HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=518",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=516",
"results": [
{
"created": "2023-11-15T06:23:46.171650+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TOMM7: Changed phenotypes: Garg-Mishra progeroid syndrome, MIM# 620601",
"entity_name": "TOMM7",
"entity_type": "gene"
},
{
"created": "2023-11-15T06:23:25.952884+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOMM7 were changed from Inborn mitochondrial disorder MONDO:0004069, TOMM7-related to Garg-Mishra progeroid syndrome, MIM# 620601",
"entity_name": "TOMM7",
"entity_type": "gene"
},
{
"created": "2023-11-15T06:23:00.739819+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TOMM7: Changed phenotypes: Garg-Mishra progeroid syndrome, MIM# 620601",
"entity_name": "TOMM7",
"entity_type": "gene"
},
{
"created": "2023-11-15T06:21:48.820179+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCAT were changed from Leber hereditary optic neuropathy, autosomal recessive, MONDO:0030309 to Optic atrophy 15, MIM# 620583",
"entity_name": "MCAT",
"entity_type": "gene"
},
{
"created": "2023-11-15T06:21:07.994863+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MCAT: Changed phenotypes: Optic atrophy 15, MIM# 620583",
"entity_name": "MCAT",
"entity_type": "gene"
},
{
"created": "2023-11-15T06:20:11.135264+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCAT were changed from Leber hereditary optic neuropathy, autosomal recessive, MONDO:0030309 to Optic atrophy 15, MIM# 620583",
"entity_name": "MCAT",
"entity_type": "gene"
},
{
"created": "2023-11-15T06:19:48.854732+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCAT were set to 31915829",
"entity_name": "MCAT",
"entity_type": "gene"
},
{
"created": "2023-11-15T06:19:23.336765+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MCAT: Added comment: Second individual reported in PMID 33918393; Changed publications: 33918393",
"entity_name": "MCAT",
"entity_type": "gene"
},
{
"created": "2023-11-15T06:18:36.543245+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MCAT: Changed phenotypes: Optic atrophy 15, MIM# 620583",
"entity_name": "MCAT",
"entity_type": "gene"
},
{
"created": "2023-11-14T21:56:42.223732+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.313",
"user_name": "Ceecee Britten-Jones",
"item_type": "entity",
"text": "reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 21633169, 21839733, 23289003, 22961344, 24638895, 2329559, 23040494, 25515806, 35534675, 22641149, 26708639; Phenotypes: 617912; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GATA5",
"entity_type": "gene"
},
{
"created": "2023-11-14T11:51:51.632938+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POT1 was added\ngene: POT1 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: POT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POT1 were set to 33119245\nPhenotypes for gene: POT1 were set to Hereditary neoplastic syndrome, MONDO:0015356, POT1-related\nReview for gene: POT1 was set to GREEN\ngene: POT1 was marked as current diagnostic\nAdded comment: Well-established telomere disorder with a variety of solid and haematological malignancies reported. The mechanism of disease is loss of function leading to overall telomere lengthening, and resulting in fragile and dysfunctional telomeres. \nSources: Expert list",
"entity_name": "POT1",
"entity_type": "gene"
},
{
"created": "2023-11-14T11:19:03.419574+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1364",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MDM4 as ready",
"entity_name": "MDM4",
"entity_type": "gene"
},
{
"created": "2023-11-14T11:19:03.409354+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1364",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mdm4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MDM4",
"entity_type": "gene"
},
{
"created": "2023-11-14T11:18:56.683155+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1364",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MDM4 as Amber List (moderate evidence)",
"entity_name": "MDM4",
"entity_type": "gene"
},
{
"created": "2023-11-14T11:18:56.671870+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1364",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mdm4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MDM4",
"entity_type": "gene"
},
{
"created": "2023-11-14T11:16:23.922722+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1363",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MDM4 was added\ngene: MDM4 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: MDM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MDM4 were set to 32300648; 33104793\nPhenotypes for gene: MDM4 were set to bone marrow failure syndrome MONDO:0000159, MDM4-related\nReview for gene: MDM4 was set to AMBER\nAdded comment: A single family was reported to segregate a missense variant (p.Thr454Met) with features suggestive of dyskeratosis congenita, e.g., bone marrow hypocellularity, short telomeres, tongue squamous cell carcinoma, and acute myeloid leukemia. A mouse model of p.Thr454Met showed increased p53 activity, decreased telomere length, and bone marrow failure. \nSources: Other",
"entity_name": "MDM4",
"entity_type": "gene"
},
{
"created": "2023-11-14T11:14:39.753304+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MDM4 as ready",
"entity_name": "MDM4",
"entity_type": "gene"
},
{
"created": "2023-11-14T11:14:39.739604+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mdm4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MDM4",
"entity_type": "gene"
},
{
