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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=534",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=532",
"results": [
{
"created": "2023-11-02T12:32:46.564774+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5601",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: DLG2 as ready",
"entity_name": "DLG2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:32:46.543202+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5601",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: dlg2 has been classified as Red List (Low Evidence).",
"entity_name": "DLG2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:32:27.387621+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1333",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: DLG2 was added\ngene: DLG2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DLG2 were set to PMID: 37860969\nPhenotypes for gene: DLG2 were set to Intellectual disability (MONDO#0001071), DLG2-related\nReview for gene: DLG2 was set to AMBER\nAdded comment: PMID: 37860969 - 13 patients from 10 families with neurodevelopmental disorders, dysmorphic features and intragenic deletions including both exonic (minimal affect all transcripts) and UTR regions.\r\nMajority of variants were inherited, some de novo. But many NMD PTCs in gnomAD (some looking messy, in noncanonical transcript etc.) \nSources: Literature",
"entity_name": "DLG2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:31:52.344908+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1332",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CASP2 as ready",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:31:52.313037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1332",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: casp2 has been classified as Green List (High Evidence).",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:31:46.527336+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.16",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CASP2 as ready",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:31:46.504435+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.16",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: casp2 has been classified as Green List (High Evidence).",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:31:45.137897+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5601",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: DLG2 was added\ngene: DLG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: DLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DLG2 were set to PMID: 37860969\nPhenotypes for gene: DLG2 were set to Intellectual disability (MONDO#0001071), DLG2-related\nReview for gene: DLG2 was set to AMBER\nAdded comment: PMID: 37860969 - 13 patients from 10 families with neurodevelopmental disorders, dysmorphic features and intragenic deletions including both exonic (minimal affect all transcripts) and UTR regions.\r\nMajority of variants were inherited, some de novo. But many NMD PTCs in gnomAD (some looking messy, in noncanonical transcript etc.) \nSources: Literature",
"entity_name": "DLG2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:31:42.763944+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1332",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CASP2 as Green List (high evidence)",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:31:42.709556+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1332",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: casp2 has been classified as Green List (High Evidence).",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:31:42.660844+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.16",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CASP2 as Green List (high evidence)",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:31:42.630565+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.16",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: casp2 has been classified as Green List (High Evidence).",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:29:36.502608+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD81 as Green List (high evidence)",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:29:36.485469+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd81 has been classified as Green List (High Evidence).",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:29:15.570108+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1330",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: LRRC23 was added\ngene: LRRC23 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LRRC23 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRRC23 were set to 37804054\nPhenotypes for gene: LRRC23 were set to Non-syndromic male infertility due to sperm motility disorder MONDO:0017173\nReview for gene: LRRC23 was set to RED\nAdded comment: PMID 37804054: A homozygous nonsense mutation in LRRC23 (c.376C>T: p. Arg126X) in an infertile AZS patient whose parents were consanguineous. We verified the adversity of this novel mutation because of its ability to disrupt LRRC23 synthesis and impair RSs integrity. Furthermore, we demonstrated an interaction between LRRC23 and RSPH3 in vitro, indicating that LCCR23 is associated with RS in humans. Meanwhile, the LRRC23-mutant patient had a good prognosis following intracytoplasmic sperm injection. \nSources: Literature",
