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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1185",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1183",
"results": [
{
"created": "2021-10-17T17:10:06.472902+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ1OT1 as ready",
"entity_name": "KCNQ1OT1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:10:06.463606+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq1ot1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNQ1OT1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:10:03.823183+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ1OT1 were changed from Beckwith-Wiedemann syndrome OMIM:130650 to Beckwith-Wiedemann syndrome OMIM:130650; Russell-Silver Syndrome",
"entity_name": "KCNQ1OT1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:09:50.082607+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNQ1OT1 were set to 22205991; 15372379; 10220444; http://igc.otago.ac.nz/home.html; 23511928; 30794780",
"entity_name": "KCNQ1OT1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:09:09.115070+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNQ1OT1 as Amber List (moderate evidence)",
"entity_name": "KCNQ1OT1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:09:09.103728+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq1ot1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNQ1OT1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:03:56.393909+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: H19 as ready",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:03:56.382589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h19 has been classified as Red List (Low Evidence).",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:03:46.317832+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: H19 was added\ngene: H19 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: H19 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: H19 were set to 20007505; 15743916; 23118352; 21863054; 21571108; 18245780; 24916376; 25943194\nPhenotypes for gene: H19 were set to Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation); Affected tissue: all; Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome\nReview for gene: H19 was set to RED\nAdded comment: Methylation changes rather than sequence variation are associated with BWS/RSS. \nSources: Expert Review",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2021-10-17T16:57:30.118739+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: H19 as ready",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2021-10-17T16:57:30.109036+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h19 has been classified as Red List (Low Evidence).",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2021-10-17T16:57:26.075372+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: H19 as Red List (low evidence)",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2021-10-17T16:57:26.063687+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h19 has been classified as Red List (Low Evidence).",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2021-10-17T16:57:15.966713+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: H19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2021-10-17T16:56:44.530230+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: H19 as ready",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2021-10-17T16:56:44.519922+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h19 has been classified as Red List (Low Evidence).",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2021-10-17T16:56:35.842143+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: H19 as Red List (low evidence)",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2021-10-17T16:56:35.831857+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h19 has been classified as Red List (Low Evidence).",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2021-10-17T16:56:25.938176+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: H19: Rating: RED; Mode of pathogenicity: None; Publications: 20007505, 15743916, 23118352, 21863054, 21571108, 18245780, 24916376, 25943194; Phenotypes: Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation), Affected tissue: all, Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2021-10-17T16:53:28.873893+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAS as ready",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2021-10-17T16:53:28.864705+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnas has been classified as Green List (High Evidence).",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2021-10-17T16:53:23.698891+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAS were changed from Affected tissue: kidney, bone, brain; pseudopseudohypoparathyroidism; Phenotype resulting from under expression: Pseudohypoparathyroidism Type 1a to Affected tissue: kidney, bone, brain; pseudopseudohypoparathyroidism; Phenotype resulting from under expression: Pseudohypoparathyroidism Type 1a, MIM# 103580; Albright hereditary osteodystrophy",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2021-10-17T16:52:33.574346+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAS were set to 10980525; 11406605; 12024005; 15800843; 15181091; 9506752; 12024004; 15592469; 15592469; 11788646; 1944469; 2109828; 30794780",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2021-10-17T16:52:21.718702+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAS were set to 10980525; [11406605; 12024005; 15800843]; 15181091; 9506752; 12024004; http://igc.otago.ac.nz/home.html; 15592469; [15592469; 11788646; 1944469; PMID: 2109828; 30794780",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2021-10-17T16:51:42.284123+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GNAS: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2021-10-17T16:50:46.630200+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 15331575; Phenotypes: Pseudohypoparathyroidism Ia, MIM# 103580, Albright hereditary osteodystrophy, Pseudohypoparathyroidism Ib, MIM# 603233; Mode of inheritance: None",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2021-10-17T09:56:12.838857+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GBF1 were changed from Axonal Neuropathy to Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483; Axonal Neuropathy",
"entity_name": "GBF1",
"entity_type": "gene"
},
{
"created": "2021-10-17T09:55:50.458679+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GBF1",
"entity_type": "gene"
},
{
"created": "2021-10-16T13:04:29.071805+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM218 were changed from Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele to Joubert syndrome 39, MIM#619562; retinal dystrophy; polycystic kidneys; occipital encephalocele",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2021-10-16T13:04:16.935128+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM218: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 39, MIM#619562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2021-10-16T13:03:58.545147+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM218 were changed from Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele to Joubert syndrome 39, MIM#619562; retinal dystrophy; polycystic kidneys; occipital encephalocele",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2021-10-16T13:03:40.993424+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM218: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 39, MIM#619562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2021-10-16T13:03:22.423901+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM218 were changed from Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele to Joubert syndrome 39, MIM#619562; retinal dystrophy; polycystic kidneys; occipital encephalocele",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2021-10-16T13:02:38.851820+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM218: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 39, MIM#619562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2021-10-16T11:46:43.659316+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.19",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "changed review comment from: MAGEL2 is a single-exon gene.\r\nFrameshift mutations may not cause nonsense-mediated decay, but instead a variety of truncated or elongated protein products.\r\nThe pathogenicity of haploinsufficiency of the paternal allele is uncertain (ClinGen review 2018). A dominant-negative effect has been suggested. Haploinsufficiency may play a role. \nSources: Literature; to: Multiple reports.\r\n\r\nMAGEL2 is a single-exon gene.\r\nFrameshift mutations may not cause nonsense-mediated decay, but instead a variety of truncated or elongated protein products.\r\nThe pathogenicity of haploinsufficiency of the paternal allele is uncertain (ClinGen review 2018). A dominant-negative effect has been suggested. Haploinsufficiency may play a role. \r\nSources: Literature",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2021-10-15T20:02:20.527101+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OOEP as ready",
"entity_name": "OOEP",
"entity_type": "gene"
},
{
"created": "2021-10-15T20:02:20.516524+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ooep has been classified as Red List (Low Evidence).",
"entity_name": "OOEP",
"entity_type": "gene"
},
{
"created": "2021-10-15T20:02:09.720577+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OOEP was added\ngene: OOEP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: OOEP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OOEP were set to 29574422\nPhenotypes for gene: OOEP were set to Multi locus imprinting disturbance in offspring\nReview for gene: OOEP was set to RED\nAdded comment: Single report of biallelic variants in this gene in a mother of a child with Multi locus imprinting disturbance (MLID) and a transient neonatal diabetes mellitus phenotype. \r\n\r\nThis gene encodes part of the subcortical maternal complex (SCMC). Other genes in this group act as 'maternal effect' genes and are associated with early embryonic arrest, recurrent hydatiform mole and MLID in offspring.\r\n\r\nAs is the case for other genes encoding components of the SCMC, the pathogenicity of variants can be difficult to establish as reproductive outcomes are not recorded in genomic databases and variants may be listed in population databases as they are not classed as pathogenic in males or women with no reproductive history.\r\n\r\nFunctional studies of genes encoding components of the SCMC are limited as their expression is restricted to the oocyte and early embryo. \nSources: Literature",
"entity_name": "OOEP",
"entity_type": "gene"
},
{
"created": "2021-10-15T20:00:12.566389+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OOEP as ready",
