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{
"count": 214520,
"next": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?format=api&page=5",
"previous": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?format=api&page=3",
"results": [
{
"created": "2024-04-17T17:50:04.731729Z",
"panel_name": "Primary immunodeficiency or monogenic inflammatory bowel disease",
"panel_id": 398,
"panel_version": "4.200",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: PTCRA were changed from Autoimmunity; elevated TCRgamma/delta T cells; lymphopenia; low TREC to Autoimmunity, HP:0002960; lymphopenia, MONDO:0003783",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-04-17T17:49:48.991956Z",
"panel_name": "Primary immunodeficiency or monogenic inflammatory bowel disease",
"panel_id": 398,
"panel_version": "4.199",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_24_promote_green tag was added to gene: PTCRA.",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-04-17T17:49:34.504723Z",
"panel_name": "Primary immunodeficiency or monogenic inflammatory bowel disease",
"panel_id": 398,
"panel_version": "4.199",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: PTCRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 38422122; Phenotypes: Autoimmunity, HP:0002960, lymphopenia, MONDO:0003783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-04-17T15:27:28.689167Z",
"panel_name": "Hereditary neuropathy or pain disorder",
"panel_id": 846,
"panel_version": "3.92",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: GAN were set to 1106248",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2024-04-17T15:26:34.334024Z",
"panel_name": "Hereditary neuropathy or pain disorder",
"panel_id": 846,
"panel_version": "3.91",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: GAN as Amber List (moderate evidence)",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2024-04-17T15:26:34.328176Z",
"panel_name": "Hereditary neuropathy or pain disorder",
"panel_id": 846,
"panel_version": "3.91",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene should be promoted to Green at the next GMS panel update as the scope of this panel has now been expanded to include complex cases of neuropathy.\r\nBiallelic variants in the GAN gene cause giant axonal neuropathy. This childhood onset polyneuropathy results in progressive neurodegeneration of both the peripheral and central nervous systems. More than 10 unrelated cases have been reported in the literature which is sufficient for making this gene Green (PMIDs: 18595793; 19231187; 20949505; 27852232; 36866531)",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2024-04-17T15:26:34.292217Z",
"panel_name": "Hereditary neuropathy or pain disorder",
"panel_id": 846,
"panel_version": "3.91",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: gan has been classified as Amber List (Moderate Evidence).",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2024-04-17T15:10:02.694102Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.531",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Biallelic variants in the GAN gene cause giant axonal neuropathy, characterised by abnormalities in the peripheral and central nervous systems. Though extent of CNS involvement can vary, intellectual disability has been reported in at least 3 unrelated cases to date (PMID: 18595793; 19231187). Therefore, this gene should be promoted to Green at the next GMS panel update.; to: Comment on list classification: Biallelic variants in the GAN gene cause giant axonal neuropathy, characterised by abnormalities in the peripheral and central nervous systems. Though extent of CNS involvement can vary, intellectual disability has been reported in at least 3 unrelated cases (PMID: 18595793; 19231187). Therefore, this gene should be promoted to Green at the next GMS panel update.",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2024-04-17T15:09:31.141883Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.531",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_24_promote_green tag was added to gene: GAN.\nTag Q2_24_NHS_review tag was added to gene: GAN.",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2024-04-17T15:08:54.499870Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.531",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: GAN were set to ",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2024-04-17T15:07:54.165581Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.530",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: GAN as Amber List (moderate evidence)",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2024-04-17T15:07:54.158137Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.530",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Biallelic variants in the GAN gene cause giant axonal neuropathy, characterised by abnormalities in the peripheral and central nervous systems. Though extent of CNS involvement can vary, intellectual disability has been reported in at least 3 unrelated cases to date (PMID: 18595793; 19231187). Therefore, this gene should be promoted to Green at the next GMS panel update.",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2024-04-17T15:07:54.109325Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.530",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: gan has been classified as Amber List (Moderate Evidence).",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2024-04-17T14:30:05.075762Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.22",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "reviewed gene: COASY: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35499143; Phenotypes: Pontocerebellar hypoplasia type 12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2024-04-17T14:15:28.081469Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.22",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "reviewed gene: PIP5K1C: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38491417; Phenotypes: Lethal congenital contractural syndrome 3 611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2024-04-17T14:11:26.246453Z",
