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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=608",
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"results": [
{
"created": "2023-05-04T12:32:04.749340+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc30a9 has been classified as Green List (High Evidence).",
"entity_name": "SLC30A9",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:31:21.683344+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC30A9 as Green List (high evidence)",
"entity_name": "SLC30A9",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:31:21.648432+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc30a9 has been classified as Green List (High Evidence).",
"entity_name": "SLC30A9",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:31:15.860621+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.353",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DNA2 was added\ngene: DNA2 was added to Cataract. Sources: Literature\nMode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNA2 were set to 37133451\nPhenotypes for gene: DNA2 were set to Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated\nReview for gene: DNA2 was set to AMBER\nAdded comment: A phenotypic expansion has been proposed based on a cohort of six Brazilian probands that in addition to classic RTS also presented with poikiloderma and congenital cataracts. All shared the same deep intronic splice variant, c.588–2214 A>G, in trans with other LoF variants. The deep intronic variant has been shown to result in the inclusion of a cryptic exon in the mature RNA, resulting in a frame shift and premature termination codon. The authors speculate that the shared intronic variant, which they attribute to a founder effect, has residual normal splicing responsible for the phenotypic variation. \nSources: Literature",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:31:07.589371+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC30A9 as ready",
"entity_name": "SLC30A9",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:31:07.574226+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc30a9 has been classified as Green List (High Evidence).",
"entity_name": "SLC30A9",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:30:55.798930+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.834",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "gene: GPR156 was added\ngene: GPR156 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GPR156 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPR156 were set to PMID: 36928819\nPhenotypes for gene: GPR156 were set to Sensorineural hearing loss, MONDO:60700002, GPR156-related\nReview for gene: GPR156 was set to GREEN\nAdded comment: Eight affected individuals from three unrelated families with congenital nonsyndromic bilateral sensorineural hearing loss. Homozygous or compound heterozygous loss of function variants were reported in these families. \nSources: Literature",
"entity_name": "GPR156",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:30:53.355709+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.12",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: MCAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 33918393, 31915829; Phenotypes: Progressive autosomal recessive optic neuropathy, Leber hereditary optic neuropathy (LHON)-like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCAT",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:29:45.281752+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC30A9 as Green List (high evidence)",
"entity_name": "SLC30A9",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:29:45.269069+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc30a9 has been classified as Green List (High Evidence).",
"entity_name": "SLC30A9",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:29:26.511173+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC30A9 as Green List (high evidence)",
"entity_name": "SLC30A9",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:29:26.486368+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc30a9 has been classified as Green List (High Evidence).",
"entity_name": "SLC30A9",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:29:24.289129+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.353",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DNA2 was added\ngene: DNA2 was added to Cataract. Sources: Literature\ndeep intronic, founder tags were added to gene: DNA2.\nMode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNA2 were set to 37133451\nPhenotypes for gene: DNA2 were set to Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated\nReview for gene: DNA2 was set to AMBER\nAdded comment: A phenotypic expansion has been proposed based on a cohort of six Brazilian probands that in addition to classic RTS also presented with poikiloderma and congenital cataracts. All shared the same deep intronic splice variant, c.588–2214 A>G, in trans with other LoF variants. The deep intronic variant has been shown to result in the inclusion of a cryptic exon in the mature RNA, resulting in a frame shift and premature termination codon. The authors speculate that the shared intronic variant, which they attribute to a founder effect, has residual normal splicing responsible for the phenotypic variation. \nSources: Literature",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:29:11.263477+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.280",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: POLR1A was added\ngene: POLR1A was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: POLR1A were set to