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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1863",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1861",
"results": [
{
"created": "2020-04-15T12:16:06.529529+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ncf2 has been classified as Red List (Low Evidence).",
"entity_name": "NCF2",
"entity_type": "gene"
},
{
"created": "2020-04-15T12:15:37.636190+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: NCF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease due to deficiency of NCF-2 MIM#233710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NCF2",
"entity_type": "gene"
},
{
"created": "2020-04-15T12:13:38.881105+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NCF1 as Red List (low evidence)",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2020-04-15T12:13:38.866821+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ncf1 has been classified as Red List (Low Evidence).",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2020-04-15T12:13:03.882365+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: NCF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease due to deficiency of NCF-1 MIM#233700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2020-04-15T12:10:48.057603+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.60",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "edited their review of gene: TIMM8A: Added comment: TIMM8A causes Mohr–Tranebjaerg syndrome (also called deafness-dystonia-optic neuronopathy [DDON] syndrome.\r\nOptic atrophy does not appear to be a major or consistent feature\r\n\r\nPMID: 31903733; Neighbors 2020: Patient reported did not show optic neuropathy or retinal involvement\r\nPMID: 30634948; Wang 2019: Reported 3 unrelated families, no signs of optic atrophy \r\nPMID: 22736418; Ha 2012: Only 1 of 3 family showed optic atrophy; Changed phenotypes: Mohr-Tranebjaerg syndrome (MIM#304700)",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2020-04-15T12:10:15.726185+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MSMO1 as Green List (high evidence)",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2020-04-15T12:10:15.715979+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: msmo1 has been classified as Green List (High Evidence).",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2020-04-15T12:10:11.713911+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.60",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: TIMM8A: Rating: AMBER; Mode of pathogenicity: None; Publications: 31903733, 30634948, 22736418; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2020-04-15T12:09:35.936921+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MSMO1 was added\ngene: MSMO1 was added to Cataract. Sources: Expert list\nMode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MSMO1 were set to 21285510; 24144731; 28673550\nPhenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834\nReview for gene: MSMO1 was set to GREEN\nAdded comment: At least 3 probands with biallelic variant and congenital cataract as a prominent feature of the condition. \nSources: Expert list",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2020-04-15T11:56:35.602634+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LRBA as Red List (low evidence)",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2020-04-15T11:56:35.589184+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lrba has been classified as Red List (Low Evidence).",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2020-04-15T11:55:31.027041+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: LRBA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency, common variable, 8, with autoimmunity MIM#614700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2020-04-15T11:50:36.511918+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LIG4 as Red List (low evidence)",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2020-04-15T11:50:36.498518+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lig4 has been classified as Red List (Low Evidence).",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2020-04-15T11:50:00.508235+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: LIG4 syndrome MIM#606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2020-04-15T11:40:16.989517+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.60",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: C19orf12 was added\ngene: C19orf12 was added to Optic Atrophy. Sources: Expert Review\nMode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: C19orf12 were set to PMID: 22584950; 21981780; 23857908\nPhenotypes for gene: C19orf12 were set to ?Spastic paraplegia 43, autosomal recessive\t61504; Neurodegeneration with brain iron accumulation 4 614298\nReview for gene: C19orf12 was set to GREEN\nAdded comment: PMID: 22584950 - reports three patients (two families). Two sibs from one family (chet missense with inframe deletion) did NOT have optic atrophy, the third patient did (chet frameshift with the same inframe deletion). Patients had NBIA.\r\n\r\nPMID: 21981780 - optic atrophy described as a \"common finding\".\r\n19 families reported, optic atrophy was a feature in all familial cases (4/4), and most simplex cases (12/15)\r\nPatients were reported with both bilallelic and monoallelic genotypes. Patients had NBIA.\r\n\r\nPMID: 23857908 - 1 family with optic atrophy and SPG43. Same variant reported in an NBIA family \nSources: Expert Review",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2020-04-15T11:38:54.040033+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.60",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "changed review comment from: Recurrent missense, R468C, variant associated with OA - reported in 3 families.\r\n\r\nPMID: 29181157; Colavito 2017; R468C reported in a patient with isolated OA\r\nPMID: 26539208; Charif 2015: R468C reported in a family with OA and mild ID\r\nPMID: 30252181; Magri 2018: Reported a patient with early-onset optic atrophy with spastic ataxia. Patient harboured de novo R468C and het frameshift in SPG7. Functional analysis of R468C in yeast showed abolished AFG3L2 function. \r\n\r\nPMID: 30389403; Mancini 2019: Mouse model harbouring a different missense results in adult-onset ataxia and no vision loss; to: Recurrent missense, R468C, variant associated with OA - reported in 3 families.