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"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=809",
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{
"created": "2022-06-02T11:41:40.849403+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.141",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: GIMAP6 as Green List (high evidence)",
"entity_name": "GIMAP6",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:41:40.827320+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.141",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: gimap6 has been classified as Green List (High Evidence).",
"entity_name": "GIMAP6",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:41:29.607955+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4814",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: PRPF8 was added\ngene: PRPF8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PRPF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRPF8 were set to 35543142\nPhenotypes for gene: PRPF8 were set to Intellectual disability; epilepsy; Retinitis pigmentosa 13 - MIM#600059\nReview for gene: PRPF8 was set to GREEN\nAdded comment: PMID 35543142 O'Grady et al 2022 report 14 unrelated individuals with heterozygous PRPF8 variants and ID, dymorphic features and epilepsy (7/14). Short stature, abnormal gait and cardiac anomalies also reported. 11 variants identified were de novo, 1 variant - maternal mosaicism, 1 variant - duo sequencing (not identified in mother, father could not be sequenced). 1 individual did not have parental testing. Cardiac anomalies varied and included benign cardiac tumour, dilated cardiomyopathy, dilated aortic root (COL5A2 VUS also identified), bicuspid aortic valve, cardiac arrest, self-resolving ASD/VSD.\r\n\r\nHeterozygous PRPF8 variants previously associated with retinitis pigmentosa. 1 out of the 14 individuals in this cohort had a diagnosis of RP. RP variants noted to cluster in the C'terminal MPN domain. The individual with RP in this paper had a variant in the preceding RNAase H homology domain near the C-terminus. Not all of the individuals in this paper had formal ophthalmological examination \nSources: Literature",
"entity_name": "PRPF8",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:41:17.135430+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.141",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: GIMAP6 as Green List (high evidence)",
"entity_name": "GIMAP6",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:41:17.116512+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.141",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: gimap6 has been classified as Green List (High Evidence).",
"entity_name": "GIMAP6",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:40:49.662720+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.140",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: GIMAP6 as Green List (high evidence)",
"entity_name": "GIMAP6",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:40:49.647587+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.140",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: gimap6 has been classified as Green List (High Evidence).",
"entity_name": "GIMAP6",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:40:26.439963+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.140",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: GIMAP6 as Green List (high evidence)",
"entity_name": "GIMAP6",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:40:26.431647+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.140",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: gimap6 has been classified as Green List (High Evidence).",
"entity_name": "GIMAP6",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:39:51.016601+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4814",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: BUB1 was added\ngene: BUB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: BUB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BUB1 were set to 35044816; 19772675; 19117986; 23209306\nPhenotypes for gene: BUB1 were set to Neurodevelopmental disorder, BUB1-related MONDO:0700092; Intellectual disability and microcephaly\nReview for gene: BUB1 was set to GREEN\ngene: BUB1 was marked as current diagnostic\nAdded comment: 2 unrelated patients with ID, microcephaly, short stature, dysmorphic features reported with biallelic variants:\r\n\r\nP1 (3yo male): homozygous start-loss variant (2 hets and 0 hom in gnomAD). Functional testing showed a small amount of full-length protein was translated, and BUB1 recruitment to kinetochores was nearly undetectable.\r\nP2 (16yo female): compound heterozygous for a canonical splice variant (1 het and no hom in gnomAD) and an NMD-predicted frameshift variant (absent from gnomAD). The splice variant was shown to result in an in-frame deletion of 54 amino acids in the kinase domain. P2 cells have reduced protein levels but essentially no kinase activity.\r\n\r\nBUB1 patient cells have impaired mitotic fidelity.\r\n\r\nHomozygous Bub1 disruption in mice is embryonic lethal (PMID:19772675). A hypomorphic mouse is viable with increased tumourigenesis with ageing and aneuploidy (PMID:19117986). A kinase-dead mouse does not show increased tumourigenesis but does have a high frequency of aneuploid cells (PMID:23209306) \nSources: Literature",
"entity_name": "BUB1",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:39:46.698365+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.140",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: GIMAP6 as Green List (high evidence)",
"entity_name": "GIMAP6",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:39:46.688088+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.140",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: gimap6 has been classified as Green List (High Evidence).",