"panel_name": "Hereditary neuropathy or pain disorder",
"panel_id": 846,
"panel_version": "3.90",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_24_promote_green tag was added to gene: GAN.\nTag Q2_24_NHS_review tag was added to gene: GAN.",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2024-04-17T14:06:53.038029Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.22",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "reviewed gene: SLC18A3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34943989; Phenotypes: Myasthenic syndrome, congenital, 21, presynaptic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2024-04-17T13:59:54.731564Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.22",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "reviewed gene: TRIP4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31794073; Phenotypes: Spinal muscular atrophy with congenital bone fractures 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2024-04-17T13:12:54.615871Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.529",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: GAN was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2024-04-17T13:11:44.855114Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.528",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GAN were changed from to Giant axonal neuropathy-1, OMIM:256850",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2024-04-17T13:10:56.718839Z",
"panel_name": "Hereditary neuropathy",
"panel_id": 85,
"panel_version": "1.477",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GAN were changed from Giant axonal neuropathy-1 to Giant axonal neuropathy-1, OMIM:256850",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2024-04-17T13:10:04.429906Z",
"panel_name": "Hereditary neuropathy or pain disorder",
"panel_id": 846,
"panel_version": "3.90",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GAN were changed from Giant axonal neuropathy-1 to Giant axonal neuropathy-1, OMIM:256850",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2024-04-17T12:39:37.486290Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.527",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: SEPHS1 as Amber List (moderate evidence)",
"entity_name": "SEPHS1",
"entity_type": "gene"
},
{
"created": "2024-04-17T12:39:37.480562Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.527",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.",
"entity_name": "SEPHS1",
"entity_type": "gene"
},
{
"created": "2024-04-17T12:39:37.431264Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.527",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: sephs1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEPHS1",
"entity_type": "gene"
},
{
"created": "2024-04-17T12:38:42.062310Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.526",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: SEPHS1 as Amber List (moderate evidence)",
"entity_name": "SEPHS1",
"entity_type": "gene"
},
{
"created": "2024-04-17T12:38:42.041371Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.526",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: sephs1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEPHS1",
"entity_type": "gene"
},
{
"created": "2024-04-17T12:38:06.955741Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.525",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: SEPHS1 was added\ngene: SEPHS1 was added to Intellectual disability - microarray and sequencing. Sources: Literature\nQ2_24_promote_green tags were added to gene: SEPHS1.\nMode of inheritance for gene: SEPHS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SEPHS1 were set to 38531365\nPhenotypes for gene: SEPHS1 were set to Neurodevelopmental disorder, MONDO:0700092\nReview for gene: SEPHS1 was set to GREEN\nAdded comment: Mullegama et al. (2024) reported 9 individuals from 8 families with developmental delay, growth and feeding problems, hypotonia, and dysmorphic features, all with heterozygous missense variants in SEPHS1. Eight individuals shared different missense variants at the same p.Arg371 residue in SEPHS1 (p.Arg371Trp, p.Arg371Gln, and p.Arg371Gly); seven of these variants were confirmed as de novo (one unknown). Functional studies showed that variants at the Arg371 residue impact direct protein-protein interactions of SEPSH1 and enhance cell proliferation by modulating ROS homeostasis. \nSources: Literature",
"entity_name": "SEPHS1",
"entity_type": "gene"
},
{
"created": "2024-04-17T10:33:09.383639Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.155",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: GRM1 as Red List (low evidence)",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2024-04-17T10:33:09.378766Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.155",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Zornitza Stark. Could not find any evidence of prenatal phenotypes in patients with GRM1 variants.",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2024-04-17T10:33:09.342447Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.155",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: grm1 has been classified as Red List (Low Evidence).",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2024-04-17T10:27:02.106075Z",