\r\n\r\nPMID: 29181157; Colavito 2017; R468C reported in a patient with isolated OA\r\nPMID: 26539208; Charif 2015: R468C reported in a family with OA and mild ID\r\nPMID: 30252181; Magri 2018: Reported a patient with early-onset optic atrophy with spastic ataxia. Patient harboured de novo R468C and het frameshift in SPG7. Functional analysis of R468C in yeast showed abolished AFG3L2 function. \r\n\r\nPMID: 30389403; Mancini 2019: Mouse model harbouring a different missense results in adult-onset ataxia and no vision loss",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-04-15T11:36:45.845993+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.60",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "edited their review of gene: AFG3L2: Changed publications: 29181157, 26539208, 30252181, 30389403",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-04-15T11:36:10.918610+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.60",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29181157, 26539208, 30252181; Phenotypes: Spastic ataxia 5, autosomal recessive (MIM#614487), Spinocerebellar ataxia 28 (MIM#610246); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-04-15T11:19:03.791438+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.60",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30250212, 28965846; Phenotypes: Auditory neuropathy and optic atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-04-15T11:03:38.379867+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.60",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "changed review comment from: PMID: 29036646 - 8 patients reported with both missense and PTCs. No indication in any patient of an eye-related phenotype; to: PMID: 29036646 - 8 patients reported with both missense and PTCs. No indication in any patient of an eye-related phenotype\r\n\r\nLooked for other papers/databases, no indication of this gene causing an eye phenotype. Some papers discuss developmental biology (PMID: 19797217) in mice, but no patients as of yet reported.",
"entity_name": "PBX1",
"entity_type": "gene"
},
{
"created": "2020-04-15T11:02:23.752660+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.60",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: PBX1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29036646; Phenotypes: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PBX1",
"entity_type": "gene"
},
{
"created": "2020-04-15T10:52:51.411186+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.60",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SLC52A2 was added\ngene: SLC52A2 was added to Optic Atrophy. Sources: Expert Review\nMode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC52A2 were set to PMID: 22864630; 29961509; 30377535; 29287867\nPhenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2\nReview for gene: SLC52A2 was set to GREEN\nAdded comment: PMID: 22864630 - 1 child with optic atrophy. She has biallelic chet missense, functional studies confirm a loss of function consequence.\r\n\r\nPMID: 23243084 - reported by PanelApp UK but no patient observed with optic atrophy\r\n\r\nPMID: 29961509 - 1 family (two siblings) with optic atrophy and a homozygous missense.\r\n\r\nPMID: 30377535 - Described optic atrophy as a \"typical\" common feature of riboflavin transporter deficiency\r\n\r\nPMID: 29287867 - A Iranian family (3 sibs) with a homozygous missense and optic atrophy \nSources: Expert Review",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2020-04-15T10:12:52.313200+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.60",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: MFF was added\ngene: MFF was added to Optic Atrophy. Sources: Expert Review\nMode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MFF were set to PMID: 26783368; 22499341; 30581454\nPhenotypes for gene: MFF were set to Encephalopathy due to defective mitochondrial and peroxisomal fission 2\nPenetrance for gene: MFF were set to unknown\nReview for gene: MFF was set to GREEN\nAdded comment: PMID: 26783368 - 2 fams with bilallelic PTCs with optic atrophy\r\n\r\nPMID: 22499341 - 1 fam with bilallelic PTCs with optic atrophy\r\n\r\nPMID: 30581454 - 1 patient with bilallelic PTCs with optic atrophy \nSources: Expert Review",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2020-04-15T10:08:00.554103+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.60",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: None; Publications: 28413018, 28007986; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (MIM#617527); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2020-04-15T09:52:47.154014+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.60",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: RTN4IP1 was added\ngene: RTN4IP1 was added to Optic Atrophy. Sources: Expert Review\nMode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RTN4IP1 were set to PMID: 26593267; 31077085\nPhenotypes for gene: RTN4IP1 were set to Optic atrophy 10 with or without ataxia, mental retardation, and seizures\nPenetrance for gene: RTN4IP1 were set to unknown\nReview for gene: RTN4IP1 was set to GREEN\nAdded comment: PMID: 26593267 - 4 families with hom missense or chet w/ PTCs and optic atrophy\r\nPMID: 31077085 - 1 fam (2 chet sibs) w/ missense and PTC and optic atrophy \nSources: Expert Review",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2020-04-15T09:30:53.306973+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC18A2 as ready",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2020-04-15T09:30:53.293416+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc18a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2020-04-15T09:30:42.928170+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC18A2 as Green List (high evidence)",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2020-04-15T09:30:42.919446+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc18a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2020-04-15T09:30:24.015482+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC18A2 was added\ngene: SLC18A2 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC18A2 were set to 23363473; 31240161; 26497564\nPhenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM#\t618049\nReview for gene: SLC18A2 was set to GREEN\nAdded comment: At least three unrelated families reported, potential treatment implications \nSources: Expert