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{
"count": 221303,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1057",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1055",
"results": [
{
"created": "2022-01-07T14:59:29.041450+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.128",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tlr8 has been classified as Red List (Low Evidence).",
"entity_name": "TLR8",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:58:03.612720+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10556",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: PRKAR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33833410; Phenotypes: Marbach-Schaaf neurodevelopmental syndrome MIM#619680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "PRKAR1B",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:57:26.132003+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4418",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: PRKAR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33833410; Phenotypes: Marbach-Schaaf neurodevelopmental syndrome MIM#619680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "PRKAR1B",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:57:24.380638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10556",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:57:14.486190+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10556",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: NAA10: Added comment: For Ogden association: \r\nlethal X-linked. 9 males from 3 families with recurrent Ser37Pro\r\nAll presenting the distinctive and recognizable phenotype, which includes mostly postnatal growth retardation, global severe developmental delay, characteristic craniofacial features, and structural cardiac anomalies and/or arrhythmias\r\n\r\nFor non-lethal syndromic ID:\r\nreported in 10 males and (mostly de novo) in 37 females\r\nvariants causing this are missense located along the protein and 1 truncating\r\n\r\nFor syndromic microopththamia: variants are in the UTR; Changed mode of inheritance: Other",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:53:20.863877+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10556",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: RPL10L was added\ngene: RPL10L was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RPL10L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: RPL10L were set to PMID:32111475\nPhenotypes for gene: RPL10L were set to MONDO_0004983, oligo-/azoospermia\nReview for gene: RPL10L was set to AMBER\nAdded comment: PMID:32111475 - cohort study of patients with oligo-/azoospermia identified a homozygous variant in two brothers with severe oligozoospermia. Three additional patients with oligo-/azoospermia had heterozygous variants. No RPL10L variants were found in the fertile control subjects.\r\n\r\nA further search did not identify additional publications. \nSources: Literature",
"entity_name": "RPL10L",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:52:02.252572+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4418",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 34075687; Phenotypes: syndromic intellectual disability MONDO:0000508; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:50:13.149399+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10556",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC35F1 as ready",
"entity_name": "SLC35F1",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:50:13.138768+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10556",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc35f1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC35F1",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:49:24.336777+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10556",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35F1 were changed from Rett-like syndrome to Neruodevelopmental disorder, MONDO:0700092, SLC35F1-associated; Rett-like syndrome",
"entity_name": "SLC35F1",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:48:25.616547+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4418",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PRKAR1B",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:47:13.585202+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.30",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - Siakallis et al (2019): 18-month old boy diagnosed with CHARGE syndrome and subsequently diagnosed with bicoronal craniosynostosis, premature synostosis of the left lambdoid and squamous sutures resulting in a turricephalic appearance of the cranial vault. He was found to carry a CHD7 stopgain variant.\r\n- Tonne et al (2020): De novo CHD7 frameshift variant identified in individual with CHARGE syndrome and late occurrence of craniosynostosis at 5 years.\r\n- De Luca et al (2021): De novo CHD7 stopgain variant identified in one newborn with CHARGE syndrome with bi-coronal craniosynostosis. Authors considered the diagnosis of craniosynostosis to be potentially independant of CHARGE syndrome. \r\nSources: Literature; to: - Siakallis et al (2019): 18-month old boy diagnosed with CHARGE syndrome and subsequently diagnosed with bicoronal craniosynostosis, premature synostosis of the left lambdoid and squamous sutures resulting in a turricephalic appearance of the cranial vault. He was found to carry a CHD7 stopgain variant.\r\n- Tonne et al (2020): De novo CHD7 frameshift variant identified in individual with CHARGE syndrome and late occurrence of craniosynostosis at 5 years.\r\n- De Luca et al (2021): De novo CHD7 stopgain variant identified in one newborn with CHARGE syndrome with bi-coronal craniosynostosis. Authors considered the diagnosis of craniosynostosis to be potentially independant of CHARGE syndrome. \r\nSources: Literature",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:46:54.737459+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4418",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: PRDM13 as ready",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:46:54.727623+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4418",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: prdm13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:46:32.605680+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10555",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLC35F1 as Red List (low evidence)",