"entity_name": "OOEP",
"entity_type": "gene"
},
{
"created": "2021-10-15T20:00:12.555699+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ooep has been classified as Red List (Low Evidence).",
"entity_name": "OOEP",
"entity_type": "gene"
},
{
"created": "2021-10-15T20:00:01.627004+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OOEP as Red List (low evidence)",
"entity_name": "OOEP",
"entity_type": "gene"
},
{
"created": "2021-10-15T20:00:01.614528+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ooep has been classified as Red List (Low Evidence).",
"entity_name": "OOEP",
"entity_type": "gene"
},
{
"created": "2021-10-15T19:59:50.839286+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OOEP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "OOEP",
"entity_type": "gene"
},
{
"created": "2021-10-15T19:58:46.098967+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF445 as ready",
"entity_name": "ZNF445",
"entity_type": "gene"
},
{
"created": "2021-10-15T19:58:46.089059+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf445 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF445",
"entity_type": "gene"
},
{
"created": "2021-10-15T19:58:32.456321+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF445 was added\ngene: ZNF445 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZNF445 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF445 were set to 34039421; 30602440; 30846001\nPhenotypes for gene: ZNF445 were set to Temple syndrome; Multi locus imprinting disturbance (MLID)\nReview for gene: ZNF445 was set to RED\nAdded comment: Single report (Kagami 2021) of a child with Temple syndrome and MLID found to have a novel homozygous truncating variant in ZNF445.\r\n\r\nZNF445 has been shown to play a critical role in the maintenance of postfertilisation methylation imprints (Takahashi 2019). Mechanism and parent of origin effects remain uncertain. \nSources: Literature",
"entity_name": "ZNF445",
"entity_type": "gene"
},
{
"created": "2021-10-15T19:55:52.077108+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF445 as ready",
"entity_name": "ZNF445",
"entity_type": "gene"
},
{
"created": "2021-10-15T19:55:52.064891+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf445 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF445",
"entity_type": "gene"
},
{
"created": "2021-10-15T19:55:34.211821+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF445 as Red List (low evidence)",
"entity_name": "ZNF445",
"entity_type": "gene"
},
{
"created": "2021-10-15T19:55:34.199196+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf445 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF445",
"entity_type": "gene"
},
{
"created": "2021-10-15T19:55:23.897146+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZNF445: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ZNF445",
"entity_type": "gene"
},
{
"created": "2021-10-15T19:52:42.291803+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TLE6 as ready",
"entity_name": "TLE6",
"entity_type": "gene"
},
{
"created": "2021-10-15T19:52:42.280701+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tle6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TLE6",
"entity_type": "gene"
},
{
"created": "2021-10-15T19:52:31.743395+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TLE6 as Amber List (moderate evidence)",
"entity_name": "TLE6",
"entity_type": "gene"
},
{
"created": "2021-10-15T19:52:31.725997+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tle6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TLE6",
"entity_type": "gene"
},
{
"created": "2021-10-15T19:51:46.901142+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NLRP7 were set to 19246479; 28916717; 31201414; 16462743; 29574422",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2021-10-15T19:50:03.212192+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KHDC3L as ready",
"entity_name": "KHDC3L",
"entity_type": "gene"
},
{
"created": "2021-10-15T19:50:03.198198+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: khdc3l has been classified as Green List (High Evidence).",
"entity_name": "KHDC3L",
"entity_type": "gene"
},
{
"created": "2021-10-15T19:50:01.169162+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KHDC3L were changed from Hydatiform mold recurrent 2 MIM#614293 to Hydatiform mole recurrent 2 MIM#614293",
"entity_name": "KHDC3L",
"entity_type": "gene"
},
{
"created": "2021-10-15T19:49:33.833723+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KHDC3L as Green List (high evidence)",
"entity_name": "KHDC3L",
"entity_type": "gene"
},
{
"created": "2021-10-15T19:49:33.822253+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: khdc3l has been classified as Green List (High Evidence).",
"entity_name": "KHDC3L",
"entity_type": "gene"
},
{