"entity_name": "LRRC23",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:28:16.743302+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5600",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CASP2 as ready",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:28:16.733987+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5600",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: casp2 has been classified as Green List (High Evidence).",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:28:06.701674+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5600",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CASP2 as Green List (high evidence)",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:28:06.686746+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5600",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: casp2 has been classified as Green List (High Evidence).",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:26:50.127030+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1330",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: MIEF1 was added\ngene: MIEF1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MIEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MIEF1 were set to 33632269\nPhenotypes for gene: MIEF1 were set to Optic atrophy 14 (MIM#620550)\nReview for gene: MIEF1 was set to AMBER\nAdded comment: PMID: 33632269\r\nInherited optic neuropathies cohort from france with nothing found in OPA1, OPA3 and WFS1 or mtDNA. 2 individuals (55 and 47yo) found to have missense variant in MIEF1, p.Arg146Trp has 35 hets 0 homs in gnomad, p.Tyr240Asn is absent. Both have non-syndromic late onset inherited optic neuropathies characterized by initial loss of peripheral visual fields.\r\n\r\nFunctional studies in HeLa cells- both missense localised to the mitochondria and formed oligomers similar to WT. MIEF1 normally regulates mitochondrial fission dynamics and causes an increase in mitochondrial fusion events, however both missense variants caused a significantly decreased mitochondrial fusion events. \nSources: Literature",
"entity_name": "MIEF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:26:16.855560+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.15",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "gene: CASP2 was added\ngene: CASP2 was added to Lissencephaly and Band Heterotopia. Sources: Literature\nMode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CASP2 were set to PMID: 37880421\nPhenotypes for gene: CASP2 were set to neurodevelopmental disorder MONDO:0700092, CASP2-related\nReview for gene: CASP2 was set to GREEN\ngene: CASP2 was marked as current diagnostic\nAdded comment: 7 patients from 5 families:\r\n- 4 families homozygous for PTC.\r\n- 1 family compound heterozygote for splice site + PTC. RNA studies indicate usage of 2 cryptic splice donor sites.\r\n\r\n5/5 have ID/dev delay\r\n1/5 seizures\r\n2/5 hypotonia\r\n3/5 Lissencephaly (pachygyria + cortical thickening) \nSources: Literature",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:26:16.143555+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5599",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CASP2 was added\ngene: CASP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CASP2 were set to 37880421\nPhenotypes for gene: CASP2 were set to neurodevelopmental disorder MONDO:0700092, CASP2-related\nPenetrance for gene: CASP2 were set to Complete\nReview for gene: CASP2 was set to GREEN\ngene: CASP2 was marked as current diagnostic\nAdded comment: 7 patients from 5 families\r\n4 families hom for PTCs, 1 family Chet for splice+PTC\r\nRNA studies done for the splice to indicate usage of 2 cryptic splice donor sites\r\n\r\n5/5 have ID/dev delay\r\n1/5 has seizures\r\n2/5 hypotonia\r\n3/5 lissencephaly (pachygyria and cortical thickening) \nSources: Literature",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:26:04.535378+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1330",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "gene: CASP2 was added\ngene: CASP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CASP2 were set to 37880421\nPhenotypes for gene: CASP2 were set to neurodevelopmental disorder MONDO:0700092, CASP2-related\nPenetrance for gene: CASP2 were set to Complete\nReview for gene: CASP2 was set to GREEN\ngene: CASP2 was marked as current diagnostic\nAdded comment: 7 patients from 5 families\r\n4 families hom for PTCs, 1 family Chet for splice+PTC\r\nRNA studies done for the splice to indicate usage of two cryptic splice donor sites\r\n\r\n5/5 have ID/dev delay\r\n1/5 has seizures\r\n2/5 hypotonia\r\n3/5 lissencephaly (pachygyria and cortical thickening) \nSources: Literature",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:25:17.420848+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.891",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: MIEF1 was added\ngene: MIEF1 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: MIEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MIEF1 were set to 33632269\nPhenotypes for gene: MIEF1 were set to Optic atrophy 14 (MIM#620550)\nReview for gene: MIEF1 was set to AMBER\nAdded comment: PMID: 33632269\r\nInherited optic neuropathies cohort from france with nothing found in OPA1, OPA3 and WFS1 or mtDNA. 