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{
"count": 172795,
"next": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?page=2",
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"results": [
{
"created": "2021-07-31T01:48:25.328527Z",
"panel_name": "Gastrointestinal neuromuscular disorders",
"panel_id": 61,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAD21 was added\ngene: RAD21 was added to Gastrointestinal neuromuscular disorders. Sources: Expert Review\nMode of inheritance for gene: RAD21 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAD21 were set to 14638363; 32193685; 25575569\nPhenotypes for gene: RAD21 were set to Mungan syndrome, MIM# 611376\nReview for gene: RAD21 was set to GREEN\nAdded comment: Mono-allelic variants are associated with CdL but bi-allelic variants are associated with Mungan syndrome, which includes pseudo-obstruction. \nSources: Expert Review",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-07-31T01:44:43.831245Z",
"panel_name": "Gastrointestinal neuromuscular disorders",
"panel_id": 61,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 9279760, 11857550, 15148591, 15368500, 22354677; Phenotypes: Hydrocephalus with Hirschsprung disease or congenital idiopathic intestinal pseudoobstruction MIM#307000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2021-07-30T20:21:34.311531Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.452",
"user_name": "Boaz Palterer",
"item_type": "entity",
"text": "gene: RGS10 was added\ngene: RGS10 was added to Primary immunodeficiency. Sources: Literature\nMode of inheritance for gene: RGS10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RGS10 were set to 34315806\nPhenotypes for gene: RGS10 were set to short stature; GH deficiency; immunodeficiency; hypergammaglobulinemia; reduced lymphocyte chemotaxis\nPenetrance for gene: RGS10 were set to unknown\nReview for gene: RGS10 was set to AMBER\nAdded comment: Chinn et al. a kindred with three affected siblings presenting with short stature and immunodeficiency and segregating with biallelic variants in RGS10 (c.489_491del:p.E163del and c.G511T:p.A171S). The affected individuals exhibited systemic abnormalities directly related to the RGS10 mutations, including recurrent infections, hypergammaglobulinemia, profoundly reduced lymphocyte chemotaxis, abnormal lymph node architecture, and short stature due to growth hormone deficiency. Some functional data is presented. \nSources: Literature",
"entity_name": "RGS10",
"entity_type": "gene"
},
{
"created": "2021-07-30T20:14:43.879335Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.452",
"user_name": "Boaz Palterer",
"item_type": "entity",
"text": "reviewed gene: ELF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory bowel disease, IBD, mucosal inflammation, fever, ulcers, Behcet-like disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ELF4",
"entity_type": "gene"
},
{
"created": "2021-07-30T08:56:05.058190Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.46",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1214",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-07-30T08:56:05.008153Z",
"panel_name": "Malformations of cortical development",
"panel_id": 96,
"panel_version": "2.46",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: DPYSL5 was added\ngene: DPYSL5 was added to Malformations of cortical development. Sources: Expert Review Amber,Literature\nQ3_21_rating tags were added to gene: DPYSL5.\nMode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DPYSL5 were set to 33894126\nPhenotypes for gene: DPYSL5 were set to Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-07-30T08:56:04.529116Z",
"panel_name": "Ataxia and cerebellar anomalies - narrow panel",
"panel_id": 477,
"panel_version": "2.223",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1214",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-07-30T08:56:04.470812Z",
"panel_name": "Ataxia and cerebellar anomalies - narrow panel",
"panel_id": 477,
"panel_version": "2.223",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: DPYSL5 was added\ngene: DPYSL5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber,Literature\nQ3_21_rating tags were added to gene: DPYSL5.\nMode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DPYSL5 were set to 33894126\nPhenotypes for gene: DPYSL5 were set to Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-07-30T08:37:56.627717Z",
"panel_name": "Gastrointestinal neuromuscular disorders",
"panel_id": 61,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTA2 was added\ngene: ACTA2 was added to Gastrointestinal neuromuscular disorders. Sources: Expert Review\nMode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACTA2 were set to 20734336; 29300374\nPhenotypes for gene: ACTA2 were set to Multisystemic smooth muscle dysfunction syndrome, MIM# 613834\nReview for gene: ACTA2 was set to GREEN\ngene: ACTA2 was marked as current diagnostic\nAdded comment: Multisystemic smooth muscle dysfunction syndrome (MSMDS) presents with a recognizable pattern of complications, including congenital mydriasis, patent ductus arteriosus (PDA), pulmonary artery hypertension, aortic and other arterial aneurysms, moyamoya-like cerebrovascular disease, intestinal hypoperistalsis and malrotation, and hypotonic bladder.