"entity_name": "GIMAP6",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:39:42.751218+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.47",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PRPF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35543142; Phenotypes: Intellectual disability, epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRPF8",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:39:41.539234+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATOH1 were changed from Pontocerebellar hypoplasia; developmental delay; hearing loss to Pontocerebellar hypoplasia MONDO:0020135, ATOH1-related",
"entity_name": "ATOH1",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:39:25.566819+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATOH1 as Amber List (moderate evidence)",
"entity_name": "ATOH1",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:39:25.556293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atoh1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATOH1",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:39:16.967109+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.46",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PTPN13 as ready",
"entity_name": "PTPN13",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:39:16.956632+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.46",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ptpn13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTPN13",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:39:08.431948+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.46",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: PTPN13 as Amber List (moderate evidence)",
"entity_name": "PTPN13",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:39:08.420124+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.46",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ptpn13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTPN13",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:39:04.463881+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.139",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: GIMAP6 as ready",
"entity_name": "GIMAP6",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:39:04.450396+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.139",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: gimap6 has been classified as Red List (Low Evidence).",
"entity_name": "GIMAP6",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:38:50.181092+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.45",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: PTPN13 was added\ngene: PTPN13 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PTPN13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTPN13 were set to 35643866\nPhenotypes for gene: PTPN13 were set to bone marrow failure syndrome MONDO#0000159, PTPN13-related\nReview for gene: PTPN13 was set to AMBER\ngene: PTPN13 was marked as current diagnostic\nAdded comment: 2 families\r\n\r\nFamily A: 3 affecteds only 2 sequenced. Hom for a missense\r\n3/3 Anaemia, 1x thrombocytopaenia, 1x severe neutropaenia, bone marrow with pure red cell aplasia\r\nnoted that the sibling who wasn't sequenced had normal bone marrow morphology\r\n\r\nFamily B: Chet for a missense and inframe del of 1 amino acid\r\nPersistent hypogammaglobulinemia after transplant (at least 14 months after) with normal blood counts and Pre-B ALL with MLL rearrangement\r\n\r\nIn vitro studies of individual variants were LoF, including defective erythroid and megakaryocytic differentiation, consistent with anaemia and thrombocytopaenia reported in family A \nSources: Literature",
"entity_name": "PTPN13",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:38:04.688167+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.139",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: GIMAP6 was added\ngene: GIMAP6 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: GIMAP6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GIMAP6 were set to PMID: 35551368; 33328581\nPhenotypes for gene: GIMAP6 were set to Autophagy, immune competence and inflammation\nReview for gene: GIMAP6 was set to GREEN\nAdded comment: PMID: 35551368, PMID: 33328581 \r\n- K/O mice show autophagy, redox regulation, and polyunsaturated fatty acid (PUFA)–containing lipids and die prematurely from microangiopathic glomerulosclerosis with immunodeficiency. \r\n- 2 unrelated families (3 patients) w/ a homozygous missense (p.Gly153Val) and nonsense (p.Trp86*). All unaffected siblings were heterozygous. \r\nPatient 1 (missense) presented with Coombs-positive hemolytic anemia, hepatosplenomegaly, Cranial MRI showed bilateral effusions, sulcal hyperintensity, and lateral parietal subcortical acute focal ischemic lesions. \r\nPatient 2 (nonsense) presented with recurrent purulent otitis media and a chronic wet cough, persistent jaundice, recurrent chest and ear infections, lingular consolidation, mild bronchiectasis, bibasilar bronchial wall thickening, right peribronchial consolidation, right lower lobe bronchiectasis, bilateral axillary lymphadenopathy, and splenomegaly. \r\nPatient 3 (nonsense) presented with suffered headaches, abdomen pain, mouth ulcers, and recurrent infections \r\n\r\n- Functional studies show patient 1 (missense) with reduced protein expression on western blot, and patient 2/3 (nonsense) with no protein expression. T cells of Pt 1 were similar to mouse K/O model (elevated basal LC3-II, reduced autophagic flux). \r\n\r\ngnomAD: 0 homozygous PTCs, but a very common canonical splice which is present in the non-canonical transcript Sources: Literature \nSources: Literature",
"entity_name": "GIMAP6",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:37:50.000541+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.44",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: BUB1: Changed phenotypes: Neurodevelopmental disorder, BUB1-related MONDO:0700092, Intellectual disability and microcephaly",