PMID: 37075751\nPhenotypes for gene: POLR1A were set to Acrofacial dysostosis, Cincinnati type MIM#616462\nReview for gene: POLR1A was set to GREEN\nAdded comment: PMID: 37075751 - 8/21 patients had congenital heart disease (mostly septal defect, one patient had bicuspid aortic valve, aortic aneurysm). Het mouse model had heart defects including truncus arteriosus \nSources: Literature",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:29:00.657871+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.834",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "changed review comment from: AR \r\n3 unrelated individuals, confirmed variants in trans\r\nFunctional studies on patient fibroblasts\r\nMultisystem disease, variable onset \r\n2x infants with a clinical diagnosis of Leigh syndrome (MIM 256000)\r\nAdult with hypertrophic cardiomyopathy, lactic acidosis, ADHD \nSources: Literature; to: AR \r\n3 unrelated individuals, confirmed variants in trans\r\nFunctional studies on patient fibroblasts\r\nMultisystem disease, variable onset \r\n2x infants with a clinical diagnosis of Leigh syndrome (congestive cardiac\r\nfailure, increased lactates, seizures, apnea, poor feeding, and global developmental delay, leading\r\nto early death (< 1 year of age))\r\nAdult with hypertrophic cardiomyopathy, lactic acidosis, ADHD \r\nSources: Literature",
"entity_name": "MRPL39",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:28:55.339772+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.834",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "reviewed gene: DPP9: Rating: GREEN; Mode of pathogenicity: None; Publications: 36112693; Phenotypes: Hatipoglu immunodeficiency syndrome MIM#620331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPP9",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:26:56.579421+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.280",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: POLR1A was added\ngene: POLR1A was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: POLR1A were set to PMID: 37075751\nPhenotypes for gene: POLR1A were set to Acrofacial dysostosis, Cincinnati type MIM#616462\nReview for gene: POLR1A was set to GREEN\nAdded comment: PMID: 37075751 - 8/21 patients had congenital heart disease (mostly septal defect, one patient had bicuspid aortic valve, aortic aneurysm). Het mouse model had heart defects including truncus arteriosus \nSources: Literature",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:26:43.587635+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.834",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: MRPL39 was added\ngene: MRPL39 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MRPL39 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPL39 were set to PMID: 37133451\nPhenotypes for gene: MRPL39 were set to Leigh syndrome MONDO:0009723\nAdded comment: AR \r\n3 unrelated individuals, confirmed variants in trans\r\nFunctional studies on patient fibroblasts\r\nMultisystem disease, variable onset \r\n2x infants with a clinical diagnosis of Leigh syndrome (MIM 256000)\r\nAdult with hypertrophic cardiomyopathy, lactic acidosis, ADHD \nSources: Literature",
"entity_name": "MRPL39",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:26:37.891446+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.834",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: INTS11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37054711; Phenotypes: Global developmental delay, launguage delay, intellectual disability, impaired motor development, brain atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INTS11",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:26:23.997313+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.4",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "reviewed gene: DPP9: Rating: GREEN; Mode of pathogenicity: None; Publications: 36112693; Phenotypes: Hatipoglu immunodeficiency syndrome MIM#620331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPP9",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:26:15.898940+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.222",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: SLC30A9 was added\ngene: SLC30A9 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: SLC30A9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC30A9 were set to 37041080\nPhenotypes for gene: SLC30A9 were set to Birk-Landau-Perez syndrome\t(MIM#617595)\nReview for gene: SLC30A9 was set to GREEN\nAdded comment: PMID:37041080 - 2 families previously reported and this paper describes 4 more with biallelic SLC30A9 variants. Original 2 families: 6 affected members all hom for Ala350del, and 1 affected member chet for 2 frameshifts. 4 families from this paper: 2 families have the same homozygous missense (Gly418Val), family 3 has 4 affected sibs hom for Ala350del, family 4 1 affected chet for a frameshift and a synonymous. So 2 fams homs for Ala350del and 2 fams hom for Gly418Val.\r\nAll have Brik-Landau-Perez syndrome: all with ID, movement disorder and dystonia, and many with oculomotor apraxia, renal abnormalitie, ptosis, some had hearing impairment. \nSources: Literature",