\r\n\r\nMore than 40 unrelated individuals reported, missense at p.Arg179 position. \nSources: Expert Review",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2021-07-29T14:08:43.813030Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.1214",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: COG4 were set to 25529582",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-07-29T14:07:19.346384Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.1213",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Early developmental delay (speech and motor) can be a feature of Saul-Wilson syndrome (monoallelic inheritance), however cognition is normal. Therefore, the monoallelic form is not pertinent to this panel and the MOI should remain as biallelic only which is associated with CDG-IIj, including psychomotor retardation.",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-07-29T14:07:19.311764Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.1213",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-07-29T14:06:32.986946Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.1212",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review was removed from gene: COG4.",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-07-29T12:27:57.396043Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.400",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: COG4 were changed from to Congenital disorder of glycosylation, type IIj, OMIM:613489",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-07-29T12:27:34.076964Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.399",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG4 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-07-29T08:12:27.095137Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "2.112",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: WNT1 were changed from {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221; Osteogenesis imperfecta, type XV, 615220 to {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221; Osteogenesis imperfecta, type XV, OMIM:615220",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2021-07-29T08:11:50.112435Z",
"panel_name": "Osteogenesis imperfecta",
"panel_id": 196,
"panel_version": "2.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: WNT1 were changed from Osteogenesis imperfecta, type XV, 615220; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 to Osteogenesis imperfecta, type XV, OMIM:615220; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2021-07-29T08:11:20.442849Z",
"panel_name": "Osteogenesis imperfecta",
"panel_id": 196,
"panel_version": "2.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: WNT1 were set to 23434763; 2349931",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2021-07-29T08:10:06.699153Z",
"panel_name": "Osteogenesis imperfecta",
"panel_id": 196,
"panel_version": "2.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: WNT1 were changed from Osteogenesis imperfecta, type XV, 615220; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221; osteogenesis imperfecta to Osteogenesis imperfecta, type XV, 615220; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2021-07-29T08:09:11.198732Z",
"panel_name": "Osteogenesis imperfecta",
"panel_id": 196,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: WNT1 were set to PMID: 23434763; 2349931",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2021-07-29T08:09:07.519339Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "2.111",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: WNT1 were changed from osteogenesis imperfecta; OI/osteoporosis; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221; Osteogenesis imperfecta, type XV, 615220 to {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221; Osteogenesis imperfecta, type XV, 615220",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2021-07-28T15:40:39.303702Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "1.698",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: WNT1 were changed from OSTEOGENESIS IMPERFECTA to Osteogenesis imperfecta, type XV, OMIM:615220",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:40:34.175531Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.1212",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: MYCN were set to 21224895; 8470948",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:39:55.229342Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.1211",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: MYCN were changed from Feingold syndrome, 164280; FEINGOLD SYNDROME TYPE 1 to Feingold syndrome 1, OMIM:164280",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:39:11.577480Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.1210",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: MYCN were set to ",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:31:59.645436Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.1209",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: PTPN4 as Amber List (moderate evidence)",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:31:59.638638Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.1209",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. Based on the expert review, there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:31:59.616044Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.1209",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: ptpn4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:31:42.490341Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.1209",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: PTPN4 as Amber List (moderate evidence)",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:31:42.486825Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.1209",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. Based on the expert review, there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:31:42.455164Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.1209",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: ptpn4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:30:31.732387Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.1208",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: PTPN4.",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:12:27.769145Z",