"created": "2023-11-14T11:12:19.233548+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MDM4 as Amber List (moderate evidence)",
"entity_name": "MDM4",
"entity_type": "gene"
},
{
"created": "2023-11-14T11:12:19.223659+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mdm4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MDM4",
"entity_type": "gene"
},
{
"created": "2023-11-14T11:11:27.197786+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.55",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MDM4 was added\ngene: MDM4 was added to Bone Marrow Failure. Sources: Other\nMode of inheritance for gene: MDM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MDM4 were set to 32300648; 33104793\nPhenotypes for gene: MDM4 were set to bone marrow failure syndrome MONDO:0000159, MDM4-related\nReview for gene: MDM4 was set to AMBER\nAdded comment: A single family was reported to segregate a missense variant (p.Thr454Met) with features suggestive of dyskeratosis congenita, e.g., bone marrow hypocellularity, short telomeres, tongue squamous cell carcinoma, and acute myeloid leukemia. A mouse model of p.Thr454Met showed increased p53 activity, decreased telomere length, and bone marrow failure. \nSources: Other",
"entity_name": "MDM4",
"entity_type": "gene"
},
{
"created": "2023-11-12T17:20:46.115489+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1362",
"user_name": "Ling Sun",
"item_type": "entity",
"text": "changed review comment from: THOC6 homozygous or compound heterozygous variants are associated with Beaulieu-Boycott-Innes syndrome. Clinical spectrum is heterogenous, with major phenotype DD and ID (Note that this gene is already on the ID panel). Some are affected with structural cardiac anomalies, therefore not all individuals with BBIS have cardiac anomalies (hence, not a major phenotype). \r\n\r\nPMID 35426486: Two siblings with maternally inherited c.[298T>A;700G>T;824G>A], p.[(Trp100Arg);(Val234Leu);(Gly275Asp)] and paternally inherited c.977T>G, p.(Val326Gly) [compound het]\r\n\r\nPMID: 30476144: A boy with mat UPD homozygous c.(298T>A; 700G>C; 824G>C)\r\nA girl with maternally inherited c.(298T>A, 700G>C, 824G>A) and paternally inherited c.569G>A, p.(Gly190Glu) [compount het]\r\n\r\nPMID: 32282736: A boy with paternally inherited c.664T>C (p.Trp222Arg) and maternally inherited c.945+1 G>A [compound het]; to: THOC6 homozygous or compound heterozygous variants are associated with Beaulieu-Boycott-Innes syndrome. Clinical spectrum is heterogenous, with major phenotype DD and ID (Note that this gene is already on the ID panel). Some are affected with structural cardiac anomalies, therefore not all individuals with BBIS have cardiac anomalies (hence, not a major phenotype, eg. see https://databases.lovd.nl/shared/diseases/03390).\r\n\r\nPMID 35426486: Two siblings with maternally inherited c.[298T>A;700G>T;824G>A], p.[(Trp100Arg);(Val234Leu);(Gly275Asp)] and paternally inherited c.977T>G, p.(Val326Gly) [compound het]\r\n\r\nPMID: 30476144: A boy with mat UPD homozygous c.(298T>A; 700G>C; 824G>C)\r\nA girl with maternally inherited c.(298T>A, 700G>C, 824G>A) and paternally inherited c.569G>A, p.(Gly190Glu) [compount het]\r\n\r\nPMID: 32282736: A boy with paternally inherited c.664T>C (p.Trp222Arg) and maternally inherited c.945+1 G>A [compound het]",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2023-11-12T17:19:19.587631+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1362",
"user_name": "Ling Sun",
"item_type": "entity",
"text": "changed review comment from: THOC6 homozygous or compound heterozygous variants are associated with Beaulieu-Boycott-Innes syndrome. Clinical spectrum is heterogenous, with major phenotype DD and ID (Note that this gene is already on the ID panel). Some are affected with structural cardiac anomalies, therefore not all individuals with BBIS have cardiac anomalies (hence, not a major phenotype). \r\n\r\nPMID 35426486: Two siblings with maternally inherited c.[298T>A;700G>T;824G>A], p.[(Trp100Arg);(Val234Leu);(Gly275Asp)] and paternally inherited c.977T>G, p.(Val326Gly) \r\n\r\nPMID: 30476144: A boy with mat UPD homozygous c.(298T>A; 700G>C; 824G>C)\r\nA girl with maternally inherited c.(298T>A, 700G>C, 824G>A) and paternally inherited c.569G>A, p.(Gly190Glu); to: THOC6 homozygous or compound heterozygous variants are associated with Beaulieu-Boycott-Innes syndrome. Clinical spectrum is heterogenous, with major phenotype DD and ID (Note that this gene is already on the ID panel). Some are affected with structural cardiac anomalies, therefore not all individuals with BBIS have cardiac anomalies (hence, not a major phenotype). \r\n\r\nPMID 35426486: Two siblings with maternally inherited c.[298T>A;700G>T;824G>A], p.[(Trp100Arg);(Val234Leu);(Gly275Asp)] and paternally inherited c.977T>G, p.(Val326Gly) [compound het]\r\n\r\nPMID: 30476144: A boy with mat UPD homozygous c.(298T>A; 700G>C; 824G>C)\r\nA girl with maternally inherited c.(298T>A, 700G>C, 824G>A) and paternally inherited c.569G>A, p.(Gly190Glu) [compount het]\r\n\r\nPMID: 32282736: A boy with paternally inherited c.664T>C (p.Trp222Arg) and maternally inherited c.945+1 G>A [compound het]",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2023-11-12T17:14:26.940078+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1362",
"user_name": "Ling Sun",
"item_type": "entity",