2 individuals (55 and 47yo) found to have missense variants in MIEF1, p.Arg146Trp has 35 hets 0 homs in gnomad, p.Tyr240Asn is absent. Both have non-syndromic late onset inherited optic neuropathies characterized by initial loss of peripheral visual fields.\r\n\r\nFunctional studies in HeLa cells- both missense localised to the mitochondria and formed oligomers similar to WT. MIEF1 normally regulates mitochondrial fission dynamics and causes an increase in mitochondrial fusion events, however both missense variants caused a significantly decreased mitochondrial fusion events. \nSources: Literature",
"entity_name": "MIEF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:25:07.001522+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.297",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "edited their review of gene: ELP1: Changed rating: RED",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:24:21.449113+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.297",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "gene: ELP1 was added\ngene: ELP1 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ELP1 were set to PMID: 36864284\nPhenotypes for gene: ELP1 were set to neurodevelopmental disorder, MONDO:0700092, ELP1-related\nAdded comment: “A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopment disorder”.\r\n\r\nThe Elongator complex is suggested to play a role in NDDs, given that patient-derived mutations in its ELP2, ELP3, ELP4 and ELP6 subunits have been associated with these disorders. \r\n\r\nPathogenic variants in ELP1 have been previously found in familial dysautonomia and medulloblastoma, with no link to NDDs affecting primarily the central nervous system.\r\n\r\nClinical investigation included patient history and physical, neurological and MRI. A novel homozygous likely pathogenic ELP1 variant was identified by WGS (absent from gnomAD). Functional studies included in silico analysis of the mutated ELP1 in the context of the holo-complex, production and purification of the ELP1 harbouring the identified mutation and in vitro analyses.\r\n\r\nReport a novel missense mutation in the ELP1 identified in two siblings with ID and GDD (both less than 10 years old). The mutation is shown to perturb the ability of ELP123 to bind tRNAs and compromises the function of the Elongator in vitro and in human cells.\r\n\r\nBoth sibling are non-verbal and had severe ID/GDD. MRI revealed white matter lesions with enlarged perivascular spaces, suggestive of an inflammatory reaction associate with demyelination. WGS identified c.2444A>C; p.(Lys815Thr), homozygous in both siblings. Consanguineous family. Parents heterozygous and asymptomatic. Carry out significant functional studies. \r\n\r\nConclude that screening for ELP1 mutations “may be beneficial”. \nSources: Literature",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:23:46.042092+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.22",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: MIEF1 was added\ngene: MIEF1 was added to Optic Atrophy. Sources: Literature\nMode of inheritance for gene: MIEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MIEF1 were set to 33632269\nPhenotypes for gene: MIEF1 were set to Optic atrophy 14 (MIM#620550)\nReview for gene: MIEF1 was set to AMBER\nAdded comment: PMID: 33632269\r\nInherited optic neuropathies cohort from france with nothing found in OPA1, OPA3 and WFS1 or mtDNA. 2 individuals (55 and 47yo) found to have missense variant in MIEF1, p.Arg146Trp has 35 hets 0 homs in gnomad, p.Tyr240Asn is absent. Both have non-syndromic late onset inherited optic neuropathies characterized by initial loss of peripheral visual fields.\r\n\r\nFunctional studies in HeLa cells- both missense localised to the mitochondria and formed oligomers similar to WT. MIEF1 normally regulates mitochondrial fission dynamics and causes an increase in mitochondrial fusion events, however both missense variants caused a significantly decreased mitochondrial fusion events. \nSources: Literature",
"entity_name": "MIEF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:23:39.277382+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5598",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "gene: ELP1 was added\ngene: ELP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ELP1 were set to PMID: 36864284\nPhenotypes for gene: ELP1 were set to Neurodevelopmental disorder, MONDO:0700092, ELP1-related\nReview for gene: ELP1 was set to RED\nAdded comment: “A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopment disorder”.\r\n\r\nThe Elongator complex is suggested to play a role in NDDs, given that patient-derived mutations in its ELP2, ELP3, ELP4 and ELP6 subunits have been associated with these disorders. \r\n\r\nPathogenic variants in ELP1 have been previously found in familial dysautonomia and medulloblastoma, with no link to NDDs affecting primarily the central nervous system.