\ngene: CTSK was added to Storage Disorder. Sources: Expert list\nMode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTSK were set to PMID: 32667742; 25725806; 25304337\nPhenotypes for gene: CTSK were set to Pycnodysostosis\t265800\nReview for gene: CTSK was set to AMBER\nAdded comment: OMIN: Cathepsin K a member of the papain family of cysteine proteinases, plays an important role in osteoclast function \r\n\r\nPMID: 32667742 - analysis of cells affected by granular corneal dystrophy shows reduced CTSK protein and lysosomal defects.\r\n\r\nPMID: 25725806: 1 family with pycnodysostosis. Protein described as a lysosomal cysteine protease\r\n\r\nPMID: 25304337 - 1 patient with pycnodysostosis, described as a lysosomal storage disorder\r\n\r\nSummary: disease is described as a lysosomal disorder but no cell studies on lysosome function or protein studies found. \nSources: Expert list",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:31:56.292557+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: G6PC3 were set to ",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:31:35.431496+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3444",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: POGLUT1: Rating: GREEN; 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: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:31:33.476780+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: G6PC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:30:33.984032+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.127",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: POMK as ready",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:30:33.975486+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.127",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pomk has been classified as Green List (High Evidence).",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:30:07.360008+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.127",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:29:58.913173+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POGLUT1 as ready",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:29:58.907929+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Limited evidence for bi-allelic disease or for CDG association.",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:29:58.871596+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poglut1 has been classified as Red List (Low Evidence).",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:29:44.622503+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POGLUT1 were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696)",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:29:22.187727+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POGLUT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:28:26.025820+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POGLUT1 were set to ",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:28:03.255631+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POGLUT1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:27:44.754646+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.122",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: EOGT as ready",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:27:44.743834+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.122",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: eogt has been classified as Green List (High Evidence).",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:27:40.868007+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.122",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: EOGT were changed from Adams-Oliver syndrome 4, #615297; scalp aplasia cutis congenita; transverse terminal limb defects to Adams-Oliver syndrome 4 (MIM #615297); scalp aplasia cutis congenita; transverse terminal limb defects",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:27:21.987031+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POGLUT1 as Red List (low evidence)",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:27:21.976961+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poglut1 has been classified as Red List (Low Evidence).",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:27:08.591980+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3444",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: SEC23A: Rating: AMBER; Mode of pathogenicity: None; Publications: 16980979, 21039434, 16980978, 27148587; Phenotypes: Craniolenticulosutural dysplasia (MIM# 607812); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:26:58.784271+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POGLUT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:26:41.090148+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POGLUT1 as Amber List (moderate evidence)",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:26:41.080093+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poglut1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:26:26.552324+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.11",
"user_name": "Natalie Tan",
"item_type": "entity",
"text": "gene: ESCO2 was added\ngene: ESCO2 was added to Radial Ray Abnormalities. Sources: NHS GMS\nMode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ESCO2 were set to PMID: 19574259; 16380922\nPhenotypes for gene: ESCO2 were set to Roberts syndrome 268300; SC phocomelia syndrome 269000\nReview for gene: ESCO2 was set to GREEN\nAdded comment: Sources: NHS GMS",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:26:17.740510+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.118",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: EOGT were changed from to Adams-Oliver syndrome 4, #615297; scalp aplasia cutis congenita; transverse terminal limb defects",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:24:38.823861+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEC23A: Rating: AMBER; Mode of pathogenicity: None; Publications: 16980979, 21039434, 16980978, 27148587; Phenotypes: Craniolenticulosutural dysplasia (MIM# 607812); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:24:31.651837+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.117",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: EOGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:22:02.362700+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC23A as ready",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:22:02.347028+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec23a has been classified as Red List (Low Evidence).",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:21:45.325916+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEC23A were changed from to Craniolenticulosutural dysplasia (MIM# 607812)",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:21:18.280527+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEC23A were set to ",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:21:00.427419+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEC23A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:20:36.327389+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC23A as Red List (low evidence)",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:20:36.317506+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec23a has been classified as Red List (Low Evidence).",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:19:56.602753+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3444",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: POFUT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23684010, 29452367, 25157627; Phenotypes: Dowling-Degos disease 2 (MIM# 615327); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "POFUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:19:26.720457+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.112",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: POFUT1 as ready",
"entity_name": "POFUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:19:26.708813+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.112",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pofut1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POFUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:19:13.523559+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.112",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: POFUT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "POFUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:18:26.477520+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.111",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: POFUT1 as Amber List (moderate evidence)",
"entity_name": "POFUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T16:18:26.468693+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.111",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pofut1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POFUT1",
"entity_type": "gene"
}
]
}