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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1834",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1832",
"results": [
{
"created": "2020-04-20T13:57:51.403790+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNNM4 were changed from to Jalili syndrome\t217080; amelogenesis imperfecta, cone-rod dystrophy",
"entity_name": "CNNM4",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:57:34.999230+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYCN were set to ",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:57:08.366806+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYCN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:55:42.445402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2368",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 11138011, 12034785, 31004048, 15732097; Phenotypes: Leukodystrophy, macrocephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:55:14.263621+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATM as ready",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:55:14.254346+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atm has been classified as Green List (High Evidence).",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:55:02.468276+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNNM4 were set to ",
"entity_name": "CNNM4",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:54:26.562765+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNNM4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNNM4",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:53:22.486110+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:52:51.020077+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2365",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: COPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31455335, 30804679; Phenotypes: Autoimmune interstitial lung, joint, and kidney disease, MIM 616414; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "COPA",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:50:28.003012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2365",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "changed review comment from: PMID: 31844321; Wünnemann 2020: 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype \r\nSources: Expert Review; to: Borderline amber/green\r\nPMID: 31844321; Wünnemann 2020: 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype \r\nSources: Expert Review",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:44:22.683383+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2365",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:18571142, 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:43:31.487985+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2365",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "changed review comment from: PMID: 31844321; Wünnemann 2020: 4 affected in unrelated 2 consanguineous family with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype \nSources: Expert Review; to: PMID: 31844321; Wünnemann 2020: 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype \r\nSources: Expert Review",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:42:02.965257+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2365",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "reviewed gene: PLOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18834968, 31129566, 30237576, 30463024; Phenotypes: Lysyl hydroxylase 3 deficiency, MIM#612394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:39:51.551620+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2365",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: SAMD12 was added\ngene: SAMD12 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SAMD12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SAMD12 were set to 30194086; 29507423\nPhenotypes for gene: SAMD12 were set to Epilepsy, familial adult myoclonic, 1 601068\nReview for gene: SAMD12 was set to GREEN\nAdded comment: Repeat expansions of intronic TTTCA and TTTTA motifs within SAMD12 have been identified in over 50 Japanese and Chinese families. Most families with affected individuals were heterozygous however 4 patients from 3 families had homozygous repeat expansions, which was associated with a more severe phenotype. Western blot analysis showed decreased levels of the protein in patient brains. \nSources: Literature",
"entity_name": "SAMD12",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:38:50.499845+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.26",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32276433, 31373179; Phenotypes: Joubert syndrome 10, MIM 300804, Orofaciodigital syndrome I, MIM 311200, Simpson-Golabi-Behmel syndrome, type 2, MIM 300209; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:37:45.088792+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2365",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: FUS was added\ngene: FUS was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FUS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FUS were set to PMID: 32281455; 20668259; 20385912\nPhenotypes for gene: FUS were set to Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia\t608030; Essential tremor, hereditary, 4\t614782\nMode of pathogenicity for gene: FUS was set to Other\nReview for gene: FUS was set to GREEN\nAdded comment: PMID: 32281455 - Reports a case of Pediatric Amyotrophic Lateral Sclerosis. Reviews and shows multiple other reports of ALS casued by FUS\r\n\r\nPMID: 20668259 - additional reports of ALS\r\n\r\nPMID: 20385912 - postulated that disruption of this region may disrupt subcellular distribution of FUS, in turn affecting transcription and RNA processing and conferring a toxic gain of function. \nSources: Literature",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:36:12.956497+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.26",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:36:05.571980+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.26",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "commented on gene: OFD1",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:36:02.475785+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.26",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:35:44.742043+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2365",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 8954725, 20503311, 23335591, 25564734, 31015262; Phenotypes: Skeletal dysplasia, spondylocostal dysostosis, congenital scoliosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:35:39.810423+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.26",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31373179, 