"entity_name": "BUB1",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:37:00.586883+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEATR3 as ready",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:37:00.573804+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: heatr3 has been classified as Green List (High Evidence).",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:36:59.152672+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.44",
"user_name": "Chloe Stutterd",
"item_type": "entity",
"text": "gene: ATOH1 was added\ngene: ATOH1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ATOH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATOH1 were set to 35518571\nPhenotypes for gene: ATOH1 were set to Pontocerebellar hypoplasia; developmental delay; hearing loss\nPenetrance for gene: ATOH1 were set to unknown\nReview for gene: ATOH1 was set to AMBER\nAdded comment: Single report of novel homozygous missense variant in functional domain segregating with disease in two affected siblings with pontocerebellar hypoplasia, developmental delay and hearing loss. Similar phenotype previously reported in animal model with biallelic missense variant affecting same functional domain. Homology modelling predicts this missense variant affects binding capability of the bHLH domain to the DNA. Gene encodes a core transcription factor in developing cerebellum, brainstem, dorsal spinal cord and ear. \nSources: Literature",
"entity_name": "ATOH1",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:36:52.758908+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEATR3 as ready",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:36:52.746611+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: heatr3 has been classified as Green List (High Evidence).",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:36:49.192584+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HEATR3 as Green List (high evidence)",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:36:49.175307+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: heatr3 has been classified as Green List (High Evidence).",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:36:27.783229+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEATR3 as ready",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:36:27.774116+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: heatr3 has been classified as Green List (High Evidence).",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:36:27.679362+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HEATR3 as Green List (high evidence)",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:36:27.667133+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: heatr3 has been classified as Green List (High Evidence).",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:36:05.949886+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEATR3 were changed from Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability to Diamond Blackfan anaemia MONDO:0015253, HEATR3 related",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:35:11.438719+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HEATR3 as Green List (high evidence)",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:35:11.429969+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: heatr3 has been classified as Green List (High Evidence).",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:35:05.736062+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4814",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: SEMA6B was added\ngene: SEMA6B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SEMA6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEMA6B were set to PMID: 35604360\nPhenotypes for gene: SEMA6B were set to Intellectual disability, MONDO:0001071, SEMA6B related\nPenetrance for gene: SEMA6B were set to Complete\nReview for gene: SEMA6B was set to GREEN\nAdded comment: PMID: 35604360\r\n- 14 heterozygous variants were observed in 16 unrelated individuals referred for intellectual disability. Majority of the variants 9/14 were PTCs in the last exon and predicted to escape NMD. Functional studies of selected variants and shRNA knock down studies showed mislocalisation and abnormal protein function. \nSources: Literature",
"entity_name": "SEMA6B",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:34:26.297817+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEATR3 as ready",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:34:26.287654+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: heatr3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:34:15.161265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.44",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: BUB1 was added\ngene: BUB1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BUB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BUB1 were set to 35044816; 19772675; 19117986; 23209306\nPhenotypes for gene: BUB1 were set to Intellectual disability and microcephaly\nReview for gene: BUB1 was set to GREEN\ngene: BUB1 was marked as current diagnostic\nAdded comment: 2 unrelated patients with ID, microcephaly, short stature, dysmorphic features reported with biallelic variants:\r\n\r\nP1 (3yo male): homozygous start-loss variant (2 hets and 0 hom in gnomAD). Functional testing showed a small amount of full-length protein was translated, and BUB1 recruitment to kinetochores was nearly undetectable.\r\nP2 (16yo female): compound heterozygous for a canonical splice variant (1 het and no hom in gnomAD) and an NMD-predicted frameshift variant (absent from gnomAD). The splice variant was shown to result in an in-frame deletion of 54 amino acids in the kinase domain. P2 cells have reduced protein levels but essentially no kinase activity.\r\n\r\nBUB1 patient cells have impaired mitotic fidelity.\r\n\r\nHomozygous Bub1 disruption in mice is embryonic lethal (PMID:19772675). A hypomorphic mouse is viable with increased tumourigenesis with ageing and aneuploidy (PMID:19117986). A kinase-dead mouse does not show increased tumourigenesis but does have a high frequency of aneuploid cells (PMID:23209306) \nSources: Literature",