"created": "2021-10-15T17:51:21.783549+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.13",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "changed review comment from: Proposed classification: Amber, pending further evidence. \r\n\r\nThe KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5 is located within KCNQ1 intron 10.\r\n\r\nIC2 corresponds to the promoter of the long noncoding RNA KCNQ1OT1 and is methylated and inactive on the maternal chromosome. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the Beckwith-Wiedemann Syndrome (BWS) patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C (PMID 30635621).\r\n\r\nPathogenic variants in KCNQ1 are associated with long-QT syndrome (LQTS) and can be inherited on the paternal or maternal allele. \r\n\r\nLoss of methylation (LOM) of IC2 has been reported in a small number of individuals with KCNQ1 germline variants which additionally cause LQTS. Valente et al (PMID 30635621) reported three individuals with LQTS, features of BWS and LOM at IC2 and maternally inherited KCNQ1 variants, two of which were demonstrated to affect KCNQ1 transcription upstream of IC2. Essinger et al (PMID 32393365) analysed KCNQ1 in 52 individuals with LOM at IC2 and identified one individual with a splice site variant causing premature transcription termination. \r\n\r\nMicrodeletions of IC2 variably involving KCNQ1, CDKN1C and KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. LoF in CDKN1C is a known cause of BWS. \r\n\r\nBeygo et al (PMID 30778172) demonstrated that disruption of KCNQ1 prevents methylation of IC2 supporting the hypothesis that transcription of KCNQ1 is required for establishing the maternal methylation imprint at IC2. \nSources: Literature; to: Proposed classification: Amber, pending further evidence. \r\n\r\nThe KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5 is located within KCNQ1 intron 10.\r\n\r\nIC2 corresponds to the promoter of the long noncoding RNA KCNQ1OT1 and is methylated and inactive on the maternal chromosome. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the Beckwith-Wiedemann Syndrome (BWS) patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C (PMID 30635621).\r\n\r\nPathogenic variants in KCNQ1 are associated with long-QT syndrome (LQTS) and can be inherited on the paternal or maternal allele. \r\n\r\nLoss of methylation (LOM) of IC2 has been reported in a small number of individuals with KCNQ1 germline variants which additionally cause LQTS. Valente et al (PMID 30635621) reported three individuals with LQTS, features of BWS and LOM at IC2 and maternally inherited KCNQ1 variants, two of which were demonstrated to affect KCNQ1 transcription upstream of IC2. Essinger et al (PMID 32393365) analysed KCNQ1 in 52 individuals with LOM at IC2 and identified one individual with a splice site variant causing premature transcription termination. \r\n\r\nMicrodeletions of IC2 variably involving KCNQ1, CDKN1C and KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. Maternally inherited LoF variants in CDKN1C are a known cause of BWS. \r\n\r\nBeygo et al (PMID 30778172) demonstrated that disruption of KCNQ1 prevents methylation of IC2 supporting the hypothesis that transcription of KCNQ1 is required for establishing the maternal methylation imprint at IC2. \r\nSources: Literature",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2021-10-15T17:46:38.249336+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.13",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "changed review comment from: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype. \r\n\r\nKCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. IC2 is located within KCNQ1 intron 10. KCNQ1OT1 is maternally imprinted and paternally expressed. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the BWS patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C (PMID 30635621).\r\n\r\nSingle nucleotide variants within KCNQ1OT1 have not been definitively associated with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350). \r\n\r\nEggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation. \r\n\r\nMicrodeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LoF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172). ; to: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype. \r\n\r\nKCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. IC2 is located within KCNQ1 intron 10. KCNQ1OT1 is maternally imprinted and paternally expressed. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the BWS patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C (PMID 30635621). Expression is increased in BWS due to IC2 epimutations or paternal UPD.\r\n\r\nSingle nucleotide variants within KCNQ1OT1 have not been definitively associated with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350). \r\n\r\nEggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation. \r\n\r\nMicrodeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LoF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172). ",
"entity_name": "KCNQ1OT1",
"entity_type": "gene"
},
{
"created": "2021-10-15T17:10:25.782000+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.13",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "changed review comment from: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype. \r\n\r\nKCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. IC2 is located within KCNQ1 intron 10. KCNQ1OT1 is maternally imprinted and paternally expressed. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the BWS patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C.\r\n\r\nSingle nucleotide variants within KCNQ1OT1 have not been definitively associated with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350). \r\n\r\nEggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation. \r\n\r\nMicrodeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LoF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172). ; to: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype. \r\n\r\nKCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. IC2 is located within KCNQ1 intron 10. KCNQ1OT1 is maternally imprinted and paternally expressed. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the BWS patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C (PMID 30635621).\r\n\r\nSingle nucleotide variants within KCNQ1OT1 have not been definitively associated with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350). \r\n\r\nEggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation. \r\n\r\nMicrodeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LoF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172). ",