"panel_name": "Ectodermal dysplasia",
"panel_id": 553,
"panel_version": "1.26",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDSN were changed from hypotrichosis simplex of the scalp; HYPT2; Hypotrichosis 2, 146520 to Hypotrichosis 2, OMIM:146520",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:09:43.947527Z",
"panel_name": "Non-syndromic hypotrichosis",
"panel_id": 189,
"panel_version": "1.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDSN were changed from hypotrichosis simplex of the scalp; Hypotrichosis 2, 146520; HYPT2 to Hypotrichosis 2, OMIM:146520",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:57:54.079355Z",
"panel_name": "Adult solid tumours cancer susceptibility",
"panel_id": 245,
"panel_version": "2.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDKN1B were changed from Thyroid cancer; Pituitary adenoma to Multiple endocrine neoplasia, type IV, OMIM:610755; Thyroid cancer; Pituitary adenoma",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:55:27.153578Z",
"panel_name": "Endocrine neoplasms",
"panel_id": 648,
"panel_version": "1.23",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDKN1B were changed from Endocrine Cancer; Multiple Endocrine Neoplasia; Multiple endocrine neoplasia, type IV, 610755 to Multiple endocrine neoplasia, type IV, OMIM:610755",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:55:14.716267Z",
"panel_name": "Multiple endocrine tumours",
"panel_id": 36,
"panel_version": "1.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDKN1B were changed from Multiple endocrine neoplasia, type IV, 610755; Multiple Endocrine Neoplasia; Endocrine Cancer to Multiple endocrine neoplasia, type IV, OMIM:610755",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:54:56.255475Z",
"panel_name": "Familial hyperparathyroidism",
"panel_id": 480,
"panel_version": "2.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDKN1B were changed from Multiple endocrine neoplasia, type IV (610755) to Multiple endocrine neoplasia, type IV, OMIM:610755",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:54:48.219074Z",
"panel_name": "Adult solid tumours for rare disease",
"panel_id": 391,
"panel_version": "1.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDKN1B were changed from Thyroid cancer; Pituitary adenoma to Multiple endocrine neoplasia, type IV, OMIM:610755; Thyroid cancer; Pituitary adenoma",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:53:35.676146Z",
"panel_name": "Neuroendocrine cancer pertinent cancer susceptibility",
"panel_id": 183,
"panel_version": "1.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDKN1B were changed from Neuroendocrine cancer to Multiple endocrine neoplasia, type IV, OMIM:610755",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:53:20.367780Z",
"panel_name": "Parathyroid Cancer",
"panel_id": 86,
"panel_version": "1.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDKN1B were changed from Pituitary Cancer, Parathyroid and Hypercalcemia to Multiple endocrine neoplasia, type IV, OMIM:610755; Pituitary Cancer, Parathyroid and Hypercalcemia",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:53:07.250186Z",
"panel_name": "Thyroid cancer pertinent cancer susceptibility",
"panel_id": 421,
"panel_version": "1.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDKN1B were changed from Thyroid cancer; Pituitary adenoma to Multiple endocrine neoplasia, type IV, OMIM:610755; Thyroid cancer; Pituitary adenoma",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:43:45.374408Z",
"panel_name": "Thyroid cancer pertinent cancer susceptibility",
"panel_id": 421,
"panel_version": "1.1",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDKN1B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:26:29.184229Z",
"panel_name": "Hereditary neuropathy NOT PMP22 copy number",
"panel_id": 846,
"panel_version": "1.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: GSN.",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:26:09.333229Z",
"panel_name": "Hereditary neuropathy NOT PMP22 copy number",
"panel_id": 846,
"panel_version": "1.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: GSN as Amber List (moderate evidence)",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:26:09.327469Z",
"panel_name": "Hereditary neuropathy NOT PMP22 copy number",
"panel_id": 846,
"panel_version": "1.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:26:09.288223Z",
"panel_name": "Hereditary neuropathy NOT PMP22 copy number",
"panel_id": 846,
"panel_version": "1.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: gsn has been classified as Amber List (Moderate Evidence).",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:25:11.441353Z",
"panel_name": "Hereditary neuropathy NOT PMP22 copy number",
"panel_id": 846,
"panel_version": "1.33",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GSN were changed from Amyloidosis; cranial neuropathy; peripheral neuropathy; cutis laxa; cardiomyopathy; arrhytmia to Amyloidosis, Finnish type, OMIM:105120; cranial neuropathy; peripheral neuropathy; cutis laxa; cardiomyopathy, MONDO:0004994; arrhythmia",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:24:48.347787Z",
"panel_name": "Hereditary neuropathy NOT PMP22 copy number",
"panel_id": 846,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: GSN were set to PMID: 33499149; 26339870",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2021-07-28T10:48:26.026689Z",