\r\n\r\nClinical investigation included patient history and physical, neurological and MRI. A novel homozygous likely pathogenic ELP1 variant was identified by WGS (absent from gnomAD). Functional studies included in silico analysis of the mutated ELP1 in the context of the holo-complex, production and purification of the ELP1 harbouring the identified mutation and in vitro analyses.\r\n\r\nReport a novel missense mutation in the ELP1 identified in two siblings with ID and GDD (both less than 10 years old). The mutation is shown to perturb the ability of ELP123 to bind tRNAs and compromises the function of the Elongator in vitro and in human cells.\r\n\r\nBoth sibling are non-verbal and had severe ID/GDD. MRI revealed white matter lesions with enlarged perivascular spaces, suggestive of an inflammatory reaction associate with demyelination. WGS identified c.2444A>C; p.(Lys815Thr), homozygous in both siblings. Consanguineous family. Parents heterozygous and asymptomatic. Carry out significant functional studies. \r\n\r\nConclude that screening for ELP1 mutations “may be beneficial”. \nSources: Literature",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T10:19:09.340553+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1330",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35637269; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2023-11-02T09:55:28.816664+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1330",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: CD81: Rating: GREEN; Mode of pathogenicity: None; Publications: 35849269; Phenotypes: Immunodeficiency, common variable, 6, OMIM:613496; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2023-11-01T15:12:44.736268+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1330",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: MME was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "MME",
"entity_type": "gene"
},
{
"created": "2023-11-01T14:49:55.746141+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AXL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2023-11-01T14:49:49.144869+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AXL as Red List (low evidence)",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2023-11-01T14:49:49.131553+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: axl has been classified as Red List (Low Evidence).",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2023-11-01T14:49:41.182894+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AXL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2023-11-01T14:48:26.923352+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AXL as Red List (low evidence)",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2023-11-01T14:48:26.909177+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: axl has been classified as Red List (Low Evidence).",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2023-11-01T14:48:08.920262+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AXL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2023-11-01T14:46:10.825240+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AXL was added\ngene: AXL was added to Differences of Sex Development. Sources: Expert Review\nMode of inheritance for gene: AXL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AXL were set to 24476074\nPhenotypes for gene: AXL were set to Hypogonadotropic hypogonadism, MONDO:0018555, AXL-related\nReview for gene: AXL was set to RED\nAdded comment: Four variants reported in individuals with KS/IHH. One is non-canonical splice site variant (c.586-6 C>T) but authors demonstrate no abnormal splicing occurs. Remainder are missense. Segregation in one family only: inherited from phenotypically normal parent. Axl null mice demonstrated delay in first estrus and the interval between vaginal opening and first estrus \nSources: Expert Review",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2023-11-01T14:28:48.438476+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEMA3A as ready",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2023-11-01T14:28:48.423624+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema3a has been classified as Green List (High Evidence).",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2023-11-01T14:28:44.376255+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEMA3A as Green List (high evidence)",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2023-11-01T14:28:44.362507+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema3a has been classified as Green List (High Evidence).",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2023-11-01T14:28:15.179272+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEMA3A was added\ngene: SEMA3A was added to Differences of Sex Development. Sources: Expert Review\nMode of inheritance for gene: SEMA3A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: SEMA3A were set to 28075028; 33369061; 20301509; 21059704; 24124006; 22927827\nPhenotypes for gene: SEMA3A were set to Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897\nReview for gene: SEMA3A was set to GREEN\nAdded comment: Heterozygous variants associated with isolated GnRH deficiency with or without anosmia (Kallman syndrome like). More severe phenotype with biallelic SEMA3A variants including postnatal short stature and congenital heart defects in 3/3 published, unrelated individuals.