"entity_name": "BUB1",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:34:09.470429+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HEATR3 as Amber List (moderate evidence)",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:34:09.461567+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: heatr3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:33:21.830221+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.44",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: LMOD2 was added\ngene: LMOD2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LMOD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LMOD2 were set to PMID: 31517052; PMID: 34888509; PMID: 35082396; PMID: 35188328; PMID: 26487682\nPhenotypes for gene: LMOD2 were set to Dilated cardiomyopathy\nReview for gene: LMOD2 was set to GREEN\nAdded comment: 4 unrelated families with early onset dilated cardiomyopathy, autosomal recessive inheritance, functional studies showing loss of protein and a mouse model reported. \r\n\r\nPMID: 31517052 1 x neonate with DCM, homozygous nonsense variant identified.\r\n\r\nPMID: 34888509 2 x neonatal deaths (from 1 family) related to dilated cardiomyopathy (DCM), compound heterozygous loss-of-function variants identified.\r\n\r\nPMID:35082396 2 x siblings with DCM who died shortly after birth due to heart failure, homozygous canonical splice variant identified. Functional studies show loss of donor site and loss of protein.\r\n\r\nPMID: 35188328 1 x child (9 months) with DCM, with homozygous frameshift variant. Functional studies showed absence of LMOD2 protein (western blot). \r\n\r\nPMID: 26487682 Lmod2 null (knockout) mice present with short cardiac thin filaments and die at ~3 weeks due to dysfunctional, dilated hearts \nSources: Literature",
"entity_name": "LMOD2",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:32:50.980681+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEMA6B were changed from Progressive myoclonic epilepsy to Progressive myoclonic epilepsy; Intellectual disability, MONDO:0001071, SEMA6B related",
"entity_name": "SEMA6B",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:32:26.409597+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRRM2 were changed from Developmental disorders to Neurodevelopmental disorder MONDO:0700092 SRRM2-related",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:31:55.820029+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEMA6B were set to 32169168",
"entity_name": "SEMA6B",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:30:56.855914+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.41",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "changed review comment from: PMID: 35213692:\r\n- 4 unrelated individuals with biallelic HEATR3 variants (missense and splice site variants), exhibiting bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability.\r\n- Functional analysis showed HEATR3 variants destabilised the protein, resulting in a reduction of nuclear uL18 and impaired ribosome biogenesis.\r\n\r\nBone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability \nSources: Literature; to: PMID: 35213692:\r\n- 4 unrelated individuals with biallelic HEATR3 variants (missense and splice site variants), exhibiting bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability.\r\n- Functional analysis showed HEATR3 variants destabilised the protein, resulting in a reduction of nuclear uL18 and impaired ribosome biogenesis.\r\n",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:30:53.447557+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1612",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: NOVA2 were set to 32197073",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:30:16.508490+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.2",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: HEATR3 was added\ngene: HEATR3 was added to Diamond Blackfan anaemia. Sources: Literature\nMode of inheritance for gene: HEATR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HEATR3 were set to PMID: 35213692\nPhenotypes for gene: HEATR3 were set to Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related\nReview for gene: HEATR3 was set to GREEN\ngene: HEATR3 was marked as current diagnostic\nAdded comment: PMID: 35213692:\r\n- 4 unrelated individuals with biallelic HEATR3 variants (missense and splice site variants), exhibiting bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability.\r\n- Functional analysis showed HEATR3 variants destabilised the protein, resulting in a reduction of nuclear uL18 and impaired ribosome biogenesis. \nSources: Literature",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:30:03.371492+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1611",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: NOVA2 as Green List (high evidence)",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:30:03.358516+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1611",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: nova2 has been classified as Green List (High Evidence).",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:29:24.494256+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.41",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SEMA6B",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:29:18.005855+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.41",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: HEATR3 was added\ngene: HEATR3 was added to Growth failure. Sources: Literature\nMode of inheritance for gene: HEATR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HEATR3 were set to PMID: 35213692\nPhenotypes for gene: HEATR3 were set to Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related\nReview for gene: HEATR3 was set to GREEN\ngene: HEATR3 was marked as current diagnostic\nAdded comment: PMID: 35213692:\r\n- 4 unrelated individuals with biallelic HEATR3 variants (missense and splice site variants), exhibiting bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability.\r\n- Functional analysis showed HEATR3 variants destabilised the protein, resulting in a reduction of nuclear uL18 and impaired ribosome biogenesis.\r\n\r\nBone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability \nSources: Literature",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:29:14.479288+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1610",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: NOVA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35607920; Phenotypes: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:29:10.091643+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SRRM2 as Green List (high evidence)",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:29:10.076713+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srrm2 has been classified as Green List (High Evidence).",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:28:09.453820+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4813",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: HEATR3 was added\ngene: HEATR3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: HEATR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HEATR3 were set to PMID: 35213692\nPhenotypes for gene: HEATR3 were set to Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related\nReview for gene: HEATR3 was set to AMBER\ngene: HEATR3 was marked as current diagnostic\nAdded comment: PMID: 35213692:\r\n- 4 unrelated individuals with biallelic HEATR3 variants (missense and splice site variants), exhibiting bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability.\r\n- Functional analysis showed HEATR3 variants destabilised the protein, resulting in a reduction of nuclear uL18 and impaired ribosome biogenesis. \nSources: Literature",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:27:37.353246+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.40",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "commented on gene: SEMA6B: PMID: 35604360\r\n- 14 heterozygous variants were observed in 16 unrelated individuals referred for intellectual disability. Majority of the variants 9/14 were PTCs in the last exon and predicted to escape NMD. Functional studies of selected variants and shRNA knock down studies showed mislocalisation and abnormal protein function.",
"entity_name": "SEMA6B",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:27:32.061507+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.40",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: SEMA6B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35604360; Phenotypes: Intellectual disability, MONDO:0001071, SEMA6B related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SEMA6B",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:27:15.466073+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.40",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: GIMAP6 as ready",
"entity_name": "GIMAP6",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:27:15.452228+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.40",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: gimap6 has been classified as Green List (High Evidence).",
"entity_name": "GIMAP6",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:27:13.280323+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.40",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: GIMAP6 as Green List (high evidence)",
"entity_name": "GIMAP6",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:27:13.266137+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.40",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: gimap6 has been classified as Green List (High Evidence).",
"entity_name": "GIMAP6",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:26:44.508863+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEATR3 were changed from Diamond Blackfan anaemia, MONDO:0015253, HEATR3 related to Diamond Blackfan anaemia, MONDO:0015253, HEATR3 related",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:26:33.074469+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEATR3 as ready",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:26:33.062086+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: heatr3 has been classified as Green List (High Evidence).",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:26:01.617850+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.15",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: PTPN13 was added\ngene: PTPN13 was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: PTPN13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTPN13 were set to 35643866\nPhenotypes for gene: PTPN13 were set to bone marrow failure syndrome MONDO#0000159, PTPN13-related\nReview for gene: PTPN13 was set to AMBER\ngene: PTPN13 was marked as current diagnostic\nAdded comment: 2 families\r\n\r\nFamily A: 3 affecteds only 2 sequenced. Hom for a missense\r\n3/3 Anaemia, 1x thrombocytopaenia, 1x severe neutropaenia, bone marrow with pure red cell aplasia \r\nnoted that the sibling who wasn't sequenced had normal bone marrow morphology\r\n\r\nFamily B: Chet for a missense and inframe del of 1 amino acid\r\nPersistent hypogammaglobulinemia after transplant (at least 14 months after) with normal blood counts and Pre-B ALL with MLL rearrangement\r\n\r\nIn vitro studies of individual variants were LoF, including defective erythroid and megakaryocytic differentiation, consistent with anaemia and thrombocytopaenia reported in family A \nSources: Literature",