31373179; Phenotypes: Joubert syndrome 10, MIN 300804, Orofaciodigital syndrome I, MIN 311200, Simpson-Golabi-Behmel syndrome, type 2, MIM 300209; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:35:02.227257+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2365",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: UBE3A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:33:12.207310+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2365",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: ADAMTS19 was added\ngene: ADAMTS19 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS19 were set to 31844321\nPhenotypes for gene: ADAMTS19 were set to Non-syndromic heart valve disease\nReview for gene: ADAMTS19 was set to GREEN\nAdded comment: PMID: 31844321; Wünnemann 2020: 4 affected in unrelated 2 consanguineous family with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype \nSources: Expert Review",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:30:52.803365+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2365",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "changed review comment from: De novo in 2 unrelated patients. Decrease in ELOVL1 enzyme activity. The same 2 patients are in PMIDs: 30487246 and 29496980 but with different clinical findings. Deafness and optic atrophy are the additional features.; to: De novo missense (S165F) in 2 unrelated patients. Decrease in ELOVL1 enzyme activity. The same 2 patients are in PMIDs: 30487246 and 29496980 but with different clinical findings. Deafness and optic atrophy are the additional features.",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:29:47.667561+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2365",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: C9orf72 was added\ngene: C9orf72 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: C9orf72 were set to PMID: 30120348; 23284068\nPhenotypes for gene: C9orf72 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 \t105550\nReview for gene: C9orf72 was set to AMBER\nAdded comment: Possibly RED\r\n\r\nCaused by expansion of GGGGCC repeats, dont know if these qualify for mendeliome \nSources: Literature",
"entity_name": "C9orf72",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:28:13.760188+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2365",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "reviewed gene: ELOVL1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30487246, 29496980; Phenotypes: ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness, optic atrophy, nystagmus; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:20:55.082643+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2365",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: TNFRSF21 as ready",
"entity_name": "TNFRSF21",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:20:55.074041+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2365",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: tnfrsf21 has been classified as Red List (Low Evidence).",
"entity_name": "TNFRSF21",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:20:43.783674+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2365",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: TNFRSF21 as Red List (low evidence)",
"entity_name": "TNFRSF21",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:20:43.779607+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2365",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Report of single family \r\nLimited functional evidence: tissue expression studies",
"entity_name": "TNFRSF21",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:20:43.746594+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2365",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: tnfrsf21 has been classified as Red List (Low Evidence).",
"entity_name": "TNFRSF21",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:15:43.124877+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2364",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: YARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 30304524, 29232904, 27633801, 19561293; Phenotypes: peripheral neuropathy, multisystem disease, CMT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "YARS",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:14:44.988499+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2364",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: CFAP65 was added\ngene: CFAP65 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CFAP65 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP65 were set to 31501240; 31413122\nPhenotypes for gene: CFAP65 were set to Spermatogenic failure 40\t618664\nPenetrance for gene: CFAP65 were set to unknown\nReview for gene: CFAP65 was set to GREEN\ngene: CFAP65 was marked as current diagnostic\nAdded comment: 9 patients with multiple morphological abnormalities of the sperm flagella (MMAF) or completely immotile spermatozoa, in which, homozygous or compound heterozygous truncating CFAP65 variants were identified. Cfap65-mutated male mice displayed typical MMAF phenotypes with severe morphological abnormalities of the sperm flagella (PMID: 31501240, 31413122). \nSources: Literature",
"entity_name": "CFAP65",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:05:09.885239+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2364",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: CAP2 was added\ngene: CAP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAP2 were set to 30518548\nPhenotypes for gene: CAP2 were set to Dilated cardiomyopathy\nReview for gene: CAP2 was set to AMBER\nAdded comment: 2 patients with dilated cardiomyopathy from 1 consanguineous family. The splice variant identified in this family was proven to cause exon skipping and functional studies showed protein level was reduced. A Cap2 knockout mouse model correlated with the clinical phenotype of DCM and cardiac conduction disease, but not the other effects on growth, viability, wound healing and eye development. \nSources: Literature",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:01:44.317079+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2364",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: USP45 as ready",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:01:44.308399+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2364",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: usp45 has been classified as Green List (High Evidence).",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:01:16.596257+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2364",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: USP45 as Green List (high evidence)",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:01:16.589784+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2364",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Two unrelated families\r\nFunctional studies in animal model recapitulate retinal phenotype",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:01:16.543617+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2364",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: usp45 has been classified as Green List (High Evidence).",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:00:36.579369+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYCP2 as ready",