"entity_name": "KCNQ1OT1",
"entity_type": "gene"
},
{
"created": "2021-10-15T17:09:26.903591+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.13",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "changed review comment from: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype. \r\n\r\nKCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. IC2 is located within KCNQ1 intron 10. KCNQ1OT1 is maternally imprinted and paternally expressed. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the BWS patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C.\r\n\r\nSingle nucleotide variants within KCNQ1OT1 have not been definitively association with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350). \r\n\r\nEggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation. \r\n\r\nMicrodeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LoF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172). ; to: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype. \r\n\r\nKCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. IC2 is located within KCNQ1 intron 10. KCNQ1OT1 is maternally imprinted and paternally expressed. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the BWS patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C.\r\n\r\nSingle nucleotide variants within KCNQ1OT1 have not been definitively associated with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350). \r\n\r\nEggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation. \r\n\r\nMicrodeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LoF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172). ",
"entity_name": "KCNQ1OT1",
"entity_type": "gene"
},
{
"created": "2021-10-15T17:08:15.106904+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.13",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "changed review comment from: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype. \r\n\r\nKCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. KCNQ1OT1 is maternally imprinted and paternally expressed. \r\n\r\nSingle nucleotide variants within KCNQ1OT1 have not been definitively association with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350). \r\n\r\nEggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation. \r\n\r\nMicrodeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LoF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172). \r\n\r\nGenomic analysis of KCNQ1OT1 was not recommended as part of the diagnostic algorithm for suspected BWS in a 2018 international consensus review (PMID 29377879).; to: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype. \r\n\r\nKCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. IC2 is located within KCNQ1 intron 10. KCNQ1OT1 is maternally imprinted and paternally expressed. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the BWS patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C.\r\n\r\nSingle nucleotide variants within KCNQ1OT1 have not been definitively association with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350). \r\n\r\nEggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation. \r\n\r\nMicrodeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LoF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172). ",
"entity_name": "KCNQ1OT1",
"entity_type": "gene"
},
{
"created": "2021-10-15T17:05:43.951329+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.13",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "gene: KCNQ1 was added\ngene: KCNQ1 was added to Imprinting disorders. Sources: Literature\nMode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: KCNQ1 were set to PMID 30635621; 32393365; 30778172\nPhenotypes for gene: KCNQ1 were set to Beckwith-Wiedemann Syndrome\nPenetrance for gene: KCNQ1 were set to unknown\nReview for gene: KCNQ1 was set to AMBER\nAdded comment: Proposed classification: Amber, pending further evidence. \r\n\r\nThe KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5 is located within KCNQ1 intron 10.\r\n\r\nIC2 corresponds to the promoter of the long noncoding RNA KCNQ1OT1 and is methylated and inactive on the maternal chromosome. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the Beckwith-Wiedemann Syndrome (BWS) patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C (PMID 30635621).