"text": "changed review comment from: THOC6 homozygous or compound heterozygous variants are associated with Beaulieu-Boycott-Innes syndrome. Clinical spectrum is heterogenous, with major phenotype DD and ID (Note that this gene is already on the ID panel). Some are affected with structural cardiac anomalies (syndromic phenotype).\r\n\r\nPMID 35426486: Two siblings with maternally inherited c.[298T>A;700G>T;824G>A], p.[(Trp100Arg);(Val234Leu);(Gly275Asp)] and paternally inherited c.977T>G, p.(Val326Gly) \r\n\r\nPMID: 30476144: A boy with mat UPD homozygous c.(298T>A; 700G>C; 824G>C)\r\nA girl with maternally inherited c.(298T>A, 700G>C, 824G>A) and paternally inherited c.569G>A, p.(Gly190Glu); to: THOC6 homozygous or compound heterozygous variants are associated with Beaulieu-Boycott-Innes syndrome. Clinical spectrum is heterogenous, with major phenotype DD and ID (Note that this gene is already on the ID panel). Some are affected with structural cardiac anomalies, therefore not all individuals with BBIS have cardiac anomalies (hence, not a major phenotype). \r\n\r\nPMID 35426486: Two siblings with maternally inherited c.[298T>A;700G>T;824G>A], p.[(Trp100Arg);(Val234Leu);(Gly275Asp)] and paternally inherited c.977T>G, p.(Val326Gly) \r\n\r\nPMID: 30476144: A boy with mat UPD homozygous c.(298T>A; 700G>C; 824G>C)\r\nA girl with maternally inherited c.(298T>A, 700G>C, 824G>A) and paternally inherited c.569G>A, p.(Gly190Glu)",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2023-11-12T17:01:39.910588+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1362",
"user_name": "Ling Sun",
"item_type": "entity",
"text": "reviewed gene: THOC6: Rating: AMBER; Mode of pathogenicity: None; Publications: 35426486, 30476144; Phenotypes: VSD/ASD, severe aortic and left ventricular hypoplasia, Mild dilation of the right chambers and a mild myocardial hypertrophy secondary to a chronic hypertension, ventriculomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2023-11-10T18:26:19.008743+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD4 as ready",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2023-11-10T18:26:18.996994+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd4 has been classified as Green List (High Evidence).",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2023-11-10T18:26:15.167425+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD4 were changed from to Sifrim-Hitz-Weiss syndrome (MIM#617159)",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2023-11-10T18:25:31.772894+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD4 were set to ",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2023-11-10T18:25:05.693495+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2023-11-10T16:24:41.025047+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.0",
"user_name": "Seb Lunke",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-11-10T16:23:30.268270+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.1",
"user_name": "Seb Lunke",
"item_type": "panel",
"text": "Panel status changed from internal to public\nPanel types changed to Victorian Clinical Genetics Services",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-11-10T12:19:06.494592+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.310",
"user_name": "Polly McIntosh",
"item_type": "entity",
"text": "changed review comment from: OMIM 617159 Sifrim-Hitz-Weiss Syndrome (Also called CHD4 Neurodevelopmental Disorder)\r\n31 de novo cases with Sifrim-Hitz-Weiss Syndrome PMID 31388190: \r\n72% of patients assessed (21/29) had structural heart abnormalities inc. septal defects, tetrology of Fallot and truncus arteriosus.\r\nFunctional studies on engineered cells with CHD4 variants showed reduced ATPase activity and reduced chromatin remodeling (PMID 31388190). Mouse studies on another CHD4 variant showed ventricular hypertrabeculation in CHD4 variant mice (PMID 37254794); to: OMIM 617159 Sifrim-Hitz-Weiss Syndrome (Also called CHD4 Neurodevelopmental Disorder)\r\n31 de novo cases with Sifrim-Hitz-Weiss Syndrome PMID 31388190: \r\n72% of patients assessed (21/29) had structural heart abnormalities inc. septal defects, tetrology of Fallot and truncus arteriosus.\r\nFunctional studies on engineered cells with CHD4 variants showed reduced ATPase activity and reduced chromatin remodeling (PMID 31388190). Mouse studies on another CHD4 variant showed ventricular hypertrabeculation in CHD4 variant mice (PMID 37254794)",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2023-11-10T12:17:03.573190+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.310",
"user_name": "Polly McIntosh",
"item_type": "entity",
"text": "reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31388190, 31474762, 27479907, 27616479, 24348274, 37254794; Phenotypes: Developmental delay, intellectual disability, ophthalmological abnormalities, congenital heart defects, hypotonia, hearing impairment, cryptorchidism, macrocephaly, skeletal abnormalities, hypogonadism, short stature, hydrocephalus; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2023-11-10T10:33:28.898516+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LZTR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2023-11-10T10:32:58.818191+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LZTR1 as Green List (high evidence)",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2023-11-10T10:32:58.807984+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lztr1 has been classified as Green List (High Evidence).",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2023-11-10T10:32:27.015004+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 10, MIM# 616564, Noonan syndrome 2, MIM# 605275; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2023-11-09T13:43:50.934071+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCIRG1 