"panel_name": "Stickler syndrome",
"panel_id": 3,
"panel_version": "4.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: LRP2 as Red List (low evidence)",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2024-04-17T10:27:02.086865Z",
"panel_name": "Stickler syndrome",
"panel_id": 3,
"panel_version": "4.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.\r\n\r\nOnly a single family reported with features overlapping those of Stickler syndrome (PMID:23992033), mainly based on their ocular phenotype, including high myopia, vitreous changes, cataract and esotropia. LRP2 variants are typically associated with Donnai-Barrow syndrome and facio-oculo-acoustico-renal syndrome which are not relevant to this panel.",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2024-04-17T10:27:02.034332Z",
"panel_name": "Stickler syndrome",
"panel_id": 3,
"panel_version": "4.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: lrp2 has been classified as Red List (Low Evidence).",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2024-04-17T10:13:38.576767Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: FCGR3B as Red List (low evidence)",
"entity_name": "FCGR3B",
"entity_type": "gene"
},
{
"created": "2024-04-17T10:13:38.572188Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.\r\n\r\nAlso note review from Helen Brittain (Genomics England Clinical Team) on 100K panel Cytopenias and congenital anaemias (159) from 9 Mar 2017:\r\n\r\n\"Relevant phenotype affects neutrophils only, on a transient basis owing to presence of antibodies in mother and antigen in fetus (as a result of different genetic factors in father and mother.). Therefore not a germline condition associated with mutations in the child.\"",
"entity_name": "FCGR3B",
"entity_type": "gene"
},
{
"created": "2024-04-17T10:13:38.531079Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: fcgr3b has been classified as Red List (Low Evidence).",
"entity_name": "FCGR3B",
"entity_type": "gene"
},
{
"created": "2024-04-17T09:59:59.622212Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: ADAMTS2 as Red List (low evidence)",
"entity_name": "ADAMTS2",
"entity_type": "gene"
},
{
"created": "2024-04-17T09:59:59.616707Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.",
"entity_name": "ADAMTS2",
"entity_type": "gene"
},
{
"created": "2024-04-17T09:59:59.574870Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: adamts2 has been classified as Red List (Low Evidence).",
"entity_name": "ADAMTS2",
"entity_type": "gene"
},
{
"created": "2024-04-17T09:48:21.636996Z",
"panel_name": "Dilated and arrhythmogenic cardiomyopathy",
"panel_id": 652,
"panel_version": "2.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_24_promote_green tag was added to gene: MYZAP.",
"entity_name": "MYZAP",
"entity_type": "gene"
},
{
"created": "2024-04-17T09:48:02.223599Z",
"panel_name": "Dilated and arrhythmogenic cardiomyopathy",
"panel_id": 652,
"panel_version": "2.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MYZAP",
"entity_type": "gene"
},
{
"created": "2024-04-17T09:47:55.543251Z",
"panel_name": "Dilated and arrhythmogenic cardiomyopathy",
"panel_id": 652,
"panel_version": "2.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: MYZAP were set to 34899865; 20093627; 35840178",
"entity_name": "MYZAP",
"entity_type": "gene"
},
{
"created": "2024-04-17T09:47:27.240512Z",
"panel_name": "Dilated and arrhythmogenic cardiomyopathy",
"panel_id": 652,
"panel_version": "2.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: MYZAP as Amber List (moderate evidence)",
"entity_name": "MYZAP",
"entity_type": "gene"
},
{
"created": "2024-04-17T09:47:27.229254Z",
"panel_name": "Dilated and arrhythmogenic cardiomyopathy",
"panel_id": 652,
"panel_version": "2.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added to the panel by Aleš Maver. MYZAP is not yet associated with any phenotype in OMIM or Gene2Phenoype. At least three unrelated families have been reported with biallelic LOF variants in MYZAP and a phenotype of DCM (PMIDs: 34899865; 35840178; 38436102). Studies in zebrafish and mice demonstrate the link between MYZAP and cardiomyopathy (PMIDs: 20093627; 24698889). Overall, the evidence is sufficient to promote this gene to Green at the next GMS panel update.",
"entity_name": "MYZAP",
"entity_type": "gene"
},
{
"created": "2024-04-17T09:47:27.203791Z",
"panel_name": "Dilated and arrhythmogenic cardiomyopathy",
"panel_id": 652,
"panel_version": "2.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: myzap has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYZAP",
"entity_type": "gene"
},
{
"created": "2024-04-17T09:47:26.629348Z",
"panel_name": "Dilated and arrhythmogenic cardiomyopathy",
"panel_id": 652,
"panel_version": "2.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: MYZAP as Amber List (moderate evidence)",
"entity_name": "MYZAP",
"entity_type": "gene"
},
{
"created": "2024-04-17T09:47:26.619757Z",
"panel_name": "Dilated and arrhythmogenic cardiomyopathy",
"panel_id": 652,
"panel_version": "2.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added to the panel by Aleš Maver. MYZAP is not yet associated with any phenotype in OMIM or Gene2Phenoype. At least three unrelated families have been reported with biallelic LOF variants in MYZAP and a phenotype of DCM (PMIDs: 34899865; 35840178; 38436102). Studies in zebrafish and mice demonstrate the link between MYZAP and cardiomyopathy (PMIDs: 20093627; 24698889). Overall, the evidence is sufficient to promote this gene to Green at the next GMS panel update.",
"entity_name": "MYZAP",
"entity_type": "gene"
},
{
"created": "2024-04-17T09:47:26.566767Z",