Review",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2020-04-15T09:29:02.426845+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC18A2 as ready",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2020-04-15T09:29:02.413180+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc18a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2020-04-15T09:28:55.994324+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC18A2 as Green List (high evidence)",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2020-04-15T09:28:55.983510+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc18a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2020-04-15T09:28:22.206308+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC18A2 was added\ngene: SLC18A2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC18A2 were set to 23363473; 31240161; 26497564\nPhenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM#\t618049\nReview for gene: SLC18A2 was set to GREEN\nAdded comment: At least three unrelated families reported, potential treatment implications. \nSources: Expert Review",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2020-04-14T16:04:20.709043+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU4ATAC as ready",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2020-04-14T16:04:20.701956+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Note gene is not protein coding.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2020-04-14T16:04:20.654573+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu4atac has been classified as Green List (High Evidence).",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2020-04-14T16:04:03.327098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from to Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651)",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2020-04-14T16:03:45.547388+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU4ATAC were set to ",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2020-04-14T16:02:20.052027+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNU4ATAC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2020-04-14T16:01:47.805346+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC24A1 as ready",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2020-04-14T16:01:47.801274+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Agree, I can only find association with retinal disease, not optic atrophy.",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2020-04-14T16:01:47.771660+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc24a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2020-04-14T16:01:13.861454+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC24A1 were changed from to Night blindness, congenital stationary (complete), 1D, autosomal recessive; 613830",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2020-04-14T16:00:46.201737+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC24A1 were set to ",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2020-04-14T16:00:23.681988+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC24A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2020-04-14T16:00:01.535201+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC24A1 as Red List (low evidence)",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2020-04-14T16:00:01.520122+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc24a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2020-04-14T15:20:07.099561+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2275",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23794361, 26522830, 30455926; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710), Roifman syndrome (MIM# 616651); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2020-04-14T14:22:21.769196+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.56",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: SLC24A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26822852, 20850105; Phenotypes: Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:34:36.470454+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT172 as ready",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:34:36.464261+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Established ciliopathy gene.",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:34:36.418770+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift172 has been classified as Green List (High Evidence).",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:34:22.984500+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT172 were changed from to Retinitis pigmentosa 71 616394; Short-rib thoracic dysplasia 10 with or without polydactyly - 615630; Bardet-Biedl syndrome",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:33:55.119640+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT172 were set to ",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:33:33.713005+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:32:14.706230+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KMT2E: Rating: GREEN; Mode of pathogenicity: None; Publications: 31079897; Phenotypes: O'Donnell-Luria-Rodan syndrome, MIM# 618512, Intellectual disability, Autism, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:31:09.426404+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2E were changed from Intellectual disability; Autism; Seizures to O'Donnell-Luria-Rodan syndrome, MIM# 618512; Intellectual disability; Autism; Seizures",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:30:30.420802+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KMT2E: Added comment: Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. The four individuals with missense variants presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E postulated to explain this divergence in phenotype.; Changed phenotypes: O'Donnell-Luria-Rodan syndrome, MIM# 618512, Intellectual disability, Autism, Seizures",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:28:59.115480+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KMT2E: Rating: GREEN; Mode of pathogenicity: None; Publications: 31079897; Phenotypes: O'Donnell-Luria-Rodan syndrome, MIM# 618512; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:25:16.484014+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2E as ready",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:25:16.474795+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2e has been classified as Green List (High