"entity_name": "SLC30A9",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:25:03.922510+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.196",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: POLR1A as ready",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:25:03.910274+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.196",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: polr1a has been classified as Green List (High Evidence).",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:25:02.008598+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.55",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: POLR1A as ready",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:25:01.928319+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.55",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: polr1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:24:59.861563+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.55",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: POLR1A as Amber List (moderate evidence)",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:24:59.853161+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.55",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: polr1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:24:58.651671+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.196",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: POLR1A were changed from cleft palte to Acrofacial dysostosis, Cincinnati type MIM#616462",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:24:51.615233+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.195",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: POLR1A as Green List (high evidence)",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:24:51.602531+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.195",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: polr1a has been classified as Green List (High Evidence).",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:24:33.518426+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.194",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37075751; Phenotypes: Acrofacial dysostosis, Cincinnati type MIM#616462; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:24:12.031010+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.834",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: ERG were set to ",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:23:57.765096+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.54",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: POLR1A was added\ngene: POLR1A was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: POLR1A were set to PMID: 37075751\nPhenotypes for gene: POLR1A were set to Acrofacial dysostosis, Cincinnati type MIM#616462\nReview for gene: POLR1A was set to AMBER\nAdded comment: PMID: 37075751 - craniosynostosis shown in 3/21 patients \nSources: Literature",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:23:19.761758+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATAD2A as ready",
"entity_name": "GATAD2A",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:23:19.749730+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gatad2a has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATAD2A",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:23:12.583168+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GATAD2A as Amber List (moderate evidence)",
"entity_name": "GATAD2A",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:23:12.562100+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gatad2a has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATAD2A",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:22:33.618858+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.833",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: ERG were changed from to primary lymphoedema MONDO#0019175, ERG-related",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:22:18.368041+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.832",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:22:12.435002+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.832",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: ERG as Green List (high evidence)",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:22:12.420852+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.832",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: erg has been classified as Green List (High Evidence).",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:21:33.218435+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.831",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ERG: Rating: GREEN; Mode of pathogenicity: None; Publications: 36928819; Phenotypes: primary lymphoedema MONDO#0019175, ERG-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:20:22.244538+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATAD2A was added\ngene: GATAD2A was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: GATAD2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GATAD2A were set to https://doi.org/10.1016/j.xhgg.2023.100198; 17565372\nPhenotypes for gene: GATAD2A were set to Neurodevelopmental disorder, MONDO:0700092, GATAD2A-related\nReview for gene: GATAD2A was set to AMBER\nAdded comment: Inconsistent pattern of congenital abnormalities.\r\n\r\nhttps://doi.org/10.1016/j.xhgg.2023.100198 - Five unrelated individuals with a neurodevelopmental disorder identified with 3 missense & 2 LoF (4 de novo & 1 unknown inheritance). The shared clinical features with variable expressivity include global developmental delay (4/4), craniofacial dysmorphism (3/5), structural brain defects (2/3), musculoskeletal anomalies (3/5), vision/hearing defects (2/3), gastrointestinal/renal defects (2/3). Loss of function is the expected mechanism of disease. In vitro assays of one of the missense variants (p.Cys420Tyr) demonstrates disruption of GATAD2A integration with CHD3, CHD4, and CHD5\r\nPMID: 17565372 - null mouse model is embryonic lethal. \nSources: Literature",
"entity_name": "GATAD2A",