"panel_name": "Dilated and arrhythmogenic cardiomyopathy",
"panel_id": 652,
"panel_version": "2.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: myzap has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYZAP",
"entity_type": "gene"
},
{
"created": "2024-04-17T09:27:04.659582Z",
"panel_name": "Hypogonadotropic hypogonadism (GMS)",
"panel_id": 650,
"panel_version": "3.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: NDNF as Green List (high evidence)",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2024-04-17T09:27:04.654185Z",
"panel_name": "Hypogonadotropic hypogonadism (GMS)",
"panel_id": 650,
"panel_version": "3.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Gene was re-reviewed in light of an Amber review by Zornitza Stark (Australian Genomics) on a Green gene. At least five unrelated cases have been reported, as well as mouse and zebrafish studies showing Ndnf deficiency leads to anomalies in GnRH neuron migration. Pedigree analysis does indicate variable expressivity and incomplete penetrance, although this is relatively common in dominant forms of HH. Furthermore, inclusion of NDNF on this panel has already been reviewed and approved by the NHS specialist group and therefore the Green rating is being maintained.",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2024-04-17T09:27:04.630671Z",
"panel_name": "Hypogonadotropic hypogonadism (GMS)",
"panel_id": 650,
"panel_version": "3.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ndnf has been classified as Green List (High Evidence).",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2024-04-17T09:18:32.375301Z",
"panel_name": "Hypogonadotropic hypogonadism (GMS)",
"panel_id": 650,
"panel_version": "3.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: NDNF were changed from Congenital hypogonadotropic hypogonadism (CHH); Hypogonadotropic hypogonadism 25 with anosmia, 618841 to Hypogonadotropic hypogonadism 25 with anosmia, OMIM:618841",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2024-04-17T09:18:14.721748Z",
"panel_name": "Hypogonadotropic hypogonadism (GMS)",
"panel_id": 650,
"panel_version": "3.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: NDNF were set to 31883645",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2024-04-17T09:17:52.480696Z",
"panel_name": "Hypogonadotropic hypogonadism (GMS)",
"panel_id": 650,
"panel_version": "3.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: NDNF: PMID: 36245975 (2022) - another male patient with idiopathic hypogonadotropin hypogonadism identified harbouring a paternally inherited NDNF variant (c.1439T>A, p.Ile480Asn)",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2024-04-16T23:15:55.245476Z",
"panel_name": "Hereditary spastic paraplegia",
"panel_id": 165,
"panel_version": "1.311",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: As there are sufficient number of cases with biallelic variants and lower limb spasticity, the MOI has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-16T23:15:55.218500Z",
"panel_name": "Hereditary spastic paraplegia",
"panel_id": 165,
"panel_version": "1.311",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: RTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-16T23:14:34.666622Z",
"panel_name": "Hereditary spastic paraplegia",
"panel_id": 165,
"panel_version": "1.310",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: RTN2 were changed from Spastic paraplegia 12, autosomal dominant to Spastic paraplegia 12, autosomal dominant, OMIM:604805; distal hereditary motor neuropathy, MONDO:0018894; Lower limb spasticity, HP:0002061",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-16T23:14:06.009271Z",
"panel_name": "Hereditary spastic paraplegia",
"panel_id": 165,
"panel_version": "1.309",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: RTN2 were set to Montenegro et al. (2012) ",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-16T23:13:29.313269Z",
"panel_name": "Hereditary spastic paraplegia",
"panel_id": 165,
"panel_version": "1.308",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38527963; Phenotypes: distal hereditary motor neuropathy, MONDO:0018894, Lower limb spasticity, HP:0002061; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-16T22:50:16.961757Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.42",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: As there are sufficient number of cases with biallelic variants and lower limb spasticity, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update.",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-16T22:50:16.939020Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.42",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: RTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-16T22:48:42.731575Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.41",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: RTN2 were changed from Spastic paraplegia 12, autosomal dominant, 604805 to Spastic paraplegia 12, autosomal dominant, OMIM:604805; distal hereditary motor neuropathy, MONDO:0018894; Lower limb spasticity, HP:0002061",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-16T22:47:55.714676Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.40",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: RTN2 were set to 22232211; 24123792; 28362824",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-16T22:47:10.471361Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.39",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_24_MOI tag was added to gene: RTN2.\nTag Q2_24_NHS_review tag was added to gene: RTN2.",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-16T22:44:35.592828Z",