as ready",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2023-11-09T13:43:50.921693+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcirg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2023-11-09T13:43:41.054305+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TCIRG1 as Amber List (moderate evidence)",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2023-11-09T13:43:41.038101+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcirg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2023-11-09T13:42:57.994528+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCIRG1 was added\ngene: TCIRG1 was added to Phagocyte Defects. Sources: Expert Review\nMode of inheritance for gene: TCIRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TCIRG1 were set to 24753205; 35573728\nPhenotypes for gene: TCIRG1 were set to severe congenital neutropenia, MONDO:0018542\nReview for gene: TCIRG1 was set to AMBER\nAdded comment: Biallelic variants in this gene have already been associated with Osteopetrosis (MIM #259700).\r\n\r\nNewer reports of individuals with monoallelic TCIRG1 variants and congenital neutropenia.\r\n\r\nPMID:24753205 reported a five generation family segregating a novel SNV in TCIRG1 (p.Arg736Ser) with congenital neutropenia.\r\n\r\nPMID:35573728 - A seven years old patient suspected for Congenital Neutropenia, having symptoms related to chronic infections was reported with p.Val52Leu variant. \nSources: Expert Review",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2023-11-09T13:39:35.047937+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TCIRG1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2023-11-09T07:54:58.468754+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DAW1 were changed from Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677 to Primary ciliary dyskinesia, with or without heterotaxy, MIM#620570",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2023-11-09T07:54:37.559537+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DAW1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia, with or without heterotaxy, MIM#620570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2023-11-09T07:54:16.722132+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DAW1 were changed from Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677 to Primary ciliary dyskinesia, with or without heterotaxy, MIM#620570",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2023-11-09T07:53:45.828946+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DAW1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia, with or without heterotaxy, MIM#620570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2023-11-09T07:53:23.129205+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DAW1 were changed from Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677 to Primary ciliary dyskinesia, with or without heterotaxy, MIM#620570",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2023-11-09T07:51:24.156770+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS2 were changed from Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228 to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228; Leber hereditary optic neuropathy, autosomal recessive 2, MIM# 620569",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2023-11-09T07:50:49.001817+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28031252; Phenotypes: Leber hereditary optic neuropathy, autosomal recessive 2, MIM# 620569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2023-11-08T22:40:32.800226+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1361",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: TCIRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24753205, 35573728; Phenotypes: severe congenital neutropenia, MONDO:0018542; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2023-11-08T16:56:15.650088+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5611",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP4 were changed from Neurodevelopmental disorder (MONDO#0700092), FOXP4-related to Neurodevelopmental disorder (MONDO#0700092), FOXP4-related",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2023-11-08T16:55:55.034391+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5611",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP4 were changed from Neurodevelopmental disorder (MONDO#0700092), FOXP4-related to Neurodevelopmental disorder (MONDO#0700092), FOXP4-related",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2023-11-08T16:55:23.183243+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5610",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP4 were changed from Neurodevelopmental disorder; multiple congenital abnormalities to Neurodevelopmental disorder (MONDO#0700092), FOXP4-related",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2023-11-08T16:55:06.042152+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5609",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: FOXP4 were set to 33110267",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2023-11-08T16:54:45.175276+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5609",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: FOXP4 as Green List (high evidence)",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2023-11-08T16:54:45.098170+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5609",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: foxp4 has been classified as Green List (High Evidence).",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2023-11-08T13:02:58.187431+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.308",