"entity_name": "SYCP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:00:36.570315+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sycp2 has been classified as Green List (High Evidence).",
"entity_name": "SYCP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T13:00:00.011571+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SYCP2 as Green List (high evidence)",
"entity_name": "SYCP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:59:59.993625+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sycp2 has been classified as Green List (High Evidence).",
"entity_name": "SYCP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:59:58.198491+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2362",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 31586944; Phenotypes: Insulin-like growth factor I, resistance to 270450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:59:56.120945+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2362",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:59:49.195894+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2362",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30368457, 12754708, 25754450; Phenotypes: Dravet Syndrome, Genetic Epilepsy Febrile Seizures plus (GEFS+) Syndrome, Febrile seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:59:16.324929+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SYCP2 was added\ngene: SYCP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SYCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SYCP2 were set to 32092049; 31866047\nPhenotypes for gene: SYCP2 were set to Male infertility\nReview for gene: SYCP2 was set to GREEN\nAdded comment: Four individuals and a zebrafish model. \nSources: Literature",
"entity_name": "SYCP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:58:45.708591+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.33",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: COASY as ready",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:58:45.702326+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.33",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Currently only two families reported with cerebellar hypoplasia.",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:58:45.657026+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.33",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: coasy has been classified as Red List (Low Evidence).",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:58:28.635318+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2361",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:58:02.744575+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.33",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: COASY as Red List (low evidence)",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:58:02.735956+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.33",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: coasy has been classified as Red List (Low Evidence).",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:56:38.042965+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2361",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30842225.; Phenotypes: syndromic X-linked microphthalmia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:55:36.434882+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2361",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:48:25.603987+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.32",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CWF19L1 was added\ngene: CWF19L1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CWF19L1 were set to PMID:26197978; 25361784; 27016154; 15981765\nPhenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17\t616127\nReview for gene: CWF19L1 was set to GREEN\nAdded comment: Cerebellar hypoplasia predominantly affecting the vermis (OMIM)\r\n\r\nPMID: 26197978 - 1 child with severe cerebellar hypoplasia (see below)\r\n\r\nPMID: 25361784 - 1 family (2 siblings) with hypoplasia in the vermis and cerebellar hemispheres. Zebrafish animal model showed defective cerebellar structure and diminished staining\r\n\r\nPMID: 27016154 - 1 family (1 child) with early onset cerebellar atrophy, proven by serial MRIs. Authors specify this is NOT hypoplasia, and highlight that PMID: 26197978 incorrectly reported hypoplasia instead of atrophy. Authors also acknowledge that hypoplasia and atrophy may be both occurring. Also notes MRI results from PMID: 15981765 have been published in PMID: 25361784.\r\n\r\nPMID: 15981765 - 3 unrelated families (3 sibling pairs) with cerebellar hemisphere and vermis hypoplasia. Described as non-progressive. \nSources: Expert Review",
"entity_name": "CWF19L1",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:39:13.406071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2361",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: SOD2: Rating: RED; Mode of pathogenicity: None; Publications: 31494578; Phenotypes: Lethal neonatal dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SOD2",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:34:15.038470+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.37",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: SMPD4 as ready",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:34:15.028483+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.37",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: smpd4 has been classified as Green List (High Evidence).",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:34:12.517063+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.37",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: SMPD4 as Green List (high evidence)",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:34:12.505218+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.37",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: smpd4 has been classified as Green List (High Evidence).",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:33:16.980800+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2361",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "reviewed gene: ASCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30327447, 