"panel_name": "Hereditary neuropathy NOT PMP22 copy number",
"panel_id": 846,
"panel_version": "1.31",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BSCL2 were changed from Lipodystrophy, congenital generalized, type 2 269700; Neuropathy, distal hereditary motor, type VA 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome 270685 to Neuropathy, distal hereditary motor, type VC, OMIM:619112",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2021-07-28T10:47:02.312885Z",
"panel_name": "Hereditary neuropathy",
"panel_id": 85,
"panel_version": "1.389",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BSCL2 were changed from Neuropathy, distal hereditary motor, type VA 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924; Lipodystrophy, congenital generalized, type 2 269700; Silver spastic paraplegia syndrome 270685 to Neuropathy, distal hereditary motor, type VC, OMIM:619112",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2021-07-28T10:42:29.494973Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, 270685 to Silver spastic paraplegia syndrome, OMIM:270685",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2021-07-28T10:42:16.072612Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "2.46",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, 270685 to Silver spastic paraplegia syndrome, OMIM:270685",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2021-07-28T10:42:08.411644Z",
"panel_name": "Hereditary spastic paraplegia",
"panel_id": 165,
"panel_version": "1.227",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, to Silver spastic paraplegia syndrome, OMIM:270685",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2021-07-28T10:40:15.777856Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.1208",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BSCL2 were changed from Encephalopathy, progressive, with or without lipodystrophy 615924; Lipodystrophy, congenital generalized, type 2 269700; Neuropathy, distal hereditary motor, type VA 600794; Silver spastic paraplegia syndrome 270685 to Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924; Lipodystrophy, congenital generalized, type 2, OMIM:269700",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2021-07-28T10:39:24.866250Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.1207",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_MOI tag was added to gene: BSCL2.",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2021-07-28T10:37:26.172399Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.1207",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Monoallelic variants lead to a motor neuropathy (MIM# 619112) or spastic paraplegia (MIM# 270685) presentation, both characterised by motor symptoms, but neither are associated with any cognitive deficits. On the other hand, biallelic variants cause encephalopathy (MIM# 615924) or generalised lipodystrophy (MIM# 269700) which do include cognitive decline and intellectual impairment, respectively. \r\n\r\nTherefore, the MOI should be changed from 'Both mono- and biallelic' to 'Biallelic' only at the next GMS panel review.",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2021-07-28T10:37:26.144161Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.1207",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: BSCL2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2021-07-28T10:09:36.991332Z",
"panel_name": "Craniosynostosis",
"panel_id": 168,
"panel_version": "2.50",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: RNU12 as Amber List (moderate evidence)",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2021-07-28T10:09:36.988238Z",
"panel_name": "Craniosynostosis",
"panel_id": 168,
"panel_version": "2.50",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting this gene from grey to amber. It could be promoted to green after GMS review as there are 3 unrelated cases with a craniosynostosis phenotype. However, variants in this gene would not currently be reported as it is not a protein coding gene. An Ensembl ID also needs to be added before it is promoted to green.",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2021-07-28T10:09:36.965424Z",
"panel_name": "Craniosynostosis",
"panel_id": 168,
"panel_version": "2.50",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: rnu12 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2021-07-28T10:07:11.150181Z",
"panel_name": "Craniosynostosis",
"panel_id": 168,
"panel_version": "2.49",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: RNU12.\nTag Q3_21_expert_review tag was added to gene: RNU12.",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2021-07-28T10:01:53.685735Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.398",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BSCL2 were changed from Intractable epilepsy and neurological regression; Encephalopathy, progressive, with or without lipodystrophy 615924; Lipodystrophy, congenital generalized, type 2 269700; Neuropathy, distal hereditary motor, type VA 600794; Silver spastic paraplegia syndrome 270685 to Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:59:24.543441Z",
"panel_name": "Craniosynostosis",
"panel_id": 168,
"panel_version": "2.49",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag currently-ngs-unreportable tag was added to gene: RNU12.",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:59:13.952625Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BSCL2 were changed from Berardinelli-Seip congenital lipodystrophy; Lipodystrophy, congenital generalized, type 2, 269700 to Lipodystrophy, congenital generalized, type 2, OMIM:269700",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:58:53.173108Z",