"entity_type": "gene"
},
{
"created": "2023-05-04T12:20:15.797414+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5215",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: SLC30A9 was added\ngene: SLC30A9 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SLC30A9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC30A9 were set to 37041080\nPhenotypes for gene: SLC30A9 were set to Birk-Landau-Perez syndrome\t(MIM#617595)\nReview for gene: SLC30A9 was set to GREEN\nAdded comment: PMID:37041080 - 2 families previously reported and this paper describes 4 more with biallelic SLC30A9 variants. Original 2 families: 6 affected members all hom for Ala350del, and 1 affected member chet for 2 frameshifts. 4 families from this paper: 2 families have the same homozygous missense (Gly418Val), family 3 has 4 affected sibs hom for Ala350del, family 4 1 affected chet for a frameshift and a synonymous. So 2 fams homs for Ala350del and 2 fams hom for Gly418Val.\r\nAll have Brik-Landau-Perez syndrome: all with ID, movement disorder and dystonia, and many with oculomotor apraxia, renal abnormalitie, ptosis, some had hearing impairment. \nSources: Literature",
"entity_name": "SLC30A9",
"entity_type": "gene"
},
{
"created": "2023-05-04T11:40:05.567911+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5215",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GATAD2A as ready",
"entity_name": "GATAD2A",
"entity_type": "gene"
},
{
"created": "2023-05-04T11:40:05.549750+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5215",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gatad2a has been classified as Green List (High Evidence).",
"entity_name": "GATAD2A",
"entity_type": "gene"
},
{
"created": "2023-05-04T11:39:23.797668+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5215",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GATAD2A as Green List (high evidence)",
"entity_name": "GATAD2A",
"entity_type": "gene"
},
{
"created": "2023-05-04T11:39:23.785946+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5215",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gatad2a has been classified as Green List (High Evidence).",
"entity_name": "GATAD2A",
"entity_type": "gene"
},
{
"created": "2023-05-04T11:37:18.689833+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GATAD2A was added\ngene: GATAD2A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GATAD2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GATAD2A were set to https://doi.org/10.1016/j.xhgg.2023.100198; 17565372\nPhenotypes for gene: GATAD2A were set to Neurodevelopmental disorder, MONDO:0700092, GATAD2A-related\nReview for gene: GATAD2A was set to GREEN\nAdded comment: https://doi.org/10.1016/j.xhgg.2023.100198 - Five unrelated individuals with a neurodevelopmental disorder identified with 3 missense & 2 LoF (4 de novo & 1 unknown inheritance). The shared clinical features with variable expressivity include global developmental delay (4/4), craniofacial dysmorphism (3/5), structural brain defects (2/3), musculoskeletal anomalies (3/5), vision/hearing defects (2/3), gastrointestinal/renal defects (2/3). Loss of function is the expected mechanism of disease. In vitro assays of one of the missense variants (p.Cys420Tyr) demonstrates disruption of GATAD2A integration with CHD3, CHD4, and CHD5\r\nPMID: 17565372 - null mouse model is embryonic lethal. \nSources: Literature",
"entity_name": "GATAD2A",
"entity_type": "gene"
},
{
"created": "2023-05-04T11:34:18.644805+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.831",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GATAD2A as ready",
"entity_name": "GATAD2A",
"entity_type": "gene"
},
{
"created": "2023-05-04T11:34:18.633832+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.831",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gatad2a has been classified as Green List (High Evidence).",
"entity_name": "GATAD2A",
"entity_type": "gene"
},
{
"created": "2023-05-04T11:34:09.285111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.831",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GATAD2A as Green List (high evidence)",
"entity_name": "GATAD2A",
"entity_type": "gene"
},
{
"created": "2023-05-04T11:34:09.274625+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.831",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gatad2a has been classified as Green List (High Evidence).",
"entity_name": "GATAD2A",
"entity_type": "gene"
},
{
"created": "2023-05-04T11:33:49.888724+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.830",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GATAD2A was added\ngene: GATAD2A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GATAD2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GATAD2A were set to https://doi.org/10.1016/j.xhgg.2023.100198; 17565372\nPhenotypes for gene: GATAD2A were set to Neurodevelopmental disorder, MONDO:0700092, GATAD2A-related\nReview for gene: GATAD2A was set to GREEN\nAdded comment: https://doi.org/10.1016/j.xhgg.2023.100198 - Five unrelated individuals with a neurodevelopmental disorder identified with 3 missense & 2 LoF (4 de novo & 1 unknown inheritance). The shared clinical features with variable expressivity include global developmental delay (4/4), craniofacial dysmorphism (3/5), structural brain defects (2/3), musculoskeletal anomalies (3/5), vision/hearing defects (2/3), gastrointestinal/renal defects (2/3). Loss of function is the expected mechanism of disease. In vitro assays of one of the missense variants (p.Cys420Tyr) demonstrates disruption of GATAD2A integration with CHD3, CHD4, and CHD5\r\nPMID: 17565372 - null mouse model is embryonic lethal. \nSources: Literature",