"user_name": "Emanuel Birru",
"item_type": "entity",
"text": "gene: LZTR1 was added\ngene: LZTR1 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: LZTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: LZTR1 were set to PMID: 30368668; 34184824\nPhenotypes for gene: LZTR1 were set to Cardiac defects; hypertrophic cardiomyopathy; atrial septal defect; pulmonary stenosis; short stature; intellectual disabilities\nPenetrance for gene: LZTR1 were set to Incomplete\nReview for gene: LZTR1 was set to GREEN\nAdded comment: Several variants of LZTR1 demonstrate compound heterozygosity, implying an autosomal recessive mode of inheritance. Patients with LZTR1 variants had cardiac defects, and these LZTR1 variants are linked to a spectrum of conditions, including Noonan syndrome (NS), Costello syndrome, cardiofaciocutaneous syndrome, and other related disorders.\r\n\r\nMany patients carrying LZTR1 variants are clinically suspected to have Noonan syndrome due to the presence of shared clinical features associated with NS. These features encompass relative macrocephaly, NS-associated facial characteristics, heart defects, intellectual disability, and short stature. \nSources: Literature",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2023-11-06T19:25:46.928895+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLA2G6 as ready",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-11-06T19:25:46.904094+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pla2g6 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-11-06T19:25:34.662638+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLA2G6 as Green List (high evidence)",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-11-06T19:25:34.653631+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pla2g6 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-11-06T19:24:56.448406+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLA2G6 was added\ngene: PLA2G6 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLA2G6 were set to 30340910\nPhenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation 2B MIM#610217\nReview for gene: PLA2G6 was set to GREEN\nAdded comment: Sixteen cases of PLA2G6-associated neurodegeneration (PLAN) were examined in PMID: 30340910. Seizures were evident in 5/10 cases with infantile PLAN and in 3/6 cases with childhood PLAN. A total of nine PLA2G6 variants were associated with a phenotype that included seizures. \nSources: Expert Review",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-11-06T19:22:11.152367+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIT1 as ready",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2023-11-06T19:22:11.140205+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trit1 has been classified as Green List (High Evidence).",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2023-11-06T19:22:02.336202+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIT1 as Green List (high evidence)",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2023-11-06T19:22:02.323983+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trit1 has been classified as Green List (High Evidence).",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2023-11-06T19:21:45.617752+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIT1 was added\ngene: TRIT1 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIT1 were set to 36049610; 32088416\nPhenotypes for gene: TRIT1 were set to Combined oxidative phosphorylation deficiency 35, MIM#617873\nReview for gene: TRIT1 was set to GREEN\nAdded comment: Presentations with IUGR reported. \nSources: Expert Review",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2023-11-06T19:15:07.806662+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBGCP2 were changed from Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737; Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2023-11-06T19:14:49.579280+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TUBGCP2: Changed phenotypes: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737, Lissencephaly, pachygyria, subcortical band heterotopia, microcephaly, intellectual disability",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2023-11-06T19:08:36.222949+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PSMB10 were set to 31783057",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2023-11-06T19:08:06.415991+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMB10 as Green List (high evidence)",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2023-11-06T19:08:06.391071+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmb10 has been classified as Green List (High Evidence).",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2023-11-06T19:07:41.946822+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSMB10: Added comment: PMID 37600812: 3 additional unrelated patients with compound heterozygous variants with structural modelling of proteasome assembly.; Changed rating: GREEN; Changed publications: 31783057, 37600812",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2023-11-06T19:07:34.227705+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PSMB10 were set to 31783057",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2023-11-06T19:06:05.786339+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMB10 as Green List (high evidence)",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2023-11-06T19:06:05.772675+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmb10 