"panel_name": "Lipodystrophy - childhood onset",
"panel_id": 546,
"panel_version": "2.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BSCL2 were changed from Lipodystrophy, congenital generalized, type 2, 269700 to Lipodystrophy, congenital generalized, type 2, OMIM:269700; Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:57:34.956981Z",
"panel_name": "Insulin resistance (including lipodystrophy)",
"panel_id": 174,
"panel_version": "1.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BSCL2 were changed from Lipodystrophy, congenital generalized, type 2, 269700 to Lipodystrophy, congenital generalized, type 2, OMIM:269700; Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:56:26.073389Z",
"panel_name": "Familial diabetes",
"panel_id": 152,
"panel_version": "1.62",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BSCL2 were changed from Berardinelli-Seip congenital lipodystrophy to Lipodystrophy, congenital generalized, type 2, OMIM:269700",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:54:50.519501Z",
"panel_name": "Diabetes with additional phenotypes suggestive of a monogenic aetiology",
"panel_id": 26,
"panel_version": "1.63",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BSCL2 were changed from Berardinelli-Seip congenital lipodystrophy to Lipodystrophy, congenital generalized, type 2, OMIM:269700",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:03:16.498379Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.397",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: DLL1.\nTag for-review tag was added to gene: DLL1.",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2021-07-28T03:45:21.981494Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMTOR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 17195838, 24092934; Phenotypes: Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMTOR2",
"entity_type": "gene"
},
{
"created": "2021-07-28T03:35:58.265660Z",
"panel_name": "Craniosynostosis",
"panel_id": 168,
"panel_version": "2.49",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: RNU12 were changed from CDAGS syndrome MIM#603116; Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations to CDAGS syndrome, OMIM:603116; craniosynostosis-anal anomalies-porokeratosis syndrome, MONDO:001128",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2021-07-28T03:35:31.704244Z",
"panel_name": "Craniosynostosis",
"panel_id": 168,
"panel_version": "2.48",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "edited their review of gene: RNU12: Changed phenotypes to: CDAGS syndrome, OMIM:603116, craniosynostosis-anal anomalies-porokeratosis syndrome, MONDO:0011287",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2021-07-28T03:33:28.945410Z",
"panel_name": "Craniosynostosis",
"panel_id": 168,
"panel_version": "2.48",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: RNU12: Rating: ; Mode of pathogenicity: None; Publications: 34085356; Phenotypes: CDAGS syndrome, OMIM:603116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:55:18.964755Z",
"panel_name": "Limb disorders",
"panel_id": 384,
"panel_version": "2.48",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: LTBP1.",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:55:04.141087Z",
"panel_name": "Limb disorders",
"panel_id": 384,
"panel_version": "2.48",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: LTBP1 as Amber List (moderate evidence)",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:55:04.137922Z",
"panel_name": "Limb disorders",
"panel_id": 384,
"panel_version": "2.48",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting from red to amber but with a recommendation for green rating following GMS review. Individuals from 3 unrelated families reported with brachydactyly as part of a broader phenotype.",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:55:04.118803Z",
"panel_name": "Limb disorders",
"panel_id": 384,
"panel_version": "2.48",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: ltbp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:51:06.400608Z",
"panel_name": "Limb disorders",
"panel_id": 384,
"panel_version": "2.47",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: LTBP1 was added\ngene: LTBP1 was added to Limb disorders. Sources: Literature\nMode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LTBP1 were set to 33991472\nPhenotypes for gene: LTBP1 were set to Cutis laxa, autosomal recessive, type IIE, OMIM:619451; Brachydactyly, HP:0001156; Clinodactyly, HP:0030084; Syndactyly, HP:0001159\nReview for gene: LTBP1 was set to GREEN\nAdded comment: Associated with Cutis laxa, autosomal recessive, type IIE #619451 (AR) in OMIM. \r\n\r\nPMID: 33991472 - Pottie et al 2021 - report 8 individuals from 4 unrelated consanguineous families with 4 different homozygous premature truncating LTBP1 variants. Core clinical features include cutis laxa, craniosynostosis, a copper beaten calvarium, short stature, and discernible craniofacial characteristics. Brachydactyly was noted in 7/8 individuals, Clinodactyly in 7/8 individuals and Syndactyly in 5/8 individuals. \nSources: Literature",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:47:39.163968Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "2.110",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: Short stature was noted in 8/8 (100%) of the patients reported in PMID:33991472; to: Short stature was noted in 8/8 (100%) and Genua vara (bow-leggedness) in 3/8 (37.5) of the patients reported in PMID:33991472",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:40:28.572145Z",
"panel_name": "Ehlers Danlos syndromes",