\r\n\r\nPMID 33369061 Gileta et al 2021 - report x1 patient. Female proband was compound heterozygote for a nonsense variant and a multiexonic deletion of SEMA3A. Presents with postnatal short stature, congenital cardiac anomalies, dysmorphic features, hypogonadotrophic hypogonadism and anosmia.\r\n\r\nPMID 28075028 Baumann et al 2017 - report x1 patient. Homozygous LoF variants identified in a proband from a consanguineous Turkish family. Noted at birth to have a high-positioned scapulae, deformed ribs and a lateral clavicular hook. The patient also had upper/lower limb contractures and aberrant right subclavian artery. Mild facial dysmorphism, micropenis and hypogonadotrophic hypogonadism also noted in the first week of life. Postnatal short stature (length 50cm at term birth)\r\n\r\nPMID 24124006 Hofmann et al 2013 - first reported biallelic variants in a proband with postnatal short stature, skeletal anomalies of the thorax, congenital heart\r\ndefect and camptodactyly \nSources: Expert Review",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2023-11-01T13:56:11.970653+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCAF17 as ready",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2023-11-01T13:56:11.949833+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcaf17 has been classified as Green List (High Evidence).",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2023-11-01T13:56:07.828672+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DCAF17 as Green List (high evidence)",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2023-11-01T13:56:07.819879+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcaf17 has been classified as Green List (High Evidence).",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2023-11-01T13:55:38.657984+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCAF17 was added\ngene: DCAF17 was added to Differences of Sex Development. Sources: Expert Review\nMode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCAF17 were set to 19026396; 20507343; 35002959; 34877714; 34732557; 34590781\nPhenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, MIM#\t241080\nReview for gene: DCAF17 was set to GREEN\nAdded comment: Well established gene-disease association. Hypogonadism is a key feature. \nSources: Expert Review",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2023-11-01T13:50:34.339595+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLPP as ready",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2023-11-01T13:50:34.327362+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clpp has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2023-11-01T13:47:22.230997+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLPP as Amber List (moderate evidence)",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2023-11-01T13:47:22.218638+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clpp has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2023-11-01T13:46:52.222320+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLPP was added\ngene: CLPP was added to Differences of Sex Development. Sources: Expert Review\nMode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLPP were set to 23541340; 25956234; 26970254; 27087618; 27650058; 27650058; 27899912\nPhenotypes for gene: CLPP were set to Perrault syndrome 3, MIM# 614129\nReview for gene: CLPP was set to AMBER\nAdded comment: Multiple families with Perrault syndrome, HH is an inconsistent feature.\r\n\r\nPMID: 23541340, describes 3 consanguineous Pakistani families (PDF1, PKDF291 and DEM4395), all affected individuals had sensorineural hearing loss. Family PDF1: 3 affected sisters, 1/3 had delayed puberty, streak ovaries and hormone levels consistant with hypogonadotropic hypogonadism, 2/3 had incipient POF and 1/3 had white matter phenotype. All three had epilepsy, short stature, microcephaly (< 3 percentile), moderate learning difficulties and ataxia. \r\nFamily PKDF291: 4 affected females with primary amenorrhea and hypogonadotropic hypogonadism. 3/4 had rudimentary uterus and small ovaries, 1/4 had small uterus and normal sized ovaries. No learning disabilities, microcephaly, short stature, epilepsy or neurological deficiet in all affected females.\r\nFamily DEM4395: 1 affected male and 2 affected females. All females had normal periods but their hormone profiles were not investigated. Aside from hearing loss there were no other self reported medical problems.\r\n\r\nPMID: 25956234. Consanguineous Saudi family with 1 affected male and 1 affected female. Both patients have hearing loss, growth retardation and mental retardation, spastic diplegia and mild-severe white matter loss. No seizures were described in the patients. There is a third sibling (8 months) with the same variant; however, he did not show any of the phenotypes seen in his siblings but he is under regular checkups from a clinical team.