"entity_name": "SLC35F1",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:46:32.596071+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10555",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc35f1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC35F1",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:45:41.085325+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4418",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: PRKAR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33833410; Phenotypes: Marbach-Schaaf neurodevelopmental syndrome MIM#619680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "PRKAR1B",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:44:54.780626+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.30",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - Siakallis et al (2019): 18-month old boy diagnosed with CHARGE syndrome and subsequently diagnosed with bicoronal craniosynostosis, premature synostosis of the left lambdoid and squamous sutures resulting in a turricephalic appearance of the cranial vault. He was found to carry a CHD7 stopgain variant.\r\n- Tonne et al (2020): De novo CHD7 frameshift variant identified in individual with CHARGE syndrome and late occurrence of craniosynostosis at 5 years.\r\n- De Luca et al (2021): De novo CHD7 stopgain variant identified in one newborn with CHARGE syndrome with bi-coronal craniosynostosis. Authors considered the diagnosis of craniosynostosis to be potentially independant of CHARGE syndrome. \nSources: Literature; to: - Siakallis et al (2019): 18-month old boy diagnosed with CHARGE syndrome and subsequently diagnosed with bicoronal craniosynostosis, premature synostosis of the left lambdoid and squamous sutures resulting in a turricephalic appearance of the cranial vault. He was found to carry a CHD7 stopgain variant.\r\n- Tonne et al (2020): De novo CHD7 frameshift variant identified in individual with CHARGE syndrome and late occurrence of craniosynostosis at 5 years.\r\n- De Luca et al (2021): De novo CHD7 stopgain variant identified in one newborn with CHARGE syndrome with bi-coronal craniosynostosis. Authors considered the diagnosis of craniosynostosis to be potentially independant of CHARGE syndrome. \r\nSources: Literature",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:43:54.584153+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10554",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: MYH1 as ready",
"entity_name": "MYH1",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:43:54.573037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10554",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: myh1 has been classified as Red List (Low Evidence).",
"entity_name": "MYH1",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:43:52.970731+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.127",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TLR8: Rating: RED; Mode of pathogenicity: None; Publications: 34981838; Phenotypes: Severe autoimmune hemolytic anemia and autoinflammation; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TLR8",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:43:11.658056+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10554",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: CRACR2A as ready",
"entity_name": "CRACR2A",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:43:11.645160+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10554",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cracr2a has been classified as Red List (Low Evidence).",
"entity_name": "CRACR2A",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:43:05.486871+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10554",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: PPIA was added\ngene: PPIA was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PPIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPIA were set to PMID: 34972208\nPhenotypes for gene: PPIA were set to amyotrophic lateral sclerosis, MONDO:0004976\nReview for gene: PPIA was set to RED\nAdded comment: Paper characterizes a knockout mouse model that recapitulates key features of ALS-FTD. Also identified a heterozygous missense variant in one patient with sporadic amyotrophic lateral sclerosis. Functional studies of the missense variant suggest loss-of-function. \nSources: Literature",
"entity_name": "PPIA",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:42:53.623186+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.127",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "TLR8",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:42:48.859307+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10554",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: MYH1 were changed from recurrent rhabdomyolysis to rhabdomyolysis, MONDO:0005290",
"entity_name": "MYH1",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:42:43.934199+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10554",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CRACR2A as Red List (low evidence)",
"entity_name": "CRACR2A",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:42:43.925099+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10554",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cracr2a has been classified as Red List (Low Evidence).",