\r\n\r\nPathogenic variants in KCNQ1 are associated with long-QT syndrome (LQTS) and can be inherited on the paternal or maternal allele. \r\n\r\nLoss of methylation (LOM) of IC2 has been reported in a small number of individuals with KCNQ1 germline variants which additionally cause LQTS. Valente et al (PMID 30635621) reported three individuals with LQTS, features of BWS and LOM at IC2 and maternally inherited KCNQ1 variants, two of which were demonstrated to affect KCNQ1 transcription upstream of IC2. Essinger et al (PMID 32393365) analysed KCNQ1 in 52 individuals with LOM at IC2 and identified one individual with a splice site variant causing premature transcription termination. \r\n\r\nMicrodeletions of IC2 variably involving KCNQ1, CDKN1C and KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. LoF in CDKN1C is a known cause of BWS. \r\n\r\nBeygo et al (PMID 30778172) demonstrated that disruption of KCNQ1 prevents methylation of IC2 supporting the hypothesis that transcription of KCNQ1 is required for establishing the maternal methylation imprint at IC2. \nSources: Literature",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2021-10-15T16:26:03.676309+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.13",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "changed review comment from: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype. \r\n\r\nKCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. KCNQ1OT1 is maternally imprinted and paternally expressed. \r\n\r\nSingle nucleotide variants within KCNQ1OT1 have not been definitively association with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350). \r\n\r\nEggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation. \r\n\r\nMicrodeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LOF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172). \r\n\r\nGenomic analysis of KCNQ1OT1 was not recommended as part of the diagnostic algorithm for suspected BWS in a 2018 international consensus review (PMID 29377879).; to: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype. \r\n\r\nKCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. KCNQ1OT1 is maternally imprinted and paternally expressed. \r\n\r\nSingle nucleotide variants within KCNQ1OT1 have not been definitively association with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350). \r\n\r\nEggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation. \r\n\r\nMicrodeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LoF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172). \r\n\r\nGenomic analysis of KCNQ1OT1 was not recommended as part of the diagnostic algorithm for suspected BWS in a 2018 international consensus review (PMID 29377879).",
"entity_name": "KCNQ1OT1",
"entity_type": "gene"
},
{
"created": "2021-10-15T16:21:23.082738+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.13",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "changed review comment from: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype. \r\n\r\nKCNQ1OT1 encodes the regulatory non-coding RNA KCNQ1OT1 and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. KCNQ1OT1 is maternally imprinted and paternally expressed. \r\n\r\nSingle nucleotide variants within KCNQ1OT1 have not been definitively association with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350). \r\n\r\nEggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation. \r\n\r\nMicrodeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involved neighboring genes KCNQ1 or CDKN1C. LOF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172). \r\n\r\nGenomic analysis of KCNQ1OT1 was not recommended as part of the diagnostic algorithm for suspected BWS in a 2018 international consensus review (PMID 29377879).; to: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype. \r\n\r\nKCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. KCNQ1OT1 is maternally imprinted and paternally expressed. \r\n\r\nSingle nucleotide variants within KCNQ1OT1 have not been definitively association with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350). \r\n\r\nEggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation. \r\n\r\nMicrodeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LOF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172). \r\n\r\nGenomic analysis of KCNQ1OT1 was not recommended as part of the diagnostic algorithm for suspected BWS in a 2018 international consensus review (PMID 29377879).",
"entity_name": "KCNQ1OT1",
"entity_type": "gene"
},
{
"created": "2021-10-15T16:10:40.525394+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.13",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "reviewed gene: KCNQ1OT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29377879, 10220444, 32447323, 33177595, 29047350; Phenotypes: Growth restriction, Beckwith-Wiedemann Syndrome, Russell-Silver Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "KCNQ1OT1",
"entity_type": "gene"
},
{
"created": "2021-10-15T14:18:46.666552+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.13",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "reviewed gene: L3MBTL1: Rating: RED; Mode of pathogenicity: None; Publications: 23543057; Phenotypes: ; Mode of inheritance: None",
"entity_name": "L3MBTL1",
"entity_type": "gene"
},
{
"created": "2021-10-15T13:26:31.400460+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.13",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "gene: ZAR1 was added\ngene: ZAR1 was added to Imprinting disorders. Sources: Literature\nMode of inheritance for gene: ZAR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZAR1 were set to 29574422; 31598710; 12539046\nPhenotypes for gene: ZAR1 were set to Multi locus imprinting disturbance in offspring\nPenetrance for gene: ZAR1 were set to unknown\nReview for gene: ZAR1 was set to AMBER\nAdded comment: Proposed classification: Amber, pending further evidence.\r\n\r\nSingle report of biallelic variants in this gene in a mother of a child with Multi locus imprinting disturbance (MLID) with some features of Beckwith Wiedemann Syndrome. \r\n\r\nShown to be a maternal effect gene that functions at the oocyte to embryo transition. \nSources: Literature",