12077347, 26924529, 31880396, 26503956; Phenotypes: Arthrogryposis, congenital bone fractures, spinal muscular atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:33:05.646953+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.36",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: SMPD4 was added\ngene: SMPD4 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMPD4 were set to 31495489\nPhenotypes for gene: SMPD4 were set to Microcephaly; congenital arthrogryposis, intellectual disability\nReview for gene: SMPD4 was set to GREEN\ngene: SMPD4 was marked as current diagnostic\nAdded comment: Expansion of phenotype in known neurodevelopment disease gene\r\n12 unrelated families reported. Arthrogryposis is a feature in 85% \nSources: Literature",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:32:53.526494+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2361",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29967133; Phenotypes: Aortic and arterial aneurysmal disease, connective tissue disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:32:13.345673+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2361",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21224895, 8470948, 30573562; Phenotypes: Feingold syndrome 1, megalencephaly, ventriculomegaly, hypoplastic corpus callosum, intellectual disability, polydactyly, neuroblastoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:29:50.458947+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZMYND11 as ready",
"entity_name": "ZMYND11",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:29:50.449799+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmynd11 has been classified as Green List (High Evidence).",
"entity_name": "ZMYND11",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:29:22.234284+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZMYND11 were changed from to Mental retardation, autosomal dominant 30, MIM# 616083",
"entity_name": "ZMYND11",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:29:02.217972+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2361",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:28:40.850415+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZMYND11 were set to ",
"entity_name": "ZMYND11",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:28:13.066822+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZMYND11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZMYND11",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:27:37.981584+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZMYND11: Rating: GREEN; Mode of pathogenicity: None; Publications: 32097528; Phenotypes: Mental retardation, autosomal dominant 30, MIM# 616083; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZMYND11",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:27:29.782897+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2361",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 30573562; case report of an individual with a missense in MYCN with functional studies done in neuronal progenitor/stem cells demonstrating gain-of-function; to: PMID: 30573562; case report of an individual with a missense in MYCN with functional studies done in neuronal progenitor/stem cells demonstrating gain-of-function",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:27:04.634398+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2361",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: RXFP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31167797, 20963592; Phenotypes: Cryptorchidism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:26:49.850859+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2361",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: PKDCC was added\ngene: PKDCC was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PKDCC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PKDCC were set to PMID:30478137; 19097194\nPhenotypes for gene: PKDCC were set to Dysmorphism; shortening of extremities\nReview for gene: PKDCC was set to AMBER\ngene: PKDCC was marked as current diagnostic\nAdded comment: 2 (\"apparently\") unrelated individuals with homozygous LoF (1x nonsense, 1x canonical splice) variants reported. Their phenotype is similar to knockout mice. \nSources: Literature",
"entity_name": "PKDCC",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:25:53.828817+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2361",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: DHH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31018998, 29471294, 11017805; Phenotypes: gonadal dysgenesis, minifascicular neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:24:53.986092+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2361",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: MYCN: Added comment: PMID: 30573562; case report of an individual with a missense in MYCN with functional studies done in neuronal progenitor/stem cells demonstrating gain-of-function; Changed rating: RED; Changed publications: PMID: 30573562; Changed phenotypes: megalencephaly, ventriculomegaly, hypoplastic corpus callosum, intellectual disability, polydactyly, neuroblastoma",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:24:15.702185+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.14",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: DHH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31018998, 29471294, 11017805.; Phenotypes: gonadal dysgenesis, minifascicular neuropathy.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:22:03.921914+10:00",
"panel_name": "Visceral Myopathy",
"panel_id": 3087,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYH11 as ready",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:22:03.898393+10:00",
"panel_name": "Visceral Myopathy",
"panel_id": 3087,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh11 has been classified as Green List (High Evidence).",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:22:00.939968+10:00",
"panel_name": "Visceral Myopathy",
"panel_id": 3087,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH11 were changed from Patent ductus arteriosus in 1 individual; Aortic aneurysm, familial thoracic 4, 132900 to Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:21:34.842131+10:00",
"panel_name": "Visceral Myopathy",
"panel_id": 3087,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYH11 were set to 31044419; 31427716; 25407000",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:21:23.637670+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2528",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: MAB21L1: Rating: ; Mode of pathogenicity: None; Publications: 27103078, 30487245; Phenotypes: Syndromic scrotal agenesis, syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome), Cerebello-Oculo-Facio-Genital syndrome; Mode of inheritance: None",