"panel_name": "Hereditary neuropathy or pain disorder",
"panel_id": 846,
"panel_version": "3.89",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: PMID:38527963 reported the identification of seven novel or ultra-rare homozygous loss-of-function RTN2 variants in 14 individuals from seven unrelated families with distal hereditary motor neuropathy. \r\n\r\nAll affected individuals exhibited weakness in the distal upper and lower limbs, lower limb spasticity, hyperreflexia, with an onset in the first decade of life. Nerve conduction studies revealed axonal motor neuropathy with neurogenic changes in the electromyography.\r\n\r\nCharacterisation of C. elegans RTN2 homolog loss-of-function variants demonstrated morphological and behavioural differences compared to the parental strain and treatment with an endoplasmic/sarcoplasmic reticulum Ca(2+) re-uptake inhibitor (2,5-di-tert-butylhydroquinone) rescued key phenotypic differences.\r\n\r\nBiallelic variants in RTN2 gene have not yet been associated with any phenotypes in OMIM or Gene2Phenotype, while monoallelic variants have been associated with spastic paraplegia (MIM #604805) in OMIM. \r\nSources: Literature; to: PMID:38527963 reported the identification of seven novel or ultra-rare homozygous loss-of-function RTN2 variants in 14 individuals from seven unrelated families with distal hereditary motor neuropathy. \r\n\r\nAll affected individuals exhibited weakness in the distal upper and lower limbs, lower limb spasticity, hyperreflexia, with an onset in the first decade of life. Nerve conduction studies revealed axonal motor neuropathy with neurogenic changes in the electromyography.\r\n\r\nCharacterisation of C. elegans RTN2 homolog loss-of-function variants demonstrated morphological and behavioural differences compared to the parental strain, and treatment with an endoplasmic/sarcoplasmic reticulum Ca(2+) re-uptake inhibitor (2,5-di-tert-butylhydroquinone) rescued key phenotypic differences.\r\n\r\nBiallelic variants in RTN2 gene have not yet been associated with any phenotypes in OMIM or Gene2Phenotype, while monoallelic variants have been associated with spastic paraplegia (MIM #604805) in OMIM. \r\nSources: Literature",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-16T22:44:11.095113Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.39",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38527963; Phenotypes: distal hereditary motor neuropathy, MONDO:0018894, Lower limb spasticity, HP:0002061; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-16T22:01:07.768996Z",
"panel_name": "Hereditary neuropathy or pain disorder",
"panel_id": 846,
"panel_version": "3.89",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: PMID:38527963 reported the identification of seven novel or ultra-rare homozygous loss-of-function RTN2 variants in 14 individuals from seven unrelated families with distal hereditary motor neuropathy. \r\n\r\nAll affected individuals (seven males and seven females, aged 9-50 years) exhibited weakness in the distal upper and lower limbs, lower limb spasticity, hyperreflexia, with an onset in the first decade of life. Nerve conduction studies revealed axonal motor neuropathy with neurogenic changes in the electromyography.\r\n\r\nCharacterisation of C. elegans RTN2 homolog loss-of-function variants demonstrated morphological and behavioural differences compared to the parental strain and treatment with an endoplasmic/sarcoplasmic reticulum Ca(2+) re-uptake inhibitor (2,5-di-tert-butylhydroquinone) rescued key phenotypic differences.\r\n\r\nBiallelic variants in RTN2 gene have not yet been associated with any phenotypes in OMIM or Gene2Phenotype, while monoallelic variants have been associated with spastic paraplegia (MIM #604805) in OMIM. \nSources: Literature; to: PMID:38527963 reported the identification of seven novel or ultra-rare homozygous loss-of-function RTN2 variants in 14 individuals from seven unrelated families with distal hereditary motor neuropathy. \r\n\r\nAll affected individuals exhibited weakness in the distal upper and lower limbs, lower limb spasticity, hyperreflexia, with an onset in the first decade of life. Nerve conduction studies revealed axonal motor neuropathy with neurogenic changes in the electromyography.\r\n\r\nCharacterisation of C. elegans RTN2 homolog loss-of-function variants demonstrated morphological and behavioural differences compared to the parental strain and treatment with an endoplasmic/sarcoplasmic reticulum Ca(2+) re-uptake inhibitor (2,5-di-tert-butylhydroquinone) rescued key phenotypic differences.\r\n\r\nBiallelic variants in RTN2 gene have not yet been associated with any phenotypes in OMIM or Gene2Phenotype, while monoallelic variants have been associated with spastic paraplegia (MIM #604805) in OMIM. \r\nSources: Literature",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:48:37.483451Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: COL5A2 as Red List (low evidence)",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:48:37.478522Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:48:37.427400Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: col5a2 has been classified as Red List (Low Evidence).",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:47:59.040756Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: COL5A1 as Red List (low evidence)",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:47:59.036119Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:47:59.000733Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: col5a1 has been classified as Red List (Low Evidence).",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:47:37.538815Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: COL4A5 as Red List (low evidence)",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:47:37.532865Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:47:37.466240Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: col4a5 has been classified as Red List (Low Evidence).",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:47:10.200681Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: COL4A4 as Red List (low evidence)",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:47:10.189516Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:47:10.117712Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: col4a4 has been classified as Red List (Low Evidence).",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:46:37.650813Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: COL4A3 as Red List (low evidence)",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:46:37.646200Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:46:37.601127Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: col4a3 has been classified as Red List (Low Evidence).",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:45:23.245690Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: COL3A1 as Red List (low evidence)",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:45:23.233187Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:45:23.139811Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: col3a1 has been classified as Red List (Low Evidence).",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:45:14.436442Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: COL1A2 as Red List (low evidence)",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:45:14.423159Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:45:14.339211Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: col1a2 has been classified as Red List (Low Evidence).",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:44:09.520990Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: COL1A1 as Red List (low evidence)",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:44:09.505936Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:44:09.430207Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: col1a1 has been classified as Red List (Low Evidence).",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:05:37.736926Z",
"panel_name": "Autoinflammatory disorders",
"panel_id": 1075,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: IL17RA.",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:05:28.579303Z",
"panel_name": "Autoinflammatory disorders",
"panel_id": 1075,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: IL17RA as Amber List (moderate evidence)",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:05:28.575116Z",
"panel_name": "Autoinflammatory disorders",
"panel_id": 1075,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants have been found patients with immunodeficiency, presenting as chronic mucocutaneous candidiasis (PMID: 21350122).\r\n\r\nInterleukin-17A (IL-17A) is a pro-inflammatory cytokine implicated in diverse autoimmune and inflammatory disorders such as psoriasis and Kawasaki disease so it is plausible that the interleukin-17A receptor (IL-17RA) could contribute to the same pathway. \r\n\r\nLiterature review did reveal multiple mouse models where IL-17RA was shown to promote the inflammatory response (PMID: 38060620; 30364284; 35844540; 38451335); however, there is no evidence of human cases where a variant in the IL17RA gene caused an autoinflammatory disorder. Therefore rating as Amber with a watchlist tag, awaiting further evidence.",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2024-04-16T15:05:28.498157Z",
"panel_name": "Autoinflammatory disorders",
"panel_id": 1075,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: il17ra has been classified as Amber List (Moderate Evidence).",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2024-04-16T14:37:43.471733Z",
"panel_name": "Primary immunodeficiency or monogenic inflammatory bowel disease",
"panel_id": 398,
"panel_version": "4.199",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes: Candidiasis, familial, 5;Chronic mucocutaneous candidiasis (CMC);Immunodeficiency 51, 613953;Defects in Intrinsic and Innate Immunity;CMC, folliculitis;Defects in Intrinsic and Innate Immunity",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2024-04-16T14:37:43.436325Z",
"panel_name": "Primary immunodeficiency or monogenic inflammatory bowel disease",
"panel_id": 398,
"panel_version": "4.199",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: IL17RA were changed from Candidiasis, familial, 5; Chronic mucocutaneous candidiasis (CMC); Immunodeficiency 51, 613953; Defects in Intrinsic and Innate Immunity; CMC, folliculitis; Defects in Intrinsic and Innate Immunity to Immunodeficiency 51, OMIM:613953",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2024-04-16T14:37:18.199052Z",
"panel_name": "Autoinflammatory disorders",
"panel_id": 1075,
"panel_version": "1.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: IL17RA were changed from Immunodeficiency-51 to Immunodeficiency 51, OMIM:613953",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2024-04-16T14:25:10.994455Z",
"panel_name": "Likely inborn error of metabolism - targeted testing not possible",
"panel_id": 467,
"panel_version": "4.137",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes: Combined B and T cell defect;Adenosine deaminase deficiency (Disorders of purine metabolism);SCID;Infantile enterocolitis & monogenic inflammatory bowel disease",
"entity_name": "ADA",
"entity_type": "gene"
}
]
}