"entity_name": "ZAR1",
"entity_type": "gene"
},
{
"created": "2021-10-15T13:20:44.287097+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.13",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "gene: UHRF1 was added\ngene: UHRF1 was added to Imprinting disorders. Sources: Literature\nMode of inheritance for gene: UHRF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UHRF1 were set to 29574422; 28976982\nPhenotypes for gene: UHRF1 were set to Multi locus imprinting disturbance in offspring\nPenetrance for gene: UHRF1 were set to unknown\nReview for gene: UHRF1 was set to AMBER\nAdded comment: Proposed classification: Amber, pending further evidence.\r\n\r\nSingle report of biallelic variants in this gene in a mother of a child with Multi locus imprinting disturbance (MLID) and Silver Russell Syndrome phenotype.\r\n\r\nMaenohara et al demonstrate functions of UHRF1 during the global epigenetic reprogramming of oocytes and early embryos. \nSources: Literature",
"entity_name": "UHRF1",
"entity_type": "gene"
},
{
"created": "2021-10-15T13:06:51.275611+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.13",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "gene: OOEP was added\ngene: OOEP was added to Imprinting disorders. Sources: Literature\nMode of inheritance for gene: OOEP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OOEP were set to 29574422\nPhenotypes for gene: OOEP were set to Multi locus imprinting disturbance in offspring\nPenetrance for gene: OOEP were set to unknown\nReview for gene: OOEP was set to AMBER\nAdded comment: Proposed classification: Amber, pending further evidence.\r\n\r\nSingle report of biallelic variants in this gene in a mother of a child with Multi locus imprinting disturbance (MLID) and a transient neonatal diabetes mellitus phenotype. \r\n\r\nThis gene encodes part of the subcortical maternal complex (SCMC). Other genes in this group act as 'maternal effect' genes and are associated with early embryonic arrest, recurrent hydatiform mole and MLID in offspring.\r\n\r\nAs is the case for other genes encoding components of the SCMC, the pathogenicity of variants can be difficult to establish as reproductive outcomes are not recorded in genomic databases and variants may be listed in population databases as they are not classed as pathogenic in males or women with no reproductive history.\r\n\r\nFunctional studies of genes encoding components of the SCMC are limited as their expression is restricted to the oocyte and early embryo. \nSources: Literature",
"entity_name": "OOEP",
"entity_type": "gene"
},
{
"created": "2021-10-15T12:55:49.327908+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.13",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "gene: TLE6 was added\ngene: TLE6 was added to Imprinting disorders. Sources: Literature\nMode of inheritance for gene: TLE6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TLE6 were set to 26537248; 25542835\nPhenotypes for gene: TLE6 were set to Pre-implantation embryonic lethality MIM#616814\nPenetrance for gene: TLE6 were set to unknown\nReview for gene: TLE6 was set to AMBER\nAdded comment: The first report of a single homozygous missense variant in three women from two families with primary infertility was published in 2015. In 2021, Zheng et al reported six biallelic variants in TLE6 in five patients with embryonic arrest, accompanied by direct cleavage and severe fragmentation at the cleavage stage. A mechanism is proposed. \r\n\r\nI am uncertain regarding classification of this gene (amber vs green) due to the low specificity of this phenotype. I am uncertain if the changes seen in the early embryo, such as fragmentation, make this phenotype more specific. \r\n\r\nAs is the case for other genes encoding components of the subcortical maternal complex (SCMC), the pathogenicity of variants can be difficult to establish as reproductive outcomes are not recorded in genomic databases and variants may be listed in population databases as they are not classed as pathogenic in males or women with no reproductive history.\r\n\r\nFunctional studies of genes encoding components of the SCMC are limited as their expression is restricted to the oocyte and early embryo. \nSources: Literature",
"entity_name": "TLE6",
"entity_type": "gene"
},
{
"created": "2021-10-15T11:59:09.838931+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.13",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "edited their review of gene: NLRP7: Added comment: There is one report of an individual with recurrent hydatiform mole and biallelic variants in this gene who experienced a single digynic triploid pregnancy presenting as a CHM, whereas other pregnancies were BiCHM (23125094).; Changed publications: 16462743, 28561018, 29574422, 19246479, 22315435, 19066229, 23722513, 23125094",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2021-10-15T11:58:23.289909+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.13",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "gene: KHDC3L was added\ngene: KHDC3L was added to Imprinting disorders. Sources: Literature\nMode of inheritance for gene: KHDC3L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: KHDC3L were set to 23232697; 31847873; 23125094; 21885028\nPhenotypes for gene: KHDC3L were set to Hydatiform mold recurrent 2 MIM#614293\nPenetrance for gene: KHDC3L were set to unknown\nReview for gene: KHDC3L was set to GREEN\nAdded comment: Biallelic pathogenic variants in the gene have been associated with Biparental complete hydatifom mole (BiCHM) in multiple individuals. There is one report of an individual with recurrent hydatiform mole and biallelic variants in this gene who experienced a single digynic triploid pregnancy presenting as a CHM, whereas other pregnancies were BiCHM (23125094).