"entity_name": "CRACR2A",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:42:37.628275+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.127",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "changed review comment from: Monozygotic male twins, hemizygous for the G572V (maternally inherited), who suffer from severe autoimmune hemolytic anemia (AIHA) worsening with infections, and autoinflammation presenting as fevers, enteritis, arthritis and CNS vasculitis. Functional showed variant causes impaired stability of the TLR8 protein, cross-reactivity to TLR7 ligands and reduced ability of TLR8 to attenuate TLR7 signaling. \nSources: Literature; to: Monozygotic male twins, hemizygous for the G572V (maternally inherited), who suffer from severe autoimmune hemolytic anemia (AIHA) worsening with infections, and autoinflammation presenting as fevers, enteritis, arthritis and CNS vasculitis. Functional showed variant causes impaired stability of the TLR8 protein, cross-reactivity to TLR7 ligands and reduced ability of TLR8 to attenuate TLR7 signaling. \r\nSources: Literature",
"entity_name": "TLR8",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:40:46.299192+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10553",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: DNHD1 was added\ngene: DNHD1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DNHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNHD1 were set to 34932939\nPhenotypes for gene: DNHD1 were set to Male infertility due to sperm motility disorder (MONDO:0018395)\nReview for gene: DNHD1 was set to GREEN\nAdded comment: Biallelic DNHD1 variants identified in 8 unrelated probands with asthenoteratozoospermia, reduced sperm motility and abnormal sperm morphology. DNHD1 knockout mice were infertile and had significantly reduced sperm concentration and motility rates, consistent with human individuals. \nSources: Literature",
"entity_name": "DNHD1",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:39:52.614535+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10553",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: MYH1 as Red List (low evidence)",
"entity_name": "MYH1",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:39:52.599841+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10553",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: myh1 has been classified as Red List (Low Evidence).",
"entity_name": "MYH1",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:39:34.895580+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.89",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: CCND2 was added\ngene: CCND2 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCND2 were set to 34087052\nPhenotypes for gene: CCND2 were set to Neurodevelopmental disorder, CCND2-related MONDO# 0700092; Microcephaly, MONDO# 0001149\nReview for gene: CCND2 was set to GREEN\nAdded comment: Novel phenotype of microcephaly and mild developmental delay described in three unrelated families. Variants associated with this phenotype located in the proximal region of the gene. \r\n\r\nVariants in distal region of gene associated with a reciprocal phenotype of macrocephaly/megalencephaly with severe cortical malformation. \nSources: Literature",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:38:44.970259+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.30",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: CHD7 was added\ngene: CHD7 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHD7 were set to PMID: 33844462; 30498854; 33288889\nPhenotypes for gene: CHD7 were set to CHARGE syndrome; bi-coronal craniosynostosis; premature synostosis of the left lambdoid and squamous sutures\nPenetrance for gene: CHD7 were set to Complete\nReview for gene: CHD7 was set to GREEN\ngene: CHD7 was marked as current diagnostic\nAdded comment: - Siakallis et al (2019): 18-month old boy diagnosed with CHARGE syndrome and subsequently diagnosed with bicoronal craniosynostosis, premature synostosis of the left lambdoid and squamous sutures resulting in a turricephalic appearance of the cranial vault. He was found to carry a CHD7 stopgain variant.\r\n- Tonne et al (2020): De novo CHD7 frameshift variant identified in individual with CHARGE syndrome and late occurrence of craniosynostosis at 5 years.\r\n- De Luca et al (2021): De novo CHD7 stopgain variant identified in one newborn with CHARGE syndrome with bi-coronal craniosynostosis. Authors considered the diagnosis of craniosynostosis to be potentially independant of CHARGE syndrome. \nSources: Literature",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:37:22.487671+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.127",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: TLR8 was added\ngene: TLR8 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: TLR8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TLR8 were set to 34981838\nPhenotypes for gene: TLR8 were set to Severe autoimmune hemolytic anemia and autoinflammation\nReview for gene: TLR8 was set to AMBER\nAdded comment: Monozygotic male twins, hemizygous for the G572V (maternally inherited), who suffer from severe autoimmune hemolytic anemia (AIHA) worsening with infections, and autoinflammation presenting as fevers, enteritis, arthritis and CNS vasculitis. Functional showed variant causes impaired stability of the TLR8 protein, cross-reactivity to TLR7 ligands and reduced ability of TLR8 to attenuate TLR7 signaling. \nSources: Literature",