Evidence).",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:25:07.529828+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KMT2E were set to ",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:24:47.130278+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2E were changed from to O'Donnell-Luria-Rodan syndrome, MIM# 618512",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:24:29.525400+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KMT2E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:23:17.561419+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MACF1 as ready",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:23:17.546689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: macf1 has been classified as Green List (High Evidence).",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:22:46.134482+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP1B as ready",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:22:46.125283+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map1b has been classified as Green List (High Evidence).",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:22:37.351567+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP1B were changed from to Intellectual disability; seizures; PVNH; dysmorphic features",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:22:22.547432+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAP1B were set to ",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:22:08.600812+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:21:25.058862+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP3K20 as ready",
"entity_name": "MAP3K20",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:21:25.045474+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map3k20 has been classified as Green List (High Evidence).",
"entity_name": "MAP3K20",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:20:38.937810+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP3K7 as ready",
"entity_name": "MAP3K7",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:20:38.921689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map3k7 has been classified as Green List (High Evidence).",
"entity_name": "MAP3K7",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:20:30.808236+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP3K7 were changed from to Cardiospondylocarpofacial syndrome 157800 AD; Frontometaphyseal dysplasia 2 617137 AD",
"entity_name": "MAP3K7",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:20:09.249333+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAP3K7 were set to ",
"entity_name": "MAP3K7",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:19:54.581147+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: MAP3K7 was changed from to Other",
"entity_name": "MAP3K7",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:19:40.237107+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAP3K7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP3K7",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:18:44.942885+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MARS2 as ready",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:18:44.933470+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mars2 has been classified as Green List (High Evidence).",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:18:36.026489+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MARS2 were changed from to Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:17:53.283947+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MARS2 were set to ",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:17:38.762537+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:17:00.689848+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MARS2: Changed rating: GREEN; Changed publications: 25754315, 16672289",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:16:37.537909+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 1 family with 2 sibs with combined oxidative phosphorylation deficiency-25 (with ID) with compound heterozygous mutations in the MARS2 gene. Patient fibroblasts showed decreased activities of mitochondrial complexes I and IV, consistent with a mitochondrial translation defect. Immunoblot analysis showed reduced MARS2 protein levels as well as reduced levels of selected subunits of complexes I and IV.; to: 1 family with 2 sibs with combined oxidative phosphorylation deficiency-25 (with ID) with compound heterozygous mutations in the MARS2 gene. Patient fibroblasts showed decreased activities of mitochondrial complexes I and IV, consistent with a mitochondrial translation defect. Immunoblot analysis showed reduced MARS2 protein levels as well as reduced levels of selected subunits of complexes I and IV. Spastic ataxia association: note complex chromosomal rearrangements rather than SNVs reported in group of 54 French Canadians.",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:14:12.893401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MECOM as ready",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:14:12.884638+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mecom has been classified as Green List (High Evidence).",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:14:05.421459+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MECOM were changed from to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:13:44.743051+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MECOM were set to ",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:13:15.969979+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MECOM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:12:25.919709+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED17 as ready",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:12:25.905465+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med17 has been classified as Green List (High Evidence).",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:12:17.636135+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED17 were changed from to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:11:57.837196+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MED17 were set to ",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:11:37.637692+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MED17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED17",
"entity_type": "gene"
}
]
}