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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=550",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=548",
"results": [
{
"created": "2023-09-11T19:02:33.775542+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aip has been classified as Red List (Low Evidence).",
"entity_name": "AIP",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:02:18.922726+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AIP: Changed rating: RED",
"entity_name": "AIP",
"entity_type": "gene"
},
{
"created": "2023-09-11T18:17:27.647692+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHOX2B as ready",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2023-09-11T18:17:27.639775+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phox2b has been classified as Red List (Low Evidence).",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2023-09-11T18:17:23.294785+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHOX2B were changed from Central hypoventilation syndrome to Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MIM# 209880",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2023-09-11T18:17:08.574142+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHOX2B as Red List (low evidence)",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2023-09-11T18:17:08.556259+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phox2b has been classified as Red List (Low Evidence).",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2023-09-11T18:16:57.202875+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PHOX2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MIM# 209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2023-09-11T18:09:35.836408+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIP as ready",
"entity_name": "AIP",
"entity_type": "gene"
},
{
"created": "2023-09-11T18:09:35.815928+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aip has been classified as Amber List (Moderate Evidence).",
"entity_name": "AIP",
"entity_type": "gene"
},
{
"created": "2023-09-11T18:09:31.467328+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AIP were changed from Pituitary adenoma to Pituitary adenoma predisposition, MIM# 102200",
"entity_name": "AIP",
"entity_type": "gene"
},
{
"created": "2023-09-11T18:09:14.574298+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AIP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary adenoma predisposition, MIM# 102200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AIP",
"entity_type": "gene"
},
{
"created": "2023-09-11T15:53:33.145099+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FTCD were set to 27604308; 12815595",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2023-09-11T15:53:12.092158+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FTCD: Rating: GREEN; Mode of pathogenicity: None; Publications: http://iembase.com/disorder/47; Phenotypes: Glutamate formiminotransferase deficiency MIM#229100, Disorders of histidine, tryptophan or lysine metabolism; Mode of inheritance: None",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2023-09-11T15:52:19.467315+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2023-09-11T15:51:45.323232+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FTCD: Changed publications: http://iembase.com/disorder/47",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2023-09-11T15:51:25.825558+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Well-established gene-disease association (see OMIM entry). Glutamate formiminotransferase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism. \nSources: NHS GMS; to: Glutamate formiminotransferase deficiency is classified as a benign form of folate metabolism disorder and an inborn error of amino acid metabolism without clinically significant phenotype (http://iembase.com/disorder/47).",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2023-09-11T15:50:25.824225+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5397",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FTCD as ready",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2023-09-11T15:50:25.814082+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5397",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ftcd has been classified as Amber List (Moderate Evidence).",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2023-09-11T15:46:50.479075+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5397",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FTCD were changed from to Glutamate formiminotransferase deficiency MIM#229100",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2023-09-11T15:45:35.057805+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5396",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FTCD were set to ",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2023-09-11T15:42:17.794270+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5395",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FTCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2023-09-11T15:41:48.519269+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1166",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FTCD were set to 27604308; 12815595",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2023-09-11T15:41:25.834979+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1165",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FTCD: Changed publications: http://iembase.com/disorder/47",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2023-09-11T15:41:09.301523+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1165",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Well-established gene-disease association (see OMIM entry). Glutamate formiminotransferase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism. \nSources: NHS GMS; to: Glutamate formiminotransferase deficiency is classified as a benign form of folate metabolism disorder and an inborn error of amino acid metabolism without clinically significant phenotype (http://iembase.com/disorder/47). \r\n",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2023-09-11T15:38:36.785713+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5394",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FTCD as Amber List (moderate evidence)",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2023-09-11T15:38:36.778882+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5394",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: According to IEMbase this gene is associated with a benign form of disorder of folate metabolism with no clinical significance",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2023-09-11T15:38:36.730570+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5394",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ftcd has been classified as Amber List (Moderate Evidence).",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2023-09-10T14:14:23.207944+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP1B were changed from Intellectual disability; seizures; PVNH; dysmorphic features; Periventricular nodular heterotopia 9, MIM# 618918 to Intellectual disability; seizures; PVNH; dysmorphic features; Periventricular nodular heterotopia 9, MIM# 618918; Deafness, autosomal dominant 83, MIM# 619808",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2023-09-10T14:13:54.895518+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAP1B: Added comment: At least 3 families reported with isolated deafness and mono-allelic variants.; Changed phenotypes: Intellectual disability, seizures, PVNH, dysmorphic features, Periventricular nodular heterotopia 9, MIM# 618918, Deafness, autosomal dominant 83, MIM# 619808",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2023-09-10T14:13:16.273520+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP1B were changed from Periventricular nodular heterotopia 9 MIM#618918; sensorineural hearing loss to Deafness, autosomal dominant 83, MIM# 619808",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2023-09-10T14:12:31.999928+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 83, MIM# 619808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2023-09-08T10:35:45.130722+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.264",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: None; Publications: 28211668; Phenotypes: neurodegeneration with brain iron accumulation 5 MONDO:0010476, X-linked complex neurodevelopmental disorder MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2023-09-08T10:25:18.009630+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.264",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301561, 37636221; Phenotypes: chorea-acanthocytosis MONDO:0008695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2023-09-08T08:53:10.127837+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.264",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: TUBB4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2023-09-08T08:42:26.881010+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.264",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301334, 20301610; Phenotypes: TH-deficient dopa-responsive dystonia MONDO:0011551, tyrosine hydroxylase deficiency MONDO:0100064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2023-09-07T17:06:30.538435+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.264",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: None; Publications: 22522443, 11920285, 14663042, 16443856, 21782285, 32813147; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (MIM# 612716); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2023-09-07T17:01:35.205667+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIP5K1C as ready",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-09-07T17:01:35.189036+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pip5k1c has been classified as Green List (High Evidence).",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-09-07T17:01:28.509297+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIP5K1C as Green List (high evidence)",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-09-07T17:01:28.501181+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pip5k1c has been classified as Green List (High Evidence).",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-09-07T17:00:47.424439+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIP5K1C was added\ngene: PIP5K1C was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: PIP5K1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PIP5K1C were set to 37451268\nPhenotypes for gene: PIP5K1C were set to Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related\nReview for gene: PIP5K1C was set to GREEN\nAdded comment: Three de novo heterozygous missense variants in PIP5K1C (p.Glu146Lys, p.Tyr205Cys & p.Tyr221Cys) were identified in nine unrelated children exhibiting intellectual disability, developmental delay, acquired microcephaly, seizures, visual abnormalities, and dysmorphic features. Intellectual disability was reported in all nine children and seizures were present in seven children, of which three had developmental and epileptic encephalopathy. In addition, there is functional evidence available, which includes an in vivo zebrafish model that recapitulates the human phenotype (developmental defects affecting the forebrain, including the eyes, as well as craniofacial abnormalities) (PMID:37451268). \nSources: Expert Review",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-09-07T16:58:07.443286+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GJA4 as ready",
"entity_name": "GJA4",
"entity_type": "gene"
},
{
"created": "2023-09-07T16:58:07.425405+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gja4 has been classified as Green List (High Evidence).",
"entity_name": "GJA4",
"entity_type": "gene"
},
{
"created": "2023-09-07T16:52:22.874291+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GJA4 as Green List (high evidence)",
"entity_name": "GJA4",
"entity_type": "gene"
},
{
"created": "2023-09-07T16:52:22.865688+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gja4 has been classified as Green List (High Evidence).",
"entity_name": "GJA4",
"entity_type": "gene"
},
{
"created": "2023-09-07T16:51:49.854972+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GJA4 was added\ngene: GJA4 was added to Mendeliome. Sources: Expert Review\nsomatic tags were added to gene: GJA4.\nMode of inheritance for gene: GJA4 was set to Other\nPublications for gene: GJA4 were set to 33912852\nPhenotypes for gene: GJA4 were set to Cavernous hemangioma, MONDO:0003155, GJA4-related\nReview for gene: GJA4 was set to GREEN\nAdded comment: Recurrent somatic GJA4 c.121G>T (p.Gly41Cys) mutation as a driver of hepatic (n=12) and cutaneous (n=3) vascular malformations. Induced changes in cell morphology and activated serum/glucocorticoid-regulated kinase 1 (SGK1), a serine/threonine kinase known to regulate cell proliferation and apoptosis, via non-canonical activation, in lentiviral transduction of primary human endothelial cells. \nSources: Expert Review",