\r\n\r\nPMID:26970254. Consanguineous family of Arabic descent. Proband with 4 unaffected siblings and parents. Proband has hearing loss, azoospermia, no neurological symptoms other than the foot drop (neurophysiology revealed a sensory-motor demyelinative axonal peripheral neuropathy of the lower limbs). Father has cerebellar ataxia (cause unknown).\r\n\r\nPMID: 27087618. Non-consanguineous Turkish family; however, parents are from the same village. 2 affected siblings (1 male, 1 female). Sister has secondary amenorrhea, hearing loss, no ovaries detected, hypogonadotropic hypogonadism, no neurological problems. Brother has hearing loss but no other problems.\r\n\r\nPMID: 27650058. Consanguineous Algerian family with 2 affected females. Both have hearing loss and secondary amenorrhea, but no other neurological symptoms.\r\n\r\nPMID: 27899912. 3 affected families, with 5 affected individuals (all males). All had congenital deafness, psychomotor retardation, white matter phenotype and short stature. Patients were not tested for infertility. \nSources: Expert Review",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2023-11-01T13:44:19.165143+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC141 as ready",
"entity_name": "CCDC141",
"entity_type": "gene"
},
{
"created": "2023-11-01T13:44:19.151855+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc141 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC141",
"entity_type": "gene"
},
{
"created": "2023-11-01T13:43:54.165511+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC141 as Amber List (moderate evidence)",
"entity_name": "CCDC141",
"entity_type": "gene"
},
{
"created": "2023-11-01T13:43:54.152603+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc141 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC141",
"entity_type": "gene"
},
{
"created": "2023-11-01T13:43:16.620956+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC141 was added\ngene: CCDC141 was added to Differences of Sex Development. Sources: Expert Review\nMode of inheritance for gene: CCDC141 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: CCDC141 were set to 251920460; 28324054; 32520725; 27014940\nPhenotypes for gene: CCDC141 were set to congenital hypogonadotropic hypogonadism, MONDO:0015770, CCDC141-related\nReview for gene: CCDC141 was set to AMBER\nAdded comment: PMID: 251920460 describes 2 affected siblings from a consanguineous family with anosmic HH, who had homozygous variant in FEZF1 (Amber gene on this panel) and also homozyous for variant in CCDC141.\r\n\r\nPMID: 28324054 describes the above case and also 3 new cases (all had normal sense of smell and HH). Family 2: compound het for CCDC141 and heterozygous for DMXL2 variant. Family 3: heterozygous for CCDC141 variant and heterozygous for variants in 3 other genes (NR5A2, FSHB - Green on HH panel, IGSF10). Family 4: affected patient was heterozygous for CCDC141 variant, which the father also carried but father was unaffected.\r\n\r\nPMID: 32520725 describes a large Chinese cohort with congenital HH looking at the contribution of CCDC141 to the disease. 12 probands had variants CCDC141 and 9 of these probands had variants in other HH-related genes (inluding PCSK1, ANOS1, PROKR2, AXL, SOX10, HS6ST1, PNPLA6 and FGFR1). The authors concluded that CCDC141 variants alone is not sufficient to cause HH.\r\n\r\nPMID: 27014940 talks about a ccdc141 knockdown mouse model reduces GnRH neuronal migration.\r\n\r\nOverall, insufficient evidence for gene-disease association; may be a modifier. \nSources: Expert Review",
"entity_name": "CCDC141",
"entity_type": "gene"
},
{
"created": "2023-10-31T12:47:20.954618+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GDF1 as ready",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2023-10-31T12:47:20.945542+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf1 has been classified as Green List (High Evidence).",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2023-10-31T12:47:18.537354+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GDF1 were changed from to Congenital heart defects, multiple types, 6 MIM#613854",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2023-10-31T12:46:53.120195+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GDF1 were set to ",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2023-10-31T12:46:20.711911+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GDF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2023-10-31T12:45:48.583145+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ELANE were set to ",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2023-10-31T12:45:21.498033+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ELANE was changed from to Other",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2023-10-31T12:44:51.995569+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ELANE: Added comment: The disease mechanism is unclear; however, considering current evidence it is unlikely that haploinsufficiency is a disease mechanism, and it is likely that the cause of neutropenia is not the lack of neutrophil elastase itself, but protease malfunction (PMID: 33968054)\r\n\r\nAccording to ClinGen, there is little evidence for haploinsufficiency. gnomAD pLI score is zero and there are NMD predicted variants in the population.