"panel_id": 53,
"panel_version": "2.63",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: LTBP1 as Amber List (moderate evidence)",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:40:28.568317Z",
"panel_name": "Ehlers Danlos syndromes",
"panel_id": 53,
"panel_version": "2.63",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting from grey to amber with a recommendation for green rating following GMS review. 3 families reported where joint hyperlaxity is noted.",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:40:28.544959Z",
"panel_name": "Ehlers Danlos syndromes",
"panel_id": 53,
"panel_version": "2.63",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: ltbp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:38:44.806651Z",
"panel_name": "Ehlers Danlos syndromes",
"panel_id": 53,
"panel_version": "2.62",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: LTBP1 were changed from Cutis laxa; craniofacial dysmorphism; altered skeletal development, including short stature; brachydactyly; clinodactyly to Cutis laxa, autosomal recessive, type IIE, OMIM:619451; Joint hyperlaxity",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:38:27.351904Z",
"panel_name": "Ehlers Danlos syndromes",
"panel_id": 53,
"panel_version": "2.61",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: LTBP1 were set to PMID: 33991472",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:38:15.919541Z",
"panel_name": "Ehlers Danlos syndromes",
"panel_id": 53,
"panel_version": "2.60",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: LTBP1.",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:38:00.709544Z",
"panel_name": "Ehlers Danlos syndromes",
"panel_id": 53,
"panel_version": "2.60",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "edited their review of gene: LTBP1: Changed rating: GREEN; Changed publications to: 33991472; Changed phenotypes to: Cutis laxa, autosomal recessive, type IIE, OMIM:619451, Joint hyperlaxity; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:36:03.279499Z",
"panel_name": "Ehlers Danlos syndromes",
"panel_id": 53,
"panel_version": "2.60",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: LTBP1",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:32:47.590372Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "2.110",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: LTBP1: Short stature was noted in 8/8 (100%) of the patients reported in PMID:33991472",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:25:41.954194Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "2.110",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: OMIM phenotype added 28-07-2021",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:25:41.922185Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "2.110",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: LTBP1 were changed from inherited cutis laxa MONDO:0100237 to inherited cutis laxa MONDO:0100237; Cutis laxa, autosomal recessive, type IIE, OMIM:619451",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:22:41.028636Z",
"panel_name": "Craniosynostosis",
"panel_id": 168,
"panel_version": "2.48",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: LTBP1.",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:22:24.341267Z",
"panel_name": "Craniosynostosis",
"panel_id": 168,
"panel_version": "2.48",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: LTBP1 as Amber List (moderate evidence)",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:22:24.338492Z",
"panel_name": "Craniosynostosis",
"panel_id": 168,
"panel_version": "2.48",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting from grey to amber but with a recommendation for green rating following GMS review. 4 cases reported with craniosynostosis in 6/8 individuals",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:22:24.321517Z",
"panel_name": "Craniosynostosis",
"panel_id": 168,
"panel_version": "2.48",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: ltbp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:20:27.198327Z",
"panel_name": "Craniosynostosis",
"panel_id": 168,
"panel_version": "2.47",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: LTBP1 were changed from Craniosynostosis; cutis laxa; intelectual disability to Cutis laxa, autosomal recessive, type IIE, OMIM:619451; craniosynostosis, MONDO:0015469",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:20:04.353513Z",
"panel_name": "Craniosynostosis",
"panel_id": 168,
"panel_version": "2.46",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "edited their review of gene: LTBP1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T02:19:43.825585Z",
"panel_name": "Craniosynostosis",
"panel_id": 168,
"panel_version": "2.46",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: LTBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33991472; Phenotypes: Cutis laxa, autosomal recessive, type IIE, OMIM:619451, craniosynostosis, MONDO:0015469; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-28T01:52:58.091796Z",
"panel_name": "Craniosynostosis",
"panel_id": 168,
"panel_version": "2.46",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: CHD7 as Amber List (moderate evidence)",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-07-28T01:52:58.089234Z",
"panel_name": "Craniosynostosis",
"panel_id": 168,
"panel_version": "2.46",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting this gene from grey to amber with a recommedation of green rating following GMS review. 3 cases reported with a craniosynostosis phenotype and supported model organism data, although incomplete penetrance is noted.",
"entity_name": "CHD7",
"entity_type": "gene"
}
]
}