"entity_name": "TLR8",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:37:05.937335+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4418",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM13 were changed from intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia to intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:MONDO:0016054. PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:36:39.659572+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10552",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: CCND2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34087052; Phenotypes: Neurodevelopmental disorder, CCND2-related MONDO# 0700092, Microcephaly, MONDO# 0001149; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:35:29.656554+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10552",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 34075687, 21700266; Phenotypes: Ogden syndrome MIM#300855; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:34:18.024316+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10552",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: TOPORS: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:34132027; Phenotypes: Postaxial polydactyly:multiple lingual hamartomas:dysmorphic features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:33:34.446002+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10552",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: None; Publications: 34415310; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531, Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:32:04.070902+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4417",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: PRDM13 as Amber List (moderate evidence)",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:32:04.066456+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4417",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Potential founder variant?",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:32:04.045157+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4417",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: prdm13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:31:14.623929+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4416",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag founder was removed from gene: PRDM13.",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:30:53.745150+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4416",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: PRDM13 was added\ngene: PRDM13 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nfounder tags were added to gene: PRDM13.\nMode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRDM13 were set to 34730112\nPhenotypes for gene: PRDM13 were set to intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia\nReview for gene: PRDM13 was set to AMBER\nAdded comment: Recessive disease causing ID and DSD described in three supposedly unrelated families (2 consanguine), but all are from Malta, and all share the same 13bp deletion spanning an exon-intron boundary. Mouse KO is embryonically lethal, and tissue specific KO failed to replicate many of the patients phenotypes, other than hypoplasia of the cerebellar vermis and hemispheres at P21. \nSources: Literature",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:22:41.893116+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10552",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 34890546, 22503633, 23418020, 28288023, 28724397, 26216056, 26968735; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, Retinitis pigmentosa 80, MIM# 617781, Cystic Kidney Disease, MONDO# 0002473; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:20:25.753350+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10552",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: SLC35F1 was added\ngene: SLC35F1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC35F1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SLC35F1 were set to 33821533\nPhenotypes for gene: SLC35F1 were set to Rett-like syndrome\nPenetrance for gene: SLC35F1 were set to unknown\nReview for gene: SLC35F1 was set to RED\ngene: SLC35F1 was marked as current diagnostic\nAdded comment: WES found a de novo heterozygous c.1037T>C; p.(I346T) (absent in gnomad v2 and v3) in a female described to have Rett-like syndrome.\r\n\r\nGlobal developmental delay, generalized tonic andtonic–clonic seizure, never acquired independent walking and developed spastictetraplegia in adulthood and limited speech\r\n\r\nno protein functional work was performed \nSources: Literature",
"entity_name": "SLC35F1",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:18:39.446931+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10552",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:18:19.647098+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10552",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: CRACR2A was added\ngene: CRACR2A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CRACR2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRACR2A were set to PMID:34908525\nPhenotypes for gene: CRACR2A were set to Late onset combined immunodeficiency\nReview for gene: CRACR2A was set to AMBER\nAdded comment: PMID:34908525 - one patient compound het (missense and PTC) with late onset combined immunodeficiency (current chest infections, panhypogammaglobulinemia and CD4+T cell lymphopenia). Functional studies showed defective JNK phosphorylation, defective SOCE and impaired cytokine production.\r\n\r\nFurther search did not identify any additional publications. \nSources: Literature",