\r\n\r\nEntire gene deletion is not described in the context of neutropenia, including deletion of 19p terminal (encompassing ELANE) (PMID: 33968054).\r\n\r\nMaturation arrest, the failure of the marrow myeloid progenitors to form mature neutrophils, is a consistent feature of ELANE associated congenital neutropenia. Knock-out of the mutant allele in hematopoietic stem cells derived from SCN patients restores neutrophils maturation (PMID: 3124897).; Changed mode of pathogenicity: Other; Changed publications: 33968054, 3124897",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2023-10-31T12:44:16.111030+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ELANE were set to 10581030; 11001877",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2023-10-31T12:42:54.515831+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ELANE was changed from to Other",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2023-10-31T12:42:27.695572+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ELANE: Added comment: The disease mechanism is unclear; however, considering current evidence it is unlikely that haploinsufficiency is a disease mechanism, and it is likely that the cause of neutropenia is not the lack of neutrophil elastase itself, but protease malfunction (PMID: 33968054)\r\n\r\nAccording to ClinGen, there is little evidence for haploinsufficiency. gnomAD pLI score is zero and there are NMD predicted variants in the population.\r\n\r\nEntire gene deletion is not described in the context of neutropenia, including deletion of 19p terminal (encompassing ELANE) (PMID: 33968054).\r\n\r\nMaturation arrest, the failure of the marrow myeloid progenitors to form mature neutrophils, is a consistent feature of ELANE associated congenital neutropenia. Knock-out of the mutant allele in hematopoietic stem cells derived from SCN patients restores neutrophils maturation (PMID: 3124897).; Changed mode of pathogenicity: Other; Changed publications: 10581030, 11001877, 33968054, 3124897",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2023-10-31T12:41:44.271084+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ELANE were set to 19036076",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2023-10-31T12:39:38.713277+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ELANE was changed from to Other",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2023-10-31T12:39:07.033932+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ELANE: Added comment: The disease mechanism is unclear; however, considering current evidence it is unlikely that haploinsufficiency is a disease mechanism, and it is likely that the cause of neutropenia is not the lack of neutrophil elastase itself, but protease malfunction (PMID: 33968054)\r\n\r\nAccording to ClinGen, there is little evidence for haploinsufficiency. gnomAD pLI score is zero and there are NMD predicted variants in the population.\r\n\r\nEntire gene deletion is not described in the context of neutropenia, including deletion of 19p terminal (encompassing ELANE) (PMID: 33968054).\r\n\r\nMaturation arrest, the failure of the marrow myeloid progenitors to form mature neutrophils, is a consistent feature of ELANE associated congenital neutropenia. Knock-out of the mutant allele in hematopoietic stem cells derived from SCN patients restores neutrophils maturation (PMID: 3124897).; Changed mode of pathogenicity: Other; Changed publications: 19036076, 3124897, 33968054",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2023-10-31T12:24:42.391941+11:00",
"panel_name": "Adult Cardiac SuperPanel",
"panel_id": 4059,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-10-31T11:25:03.066642+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.232",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: MAPT: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAPT",
"entity_type": "gene"
},
{
"created": "2023-10-30T21:47:40.726580+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ELANE was changed from to Other",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2023-10-30T16:15:22.246369+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.300",
"user_name": "Ting Chan",
"item_type": "entity",
"text": "edited their review of gene: GDF1: Changed phenotypes: Congenital heart defects, multiple types, 6 MIM#613854",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2023-10-30T16:14:06.695281+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.300",
"user_name": "Ting Chan",
"item_type": "entity",
"text": "edited their review of gene: GDF1: Changed publications: 33131162, 35351224, 32144877",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2023-10-30T16:13:44.359388+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.300",
"user_name": "Ting Chan",
"item_type": "entity",