"entity_name": "PTPN13",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:24:58.939356+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRRM2 were changed from Developmental disorders to neurodevelopmental disorder MONDO:0700092 SRRM2-related",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:24:45.136729+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.15",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: PTPN13 was added\ngene: PTPN13 was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: PTPN13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTPN13 were set to 35643866\nPhenotypes for gene: PTPN13 were set to bone marrow failure syndrome MONDO#0000159, PTPN13-related\nReview for gene: PTPN13 was set to AMBER\ngene: PTPN13 was marked as current diagnostic\nAdded comment: 2 families\r\n\r\nFamily A: 3 affecteds only 2 sequenced. Hom for a missense\r\n3/3 Anaemia, 1x thrombocytopaenia, 1x severe neutropaenia, bone marrow with pure red cell aplasia \r\nnoted that the sibling who wasn't sequenced had normal bone marrow morphology\r\n\r\nFamily B: Chet for a missense and inframe del of 1 amino acid\r\nPersistent hypogammaglobulinemia after transplant (at least 14 months after) with normal blood counts and Pre-B ALL with MLL rearrangement\r\n\r\nIn vitro studies of individual variants were LoF, including defective erythroid and megakaryocytic differentiation, consistent with anaemia and thrombocytopaenia reported in family A \nSources: Literature",
"entity_name": "PTPN13",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:24:24.224770+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEATR3 were changed from DiMONDO:0015253 to Diamond Blackfan anaemia, MONDO:0015253, HEATR3 related",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:24:19.786402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.37",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: IREB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35602653; Phenotypes: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IREB2",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:23:15.769365+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEATR3 were changed from Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability to DiMONDO:0015253",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:23:01.399355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.36",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: SRRM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35567594; Phenotypes: neurodevelopmental disorder MONDO:0700092 SRRM2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:22:49.574935+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HEATR3 as Green List (high evidence)",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:22:49.562435+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: heatr3 has been classified as Green List (High Evidence).",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:22:19.632377+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.35",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: GIMAP6 was added\ngene: GIMAP6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GIMAP6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GIMAP6 were set to PMID: 35551368; 33328581\nPhenotypes for gene: GIMAP6 were set to Autophagy, immune competence and inflammation\nReview for gene: GIMAP6 was set to AMBER\nAdded comment: PMID: 35551368, PMID: 33328581\r\n- K/O mice show autophagy, redox regulation, and polyunsaturated fatty acid (PUFA)–containing lipids and die prematurely from microangiopathic glomerulosclerosis with immunodeficiency.\r\n- 2 unrelated families (3 patients) w/ a homozygous missense (p.Gly153Val) and nonsense (p.Trp86*). All unaffected siblings were heterozygous.\r\nPatient 1 (missense) presented with Coombs-positive hemolytic anemia, hepatosplenomegaly, Cranial MRI showed bilateral effusions, sulcal hyperintensity, and lateral parietal subcortical acute focal ischemic lesions.\r\nPatient 2 (nonsense) presented with recurrent purulent otitis media and a chronic wet cough, persistent jaundice, recurrent chest and ear infections, lingular consolidation, mild bronchiectasis, bibasilar bronchial wall thickening, right peribronchial consolidation, right lower lobe bronchiectasis, bilateral axillary lymphadenopathy, and splenomegaly.\r\nPatient 3 (nonsense) presented with suffered headaches, abdomen pain, mouth ulcers, and recurrent infections\r\n\r\n- Functional studies show patient 1 (missense) with reduced protein expression on western blot, and patient 2/3 (nonsense) with no protein expression. T cells of Pt 1 were similar to mouse K/O model (elevated basal LC3-II, reduced autophagic flux).\r\n\r\ngnomAD: 0 homozygous PTCs, but a very common canonical splice which is present in the non-canonical transcript \nSources: Literature",
"entity_name": "GIMAP6",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:20:21.940157+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SRRM2 as Green List (high evidence)",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:20:21.924753+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srrm2 has been classified as Green List (High Evidence).",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:19:05.716135+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.14",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: HEATR3 was added\ngene: HEATR3 was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: HEATR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HEATR3 were set to PMID: 35213692\nPhenotypes for gene: HEATR3 were set to Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability\nReview for gene: HEATR3 was set to GREEN\ngene: HEATR3 was marked as current diagnostic\nAdded comment: PMID: 35213692:\r\n- 4 unrelated individuals with biallelic HEATR3 variants (missense and splice site variants), exhibiting bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability.\r\n- Functional analysis showed HEATR3 variants destabilised the protein, resulting in a reduction of nuclear uL18 and impaired ribosome biogenesis. \nSources: Literature",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:18:04.121539+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.34",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: HEATR3 was added\ngene: HEATR3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HEATR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HEATR3 were set to PMID: 35213692\nPhenotypes for gene: HEATR3 were set to Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability\nReview for gene: HEATR3 was set to GREEN\ngene: HEATR3 was marked as current diagnostic\nAdded comment: PMID: 35213692:\r\n- 4 unrelated individuals with biallelic HEATR3 variants (missense and splice site variants), exhibiting bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability.\r\n- Functional analysis showed HEATR3 variants destabilised the protein, resulting in a reduction of nuclear uL18 and impaired ribosome biogenesis. \nSources: Literature",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:17:33.734754+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4811",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: SRRM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35567594; Phenotypes: neurodevelopmental disorder MONDO:0700092 SRRM2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:16:49.106119+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM47 as ready",
"entity_name": "TRIM47",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:16:49.092923+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim47 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM47",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:16:36.470463+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIM47 was added\ngene: TRIM47 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TRIM47 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRIM47 were set to 35511193\nPhenotypes for gene: TRIM47 were set to Genetic cerebral small vessel disease MONDO:0018787\nReview for gene: TRIM47 was set to RED\nAdded comment: GWAS data: Combined evidence from summary-based Mendelian randomization studies and profiling of human loss-of-function allele carriers showed an inverse relation between TRIM47 expression in the brain and blood vessels and extensive small vessel disease severity. Observed significant enrichment of Trim47 in isolated brain vessel preparations compared to total brain fraction in mice, in line with the literature showing Trim47 enrichment in brain endothelial cells at single cell level. Functional evaluation of TRIM47 by small interfering RNAs-mediated knockdown in human brain endothelial cells showed increased endothelial permeability, an important hallmark of cerebral small vessel disease pathology. \nSources: Literature",
"entity_name": "TRIM47",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:14:56.744810+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM47 as ready",
"entity_name": "TRIM47",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:14:56.732887+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim47 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM47",
"entity_type": "gene"
},
{
"created": "2022-06-02T11:14:47.692487+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIM47 was added\ngene: TRIM47 was added to Stroke. Sources: Literature\nMode of inheritance for gene: TRIM47 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRIM47 were set to 35511193\nPhenotypes for gene: TRIM47 were set to Genetic cerebral small vessel disease MONDO:0018787\nReview for gene: TRIM47 was set to RED\nAdded comment: GWAS data:\r\n\r\nCombined evidence from summary-based Mendelian randomization studies and profiling of human loss-of-function allele carriers showed an inverse relation between TRIM47 expression in the brain and blood vessels and extensive small vessel disease severity. Observed significant enrichment of Trim47 in isolated brain vessel preparations compared to total brain fraction in mice, in line with the literature showing Trim47 enrichment in brain endothelial cells at single cell level. Functional evaluation of TRIM47 by small interfering RNAs-mediated knockdown in human brain endothelial cells showed increased endothelial permeability, an important hallmark of cerebral small vessel disease pathology. \nSources: Literature",
"entity_name": "TRIM47",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:56:46.780225+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL12A1 as ready",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:56:46.765535+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col12a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:56:42.061538+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL12A1 were changed from to Ullrich congenital muscular dystrophy 2 , MIM# 616470",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:56:08.854347+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL12A1 were set to ",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:55:38.494346+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL12A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:55:08.194925+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL12A1 as Amber List (moderate evidence)",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:55:08.183077+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col12a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:54:36.086252+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL12A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24334604; Phenotypes: Ullrich congenital muscular dystrophy 2 , MIM# 616470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:50:56.818060+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHKB as ready",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:50:56.806300+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chkb has been classified as Green List (High Evidence).",
"entity_name": "CHKB",
"entity_type": "gene"
}
]
}