\r\n\r\nMost reported individuals have been found to carry biallelic pathogenic variants in this gene. A minority have been found to carry a heterozygous variant only. A relationship between zygosity and severity of the condition has not been definitively established.\r\n\r\nAs is the case for other genes encoding components of the subcortical maternal complex (SCMC), the pathogenicity of variants can be difficult to establish as reproductive outcomes are not recorded in genomic databases and variants may be listed in population databases as they are not classed as pathogenic in males or women with no reproductive history.\r\n\r\nFunctional studies of genes encoding components of the SCMC are limited as their expression is restricted to the oocyte and early embryo. \nSources: Literature",
"entity_name": "KHDC3L",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:48:40.861611+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSRP1 as ready",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:48:40.851664+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsrp1 has been classified as Green List (High Evidence).",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:48:29.221445+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NSRP1 as Green List (high evidence)",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:48:29.211720+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsrp1 has been classified as Green List (High Evidence).",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:48:10.133205+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NSRP1 was added\ngene: NSRP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSRP1 were set to 34385670\nPhenotypes for gene: NSRP1 were set to Epilepsy; Cerebral palsy; microcephaly; Intellectual disability\nReview for gene: NSRP1 was set to GREEN\nAdded comment: Novel gene regulating splicing. Biallelic LoF pathogenic variants reported in 6 individuals from 3 unrelated families associated with a phenotype characterized by developmental delay, epilepsy, microcephaly, and spastic cerebral palsy. \nSources: Literature",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:46:33.692558+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSRP1 as ready",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:46:33.680988+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsrp1 has been classified as Green List (High Evidence).",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:46:27.864384+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NSRP1 as Green List (high evidence)",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:46:27.848837+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsrp1 has been classified as Green List (High Evidence).",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:46:00.518129+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NSRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:45:34.298553+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSRP1 as ready",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:45:34.286408+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsrp1 has been classified as Green List (High Evidence).",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:43:01.129893+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NSRP1 as Green List (high evidence)",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:43:01.119566+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsrp1 has been classified as Green List (High Evidence).",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:42:30.835519+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NSRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:42:04.346893+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSRP1 as ready",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:42:04.337355+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsrp1 has been classified as Green List (High Evidence).",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:41:58.715797+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NSRP1 as Green List (high evidence)",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:41:58.705060+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsrp1 has been classified as Green List (High Evidence).",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:41:35.522300+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NSRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:41:13.527046+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSRP1 as ready",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:41:13.517300+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsrp1 has been classified as Green List (High Evidence).",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2021-10-14T18:40:52.365952+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NSRP1 as Green List (high evidence)",
"entity_name": "NSRP1",
"entity_type": "gene"
}
]
}