"entity_name": "GATAD2A",
"entity_type": "gene"
},
{
"created": "2023-05-04T10:19:30.612687+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.829",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: RNF212B were set to https://doi.org/10.1016/j.xhgg.2023.100189",
"entity_name": "RNF212B",
"entity_type": "gene"
},
{
"created": "2023-05-04T02:21:36.788956+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.76",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: TRPM6 was added\ngene: TRPM6 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRPM6 were set to 22982920\nPhenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal, MIM# 602014\nReview for gene: TRPM6 was set to RED\nAdded comment: Insufficient evidence supports the gene-disease association.\r\nPMID 22982920 reports a patient with a novel homozygous variant (ins 2999T) of the TRPM6 gene who had bilateral basal ganglia calcification. The authors state that brain calcification has never been reported in hypomagnesemia patients before. \nSources: Expert list",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2023-05-04T02:02:34.227014+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.76",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34949589, 26581299, 29386495; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2023-05-04T01:26:41.840399+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.76",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "reviewed gene: TREM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33969597, 35705056; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2023-05-03T20:08:13.040208+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIG4 as ready",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2023-05-03T20:08:13.026587+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig4 has been classified as Green List (High Evidence).",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2023-05-03T20:08:09.345139+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIG4 were changed from Immune dysregulation to LIG4 syndrome, MIM#\t606593; Immune dysregulation",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2023-05-03T20:07:24.093301+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LIG4 as Green List (high evidence)",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2023-05-03T20:07:24.083539+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig4 has been classified as Green List (High Evidence).",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2023-05-03T20:06:12.199429+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM5A as ready",
"entity_name": "KDM5A",
"entity_type": "gene"
},
{
"created": "2023-05-03T20:06:12.186874+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm5a has been classified as Green List (High Evidence).",
"entity_name": "KDM5A",
"entity_type": "gene"
},
{
"created": "2023-05-03T20:05:55.540186+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDM5A as Green List (high evidence)",
"entity_name": "KDM5A",
"entity_type": "gene"
},
{
"created": "2023-05-03T20:05:55.528338+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm5a has been classified as Green List (High Evidence).",
"entity_name": "KDM5A",
"entity_type": "gene"
},
{
"created": "2023-05-03T20:05:06.478702+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDM5A was added\ngene: KDM5A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: KDM5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: KDM5A were set to 21937992; 33350388\nPhenotypes for gene: KDM5A were set to Neurodevelopmental disorder MONDO:0700092, KDM5A-related\nReview for gene: KDM5A was set to GREEN\nAdded comment: PMID:21937992 reported a family with recessive missense KDM5A variant presenting with an undefined developmental disorder characterised with intellectual disability and facial dysmorphisms.\r\n\r\nPMID:33350388 reported nine patients from seven unrelated families identified with variants in KDM5A, of which three unrelated patients harboured heterozygous variants, while six patients from four unrelated families had homozygous variants. These patients presented with autism spectrum disorder (ASD) and a spectrum of neurodevelopmental phenotypes including intellectual disability, lack of speech, developmental delay and motor impairment.\r\n\r\nIn addition, loss of KDM5A has resulted in repetitive behaviors, sociability deficits, cognitive dysfunction, and abnormal dendritic morphogenesis in mice.\r\n\r\nThis gene has already been associated with phenotype in Gene2Phenotype (biallelic inheritance with 'limited' rating), but not in OMIM. \nSources: Literature",
"entity_name": "KDM5A",
"entity_type": "gene"
},
{
"created": "2023-05-03T20:03:52.199504+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM5A as ready",
"entity_name": "KDM5A",
"entity_type": "gene"
},
{
"created": "2023-05-03T20:03:52.184813+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm5a has been classified as Green List (High Evidence).",
"entity_name": "KDM5A",
"entity_type": "gene"
},
{
"created": "2023-05-03T20:02:16.948320+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDM5A as Green List (high evidence)",
"entity_name": "KDM5A",
"entity_type": "gene"
},
{
"created": "2023-05-03T20:02:16.934017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm5a has been classified as Green List (High Evidence).",
"entity_name": "KDM5A",
"entity_type": "gene"
},
{