"text": "reviewed gene: GDF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33131162, 35351224, 32144877; Phenotypes: 613854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2023-10-30T10:23:59.028757+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1327",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 33968054, 3124897; Phenotypes: Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700, Neutropaenia, cyclic, MIM# 162800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2023-10-28T10:57:10.933693+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AXIN1 were changed from Syndromic disease, (MONDO:0002254), AXIN1-related to Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-10-28T10:56:29.936428+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Intellectual disability is a feature.; to: Developmental delay is a feature.",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-10-28T10:56:15.248831+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AXIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-10-28T10:54:44.092129+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Mouse data only.; to: Caudal duplication: Mouse data only.",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-10-28T10:54:26.028516+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AXIN1: Added comment: PMID: 37582359 \r\n- four families (7 individuals) with three homozygous truncating variants. \r\n- all variant shown to result in reduced protein, though 1/3 would be NMD predicted\r\n- Probands had macrocephaly (4/6), GDD (3/7), hip dysplasia (5/6), cardiac anomalies eg. VSD/ASD (3/7), cranial hyperostosis and vertebral endplate sclerosis; Changed rating: GREEN; Changed publications: 37582359; Changed phenotypes: Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-10-28T10:53:24.842575+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AXIN1 were changed from Caudal duplication anomaly, MIM# 607864; Syndromic disease, (MONDO:0002254), AXIN1-related to Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-10-28T10:52:52.238779+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AXIN1 were changed from Syndromic disease, (MONDO:0002254), AXIN1-related to Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-10-28T10:52:09.784239+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AXIN1 were changed from Syndromic disease, (MONDO:0002254), AXIN1-related to Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-10-28T10:51:37.181850+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AXIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-10-26T20:08:15.453539+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX58 as ready",
"entity_name": "DDX58",
"entity_type": "gene"
},
{
"created": "2023-10-26T20:08:15.436653+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx58 has been classified as Green List (High Evidence).",
"entity_name": "DDX58",
"entity_type": "gene"
},
{
"created": "2023-10-26T19:26:32.787434+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDX58 were changed from Lupus Nephritis to Lupus Nephritis, MONDO:0005556, DDX58-related",
"entity_name": "DDX58",
"entity_type": "gene"
},
{
"created": "2023-10-26T15:23:40.336546+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HMBS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2023-10-26T15:23:17.372634+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HMBS: Added comment: Rare families with bi-allelic disease reported.; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2023-10-26T13:33:22.526539+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.21",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DDX58 as Green List (high evidence)",
"entity_name": "DDX58",
"entity_type": "gene"
},
{
"created": "2023-10-26T13:33:22.519584+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.21",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ddx58 has been classified as Green List (High Evidence).",
"entity_name": "DDX58",
"entity_type": "gene"
},
{
"created": "2023-10-26T13:33:00.887287+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.21",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DDX58 as Green List (high evidence)",
"entity_name": "DDX58",
"entity_type": "gene"
},
{
"created": "2023-10-26T13:33:00.867622+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.21",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ddx58 has been classified as Green List (High Evidence).",
"entity_name": "DDX58",
"entity_type": "gene"
},
{
"created": "2023-10-26T13:31:09.483058+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.20",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DDX58 was added\ngene: DDX58 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: DDX58 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DDX58 were set to PMID: 36261300\nPhenotypes for gene: DDX58 were set to Lupus Nephritis\nReview for gene: DDX58 was set to GREEN\ngene: DDX58 was marked as current diagnostic\nAdded comment: WES in cohort of lupus nephritis patients found a novel DDX58 pathogenic variant (R109C) in 5 unrelated families. The DDX58 R109C variant is a gain-of-function mutation, elevating type I IFN signaling due to reduced autoinhibition, which leads to RIG-I hyperactivation, increased RIG-I K63 ubiquitination, and MAVS aggregation. Transcriptome analysis revealed an increased IFN signature in patient monocytes. Initiation of JAK inhibitor therapy (baricitinib 2 mg/d) effectively suppressed the IFN signal in one patient. \nSources: Literature",
"entity_name": "DDX58",
"entity_type": "gene"
},
{
"created": "2023-10-26T12:33:39.177035+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINA1 as ready",
"entity_name": "SERPINA1",
"entity_type": "gene"
}
]
}