"entity_name": "MAB21L1",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:21:19.443524+10:00",
"panel_name": "Visceral Myopathy",
"panel_id": 3087,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYH11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:21:07.425114+10:00",
"panel_name": "Visceral Myopathy",
"panel_id": 3087,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 31944481; Phenotypes: Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive, Dominant smooth muscle dysmotility syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:16:27.471481+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLD1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:16:20.092518+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLD1 as ready",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:16:20.082161+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pold1 has been classified as Green List (High Evidence).",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:16:16.282810+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLD1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:15:54.297480+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2361",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18470948, 21224895; Phenotypes: Feingold syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:15:43.063782+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLD1 as Green List (high evidence)",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:15:43.050074+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pold1 has been classified as Green List (High Evidence).",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:15:07.902803+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLD1 was added\ngene: POLD1 was added to Deafness. Sources: Literature\nMode of inheritance for gene: POLD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: POLD1 were set to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381; Non-syndromic deafness\nReview for gene: POLD1 was set to GREEN\nAdded comment: Established gene-disease association for mono-allelic variants with syndromic condition MIM#615381, which has deafness as a feature. Recent report of 5 individuals from a single family segregating bi-allelic variants in this gene and non-syndromic deafness. Please note association with non-syndromic deafness does not currently meet evidence threshold for Green rating. \nSources: Literature",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:10:05.226481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2361",
"user_name": "Shannon Cowie",
"item_type": "entity",
"text": "gene: TNFRSF21 was added\ngene: TNFRSF21 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: TNFRSF21 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TNFRSF21 were set to PMID: 31189563\nPhenotypes for gene: TNFRSF21 were set to high myopia\nReview for gene: TNFRSF21 was set to RED\ngene: TNFRSF21 was marked as current diagnostic\nAdded comment: Source: JMG review Oct 2019\r\nLarge Chinese family, including 12 patients with non-syndromic HM\r\nImmunofluorescence assay indicated that it is strongly expressed in the mouse eye. \nSources: Other",
"entity_name": "TNFRSF21",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:04:49.944194+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2361",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "gene: USP45 was added\ngene: USP45 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: USP45 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP45 were set to 30573563\nPhenotypes for gene: USP45 were set to Leber congenital amaurosis; retinal dystrophy\nReview for gene: USP45 was set to GREEN\nAdded comment: 2 unrelated Chinese families reported with rare homozygous variants (one missense, one nonsense) and Leber congenital amaurosis. Animal knockout functional studies supported gene-disease association.\r\n\r\nPMID: 30573563 \"By analysing WES data based on allele frequencies of in-house controls, population allele frequencies and in silico prediction tools, two rare homozygous mutations in USP45 were identified in two unrelated families. Immunohistochemistry of USP45 in the human and zebrafish retinal sections revealed enriched expression in the inner segments of photoreceptors. The knockdown of usp45 transcript in zebrafish led to abnormal retinal development with effects on photoreceptors, which could be successfully rescued by wild-type usp45 mRNA. Moreover, targeted knockout of Usp45 in mice caused abnormal electroretinography responses, similar to that seen in patients with LCA.\" \nSources: Literature",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2020-04-20T12:03:12.214421+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.32",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: COASY was added\ngene: COASY was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COASY were set to PMID: 30089828; 27021474; 24360804\nPhenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6\t615643; Pontocerebellar hypoplasia, type 12\t618266\nReview for gene: COASY was set to AMBER\nAdded comment: Emerging genotype-phenotype association:\r\n\r\nPMID: 30089828 - 2 families (4 affecteds) with pontocerebellar hypoplasia. All patients have variants resulting in near-null protein expression. Same patient listed in Decipher.\r\n\r\nPMID: 27021474 - Patient with NBIA, has a homozygous missense and is 17 years old. Patient had MRI, no mention of cerebellar hypoplasia/atrophy\r\n\r\nPMID: 24360804 - Two patients (one chet PTC and missense, other a homozygous missense). Both patients had brain MRI, no mention of cerebellar hypoplasia/atrophy\r\n\r\nSummary: \r\nIf residual activity -> NBIA phenotype, no cerebellar issues\r\nIf completely or near null - pontocerebellar hypoplasia \nSources: Expert Review",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2020-04-20T11:51:57.038164+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2361",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CNNM4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30705057; Phenotypes: Jalili syndrome (amelogenesis imperfecta, cone-rod dystrophy); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNNM4",
"entity_type": "gene"
},
{
"created": "2020-04-20T11:49:51.159559+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2361",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 30819809; Phenotypes: Ataxia-telangiectasia MIM#208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2020-04-20T11:43:06.070704+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BAZ2B as ready",
"entity_name": "BAZ2B",
"entity_type": "gene"
}
]
}