"created": "2023-05-03T20:00:20.542300+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCL11B as ready",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2023-05-03T20:00:20.530115+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcl11b has been classified as Green List (High Evidence).",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2023-05-03T20:00:16.906585+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCL11B were changed from Craniosynostosis to Craniosynostosis, MONDO:0015469, BCL11B-related",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2023-05-03T19:59:28.720397+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCL11B as Green List (high evidence)",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2023-05-03T19:59:28.712883+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcl11b has been classified as Green List (High Evidence).",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2023-05-03T19:28:45.841533+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFIA as ready",
"entity_name": "NFIA",
"entity_type": "gene"
},
{
"created": "2023-05-03T19:28:45.817857+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfia has been classified as Green List (High Evidence).",
"entity_name": "NFIA",
"entity_type": "gene"
},
{
"created": "2023-05-03T18:58:35.456887+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NFIA were changed from Craniosynostosis to Craniosynostosis MONDO:0015469, NFIA-related",
"entity_name": "NFIA",
"entity_type": "gene"
},
{
"created": "2023-05-03T18:58:06.626385+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFIA as Green List (high evidence)",
"entity_name": "NFIA",
"entity_type": "gene"
},
{
"created": "2023-05-03T18:58:06.616876+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfia has been classified as Green List (High Evidence).",
"entity_name": "NFIA",
"entity_type": "gene"
},
{
"created": "2023-05-03T18:57:38.924990+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis MONDO:0015469, NFIA-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFIA",
"entity_type": "gene"
},
{
"created": "2023-05-03T18:56:37.134514+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRRX1 as ready",
"entity_name": "PRRX1",
"entity_type": "gene"
},
{
"created": "2023-05-03T18:56:37.122163+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prrx1 has been classified as Green List (High Evidence).",
"entity_name": "PRRX1",
"entity_type": "gene"
},
{
"created": "2023-05-03T18:56:34.275988+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRRX1 were changed from Craniosynostosis to Craniosynostosis, MONDO:0015469, PRRX1-related",
"entity_name": "PRRX1",
"entity_type": "gene"
},
{
"created": "2023-05-03T18:55:00.714999+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRRX1 as Green List (high evidence)",
"entity_name": "PRRX1",
"entity_type": "gene"
},
{
"created": "2023-05-03T18:55:00.706843+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prrx1 has been classified as Green List (High Evidence).",
"entity_name": "PRRX1",
"entity_type": "gene"
},
{
"created": "2023-05-03T18:26:23.122212+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YWHAE as ready",
"entity_name": "YWHAE",
"entity_type": "gene"
},
{
"created": "2023-05-03T18:26:23.114054+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ywhae has been classified as Green List (High Evidence).",
"entity_name": "YWHAE",
"entity_type": "gene"
},
{
"created": "2023-05-03T18:26:13.469394+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YWHAE as Green List (high evidence)",
"entity_name": "YWHAE",
"entity_type": "gene"
},
{
"created": "2023-05-03T18:26:13.454342+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ywhae has been classified as Green List (High Evidence).",
"entity_name": "YWHAE",
"entity_type": "gene"
},
{
"created": "2023-05-03T18:25:56.352006+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YWHAE was added\ngene: YWHAE was added to Mendeliome. Sources: Literature\nSV/CNV tags were added to gene: YWHAE.\nMode of inheritance for gene: YWHAE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: YWHAE were set to 36999555\nPhenotypes for gene: YWHAE were set to Neurodevelopmental disorder, MONDO:0700092\nReview for gene: YWHAE was set to GREEN\nAdded comment: PMID 36999555 reports 10 patients with YWHAE variants (1 intragenic deletion and 5 large deletions encompassing YWHEA but not PAFAH1B1) who have mild to severe intellectual disability. 3 individuals with SNVs. Mouse model supports gene-disease association. \nSources: Literature",
"entity_name": "YWHAE",
"entity_type": "gene"
},
{
"created": "2023-05-03T18:23:22.536147+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YWHAE as ready",
"entity_name": "YWHAE",
"entity_type": "gene"
},
{
"created": "2023-05-03T18:23:22.528384+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ywhae has been classified as Green List (High Evidence).",
"entity_name": "YWHAE",
"entity_type": "gene"
},
{
"created": "2023-05-03T18:23:14.901814+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YWHAE as Green List (high evidence)",
"entity_name": "YWHAE",
"entity_type": "gene"
},
{
"created": "2023-05-03T18:23:14.880073+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ywhae has been classified as Green List (High Evidence).",
"entity_name": "YWHAE",
"entity_type": "gene"
},
{
"created": "2023-05-03T18:22:20.974486+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YWHAE as ready",
"entity_name": "YWHAE",
"entity_type": "gene"
},
{
"created": "2023-05-03T18:22:20.964273+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ywhae has been classified as Green List (High Evidence).",
"entity_name": "YWHAE",
"entity_type": "gene"
},
{
"created": "2023-05-03T18:22:15.425482+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YWHAE as Green List (high evidence)",
"entity_name": "YWHAE",
"entity_type": "gene"
}
]
}