"entity_name": "CRACR2A",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:18:17.559006+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10552",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 34890546; Phenotypes: cystic Kidney Disease, MONDO# 0002473; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:13:43.633349+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.41",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: IFT140 was added\ngene: IFT140 was added to Renal Macrocystic Disease. Sources: Literature\nMode of inheritance for gene: IFT140 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IFT140 were set to 34890546\nPhenotypes for gene: IFT140 were set to Cystic Kidney Disease, MONDO# 0002473\nReview for gene: IFT140 was set to GREEN\nAdded comment: 12 unrelated families reported with monoallelic variants causing mild polycystic kidney disease with large cysts, limited kidney insufficiency, and few liver cysts. \nSources: Literature",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:11:02.930999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10552",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: MYH1 was added\ngene: MYH1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MYH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYH1 were set to 33755318\nPhenotypes for gene: MYH1 were set to recurrent rhabdomyolysis\nPenetrance for gene: MYH1 were set to unknown\nReview for gene: MYH1 was set to RED\ngene: MYH1 was marked as current diagnostic\nAdded comment: 18 yr old male from a consaguineous family.\r\nWES was performed and a homozygous c.1295A>C:p.K432T was found. Only 1 het in gnomad v2 and v3.\r\nno protein functional work was done \nSources: Literature",
"entity_name": "MYH1",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:08:24.690427+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAS as ready",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:08:24.679140+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1929",
"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": "2022-01-07T14:08:20.927878+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAS were changed from ALBRIGHT HEREDITARY OSTEODYSTROPHY; GNAS HYPERFUNCTION; PSEUDOHYPOPARATHYROIDISM TYPE 1B; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA to Pseudohypoparathyroidism Ia, MIM# 103580",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:08:03.393929+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAS were set to ",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2022-01-07T14:07:47.764688+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2022-01-07T11:46:07.571960+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoparathyroidism Ia, MIM# 103580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2022-01-07T11:43:43.378647+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAO1 were changed from Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements to Epileptic encephalopathy, early infantile, 17, MIM#615473; Neurodevelopmental disorder with involuntary movements, MIM# 617493",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2022-01-07T11:43:14.672109+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAO1 as ready",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2022-01-07T11:43:14.661755+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnao1 has been classified as Green List (High Evidence).",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2022-01-07T11:43:10.691924+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAO1 were changed from EPILEPTIC ENCEPHALOPATHY to Epileptic encephalopathy, early infantile, 17, MIM#615473; Neurodevelopmental disorder with involuntary movements, MIM# 617493",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2022-01-07T11:42:56.446745+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAO1 were set to ",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2022-01-07T11:42:37.812964+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNAO1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2022-01-07T11:42:26.638492+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Loss of function mutations (PTCs and missense) cause EEIE, and gain of function mutations (missense, inframe deletion) cause NDIM. Almost all reports are de novo, rare parental mosaicism also reported (PMID: 30682224); to: Loss of function mutations (PTCs and missense) cause EEIE, and gain of function mutations (missense, inframe deletion) cause NDIM. Almost all reports are de novo, rare parental mosaicism also reported (PMID: 30682224)\r\n\r\nMicrocephaly reported in some individuals.",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2022-01-07T11:42:12.164025+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GNAO1: Changed phenotypes: Epileptic encephalopathy, early infantile, 17, MIM#615473, Neurodevelopmental disorder with involuntary movements, MIM# 617493",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2022-01-07T11:20:21.270111+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAK2 as ready",
"entity_name": "PAK2",
"entity_type": "gene"
},
{
"created": "2022-01-07T11:20:21.258912+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pak2 has been classified as Red List (Low Evidence).",
"entity_name": "PAK2",
"entity_type": "gene"
},
{
"created": "2022-01-07T11:19:29.363712+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAK2 as Red List (low evidence)",
"entity_name": "PAK2",
"entity_type": "gene"
},
{
"created": "2022-01-07T11:19:29.354612+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pak2 has been classified as Red List (Low Evidence).",
"entity_name": "PAK2",
"entity_type": "gene"
},
{
"created": "2022-01-06T21:32:24.980363+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10550",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: PAK2 was added\ngene: PAK2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PAK2 were set to 33693784\nPhenotypes for gene: PAK2 were set to Knobloch 2 syndrome\nReview for gene: PAK2 was set to RED\nAdded comment: Antonarakis et al., 2021 (PMID: 33693784) reported two affected siblings from a non-consanguineous New Zealand family. Both had retinal detachment and interstitial parenchymal pulmonary changes on chest X-rays, but only one child had additional significant features such as cataract, posterior encephalocele, severe DD/ID with ASD, and epilepsy. WES revealed a heterozygous PAK2 variant (c.1303 G>A, p.Glu435Lys) in both individuals that apparently occurred de novo indicating parental germ-line mosaicism; however, mosaicism could not be detected by deep sequencing of blood parental DNA. Functional studies showed that the variant, located in the kinase domain, results in a partial loss of the kinase activity. \nSources: Literature",