has been classified as Green List (High Evidence).",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2023-11-06T15:39:10.716165+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARCN1 as ready",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2023-11-06T15:39:10.704143+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arcn1 has been classified as Green List (High Evidence).",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2023-11-06T15:39:03.060257+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARCN1 were set to 27476655",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2023-11-06T15:38:52.260208+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARCN1 as Green List (high evidence)",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2023-11-06T15:38:52.249292+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arcn1 has been classified as Green List (High Evidence).",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2023-11-06T14:46:49.531519+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.308",
"user_name": "Zoe Ward",
"item_type": "entity",
"text": "reviewed gene: MYH11: Rating: AMBER; Mode of pathogenicity: Other; Publications: 27418595, 16444274, 21937134, 17666408, 22968129, 37306888; Phenotypes: Patent Ductus Arteriosus (PDA); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2023-11-06T14:06:01.679018+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FYB1 as ready",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2023-11-06T14:06:01.660395+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fyb1 has been classified as Green List (High Evidence).",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2023-11-06T13:51:58.690558+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FYB1 as Green List (high evidence)",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2023-11-06T13:51:58.680467+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fyb1 has been classified as Green List (High Evidence).",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2023-11-06T13:51:28.386812+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FYB1 was added\ngene: FYB1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: FYB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FYB1 were set to 25516138; 25876182\nPhenotypes for gene: FYB1 were set to Thrombocytopenia 3, MIM# 273900\nReview for gene: FYB1 was set to GREEN\nAdded comment: Two families with LoF variants and segregation reported in the literature. Aware of two additional cases through clinical testing (Prevention Genetics).\r\n\r\nGood functional evidence, including mouse models.\r\n\r\nModerate by ClinGen, though note score was in 'Strong' range and downgraded due to two families in the literature only. \nSources: Expert Review",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2023-11-06T13:48:55.090313+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FYB1 as Green List (high evidence)",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2023-11-06T13:48:55.077863+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fyb1 has been classified as Green List (High Evidence).",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2023-11-06T13:48:22.712983+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FYB1: Added comment: Two further cases through clinical testing (Prevention Genetics) with homozygous LoF variant.; Changed rating: GREEN; Changed phenotypes: Thrombocytopenia 3, MIM# 273900",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:53:11.230780+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCTS1 as ready",
"entity_name": "MCTS1",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:53:11.217799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcts1 has been classified as Green List (High Evidence).",
"entity_name": "MCTS1",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:53:00.855966+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCTS1 as Green List (high evidence)",
"entity_name": "MCTS1",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:53:00.848048+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcts1 has been classified as Green List (High Evidence).",
"entity_name": "MCTS1",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:52:24.070838+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCTS1 was added\ngene: MCTS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MCTS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MCTS1 were set to 37875108\nPhenotypes for gene: MCTS1 were set to Inherited susceptibility to mycobacterial diseases, MONDO:0019146, MCTS1-related\nReview for gene: MCTS1 was set to GREEN\nAdded comment: 6 male subjects from 5 kindreds with LOF MCTS-1 variants with MSMD. \r\nExtensive ex-vivo functional validation and mouse model. \nSources: Literature",
"entity_name": "MCTS1",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:34:51.471577+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC9 as ready",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:34:51.452000+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc9 has been classified as Green List (High Evidence).",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:34:41.240134+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC9 were changed from Cardiomyopathy, dilated, 1O; Dilated Cardiomyopathy, Dominant to Hypertrichotic osteochondrodysplasia (Cantu syndrome), MIM# 239850; Cardiomyopathy, dilated, 1O; Dilated Cardiomyopathy, Dominant",
"entity_name": "ABCC9",
"entity_type": "gene"
}
]
}