"entity_name": "GJA4",
"entity_type": "gene"
},
{
"created": "2023-09-07T16:48:15.699285+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGTPBP1 as ready",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2023-09-07T16:48:15.687306+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agtpbp1 has been classified as Green List (High Evidence).",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2023-09-07T16:47:36.216470+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGTPBP1 as Green List (high evidence)",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2023-09-07T16:47:36.197386+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agtpbp1 has been classified as Green List (High Evidence).",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2023-09-07T16:47:18.436359+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGTPBP1 was added\ngene: AGTPBP1 was added to Ataxia - paediatric. Sources: Expert Review\nMode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGTPBP1 were set to 30420557\nPhenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276\nReview for gene: AGTPBP1 was set to GREEN\nAdded comment: Thirteen individuals with bi-allelic variants in this gene, complex neurological phenotype of dev delay/ID, cerebellar atrophy and neuropathy, severe progressive course in six. \nSources: Expert Review",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2023-09-07T15:31:46.211188+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAB21L2 as ready",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2023-09-07T15:31:46.185318+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mab21l2 has been classified as Green List (High Evidence).",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2023-09-07T15:31:40.178091+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAB21L2 as Green List (high evidence)",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2023-09-07T15:31:40.163680+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mab21l2 has been classified as Green List (High Evidence).",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2023-09-07T15:31:02.637905+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAB21L2 was added\ngene: MAB21L2 was added to Skeletal dysplasia. Sources: Expert Review\nMode of inheritance for gene: MAB21L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAB21L2 were set to 24906020; 25719200; 31037784; 30375740; 30073347; 26116559\nPhenotypes for gene: MAB21L2 were set to Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877\nReview for gene: MAB21L2 was set to GREEN\nAdded comment: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Several individuals with the c.151C > T (p.Arg51Cys) variant also had ID.\r\n\r\nOne family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease.\r\n\r\nThree different animal models support gene-disease association. \nSources: Expert Review",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2023-09-07T15:14:59.709019+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.264",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 35036589, 23121729, 21381113, 27217339; Phenotypes: Amyotrophic lateral sclerosis 5, juvenile (MIM# 602099), Charcot-Marie-Tooth disease, axonal, type 2X (MIM# 616668), Spastic paraplegia 11, autosomal recessive (MIM# 604360); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:46:21.191951+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTEN were changed from Cowden syndrome 1, MIM# 158350 to Cowden syndrome 1, MIM# 158350; PTEN hamartoma tumour syndrome (MONDO#0017623)",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:46:01.600630+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTEN was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:43:51.498539+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAP2 as ready",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:43:51.477530+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cap2 has been classified as Green List (High Evidence).",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:43:46.746902+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAP2 as Green List (high evidence)",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:43:46.723138+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cap2 has been classified as Green List (High Evidence).",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:43:16.759373+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A3BP were changed from Mental retardation, autosomal dominant 34, MIM# 616351 to Intellectual developmental disorder 34 (MIM#616351)",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:42:26.015400+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A3BP were set to 25533962",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:41:46.674241+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: COL4A3BP was changed from to Other",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:40:43.144005+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A3BP were changed from Mental retardation, autosomal dominant 34, MIM# 616351 to Intellectual developmental disorder 34 (MIM#616351)",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:40:03.717338+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A3BP were set to 25533962",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:39:42.862684+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: COL4A3BP was changed from to Other",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:39:05.503402+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A3BP as ready",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:39:05.480040+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a3bp has been classified as Green List (High Evidence).",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:38:53.509248+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A3BP as Green List (high evidence)",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:38:53.499824+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a3bp has been classified as Green List (High Evidence).",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:37:42.260550+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRB3 as ready",
"entity_name": "GABRB3",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:37:42.241874+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrb3 has been classified as Green List (High Evidence).",