"entity_name": "PAK2",
"entity_type": "gene"
},
{
"created": "2022-01-06T19:10:53.069047+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OGDH were changed from Developmental delay; ataxia; seizure; raised lactate to Oxoglutarate dehydrogenase deficiency, MIM# 203740; Developmental delay; ataxia; seizure; raised lactate",
"entity_name": "OGDH",
"entity_type": "gene"
},
{
"created": "2022-01-06T19:10:11.937199+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OGDH: Changed phenotypes: Oxoglutarate dehydrogenase deficiency, MIM# 203740, Developmental delay, ataxia, seizure, raised lactate",
"entity_name": "OGDH",
"entity_type": "gene"
},
{
"created": "2022-01-06T19:09:54.839112+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OGDH were changed from Developmental delay; ataxia; seizure; raised lactate to Oxoglutarate dehydrogenase deficiency, MIM# 203740; Developmental delay; ataxia; seizure; raised lactate",
"entity_name": "OGDH",
"entity_type": "gene"
},
{
"created": "2022-01-06T19:09:27.813777+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OGDH: Changed phenotypes: Oxoglutarate dehydrogenase deficiency, MIM# 203740, Developmental delay, ataxia, seizure, raised lactate",
"entity_name": "OGDH",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:37:11.655031+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GMPPB as ready",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:37:11.644262+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmppb has been classified as Green List (High Evidence).",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:37:07.828996+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GMPPB were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:36:51.208912+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, severe end of the spectrum can present with congenital anomalies.",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:36:36.603767+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GMPPB: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:35:58.450838+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLIS3 as ready",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:35:58.441379+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glis3 has been classified as Green List (High Evidence).",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:35:53.791936+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLIS3 were changed from DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:35:38.211998+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLIS3 were set to ",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:35:25.878566+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Significant proportion of affected children described as having developmental delay.; to: Renal cystic dysplasia is a feature.",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:34:28.083896+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLI3 as ready",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:34:28.067345+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli3 has been classified as Green List (High Evidence).",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:34:23.916392+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; PALLISTER-HALL SYNDROME; POSTAXIAL POLYDACTYLY TYPE A; PREAXIAL POLYDACTYLY TYPE IV to Greig cephalopolysyndactyly syndrome, MIM# 175700; Polydactyly",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:34:08.074589+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:33:55.357435+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Not a ciliopathy, but relatively common condition with phenotypic overlap. \nSources: Expert list; to: Limb anomalies would be identifiable prenatally.\r\nSources: Expert list",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:33:11.174597+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLE1 as ready",
"entity_name": "GLE1",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:33:11.157094+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gle1 has been classified as Green List (High Evidence).",
"entity_name": "GLE1",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:33:07.013353+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLE1 were changed from ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE to Lethal congenital contracture syndrome 1, MIM# 253310",
"entity_name": "GLE1",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:32:54.477932+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLE1 were set to ",
"entity_name": "GLE1",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:32:15.601459+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLDN as ready",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:32:15.591368+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gldn has been classified as Green List (High Evidence).",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:32:11.670312+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLDN were changed from Lethal arthroogryposis to Lethal congenital contracture syndrome 11, MIM# 617194; MONDO:0014965",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:32:00.838255+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLDN were set to ",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:31:29.314593+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GJA8 as ready",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:31:29.303280+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gja8 has been classified as Green List (High Evidence).",
"entity_name": "GJA8",
"entity_type": "gene"
}
]
}