"entity_name": "GABRB3",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:37:16.068961+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABRB3 as Green List (high evidence)",
"entity_name": "GABRB3",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:37:16.060752+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrb3 has been classified as Green List (High Evidence).",
"entity_name": "GABRB3",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:36:03.237590+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DBR1 were changed from {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441; Viral infections of the brainstem to {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441; Viral infections of the brainstem; Ichthyosis (MONDO#0019269), DBR1-related",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:34:22.561030+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DBR1: Added comment: PMID: 37656279:\r\n- A homozygous missense as a founder recessive DBR1 variant in four consanguineous families. \r\n- Total of 7 affected children. WES done for one proband from each family.\r\n- Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life.\r\n- RNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.\r\n- Haplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.\r\n- Authors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency.; Changed publications: 29474921, 37656279; Changed phenotypes: {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441, Viral infections of the brainstem, Ichthyosis (MONDO#0019269), DBR1-related",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:33:29.887718+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: DBR1.",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:33:09.286969+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: DBR1.",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:27:41.523708+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRB3 as ready",
"entity_name": "GABRB3",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:27:41.506236+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrb3 has been classified as Green List (High Evidence).",
"entity_name": "GABRB3",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:27:36.683736+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABRB3 as Green List (high evidence)",
"entity_name": "GABRB3",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:27:36.665324+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrb3 has been classified as Green List (High Evidence).",
"entity_name": "GABRB3",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:25:58.636977+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APOO were changed from Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour to Mitochondrial disease, MONDO:0044970, APOO-related; Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour",
"entity_name": "APOO",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:25:35.252371+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APOO were set to 32439808",
"entity_name": "APOO",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:25:09.590838+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: APOO: Added comment: PMID: 37649161\r\n1 family, 2 individuals (male & female) with same NMD variant c.532G>T (p.E178*), maternally inherited (mother unaffected).\r\n\r\nBoth died before 18 months of age with partial agenesis of the corpus callosum, bilateral congenital cataract, hypothyroidism, and severe immune deficiencies.\r\nOther phenotypes included partial syndactyly of the 2nd and 3rd toes, wrinkled palm, and sole skin. \r\n\r\nFunctional studies included site directed mutagenesis. This mutation resulted in a highly unstable and degradation\r\nprone MIC26 protein, yet the remaining minute amounts of mutant MIC26 correctly localized to mitochondria and \r\ninteracted physically with other MICOS subunits. MIC26 KO cells expressing MIC26 harboring the respective APOO/MIC26 mutation showed mitochondria with perturbed cristae architecture and fragmented morphology resembling MIC26 KO cells.; Changed publications: 37649161; Changed phenotypes: Mitochondrial disease, MONDO:0044970, APOO-related, Developmental delay, Lactic acidosis, Muscle weakness, Hypotonia, Repetitive infections, Cognitive impairment, Autistic behaviour",
"entity_name": "APOO",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:24:01.261224+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APOO were changed from Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour to Mitochondrial disease, MONDO:0044970, APOO-related; Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour",
"entity_name": "APOO",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:23:17.622904+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APOO were set to 32439808",
"entity_name": "APOO",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:22:31.918060+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: APOO: Changed phenotypes: Mitochondrial disease, MONDO:0044970, APOO-related, Developmental delay, Lactic acidosis, Muscle weakness, Hypotonia, Repetitive infections, Cognitive impairment, Autistic behaviour",
"entity_name": "APOO",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:20:50.461812+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB34 as ready",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:20:50.452044+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Green List (High Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:20:45.075126+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAB34 as Green List (high evidence)",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:20:45.052768+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Green List (High Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:20:11.511367+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB34 as ready",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:20:11.494471+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Green List (High Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:19:59.738666+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAB34 as Green List (high evidence)",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:19:59.730516+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Green List (High Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
}
]
}