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{
"count": 220833,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=726",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=724",
"results": [
{
"created": "2022-10-06T14:29:04.061069+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.358",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: DAW1 as Green List (high evidence)",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:29:04.052574+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.358",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: daw1 has been classified as Green List (High Evidence).",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:28:53.561122+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4966",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: GCSH were changed from Glycine encephalopathy, MIM#605899 to Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:28:41.437033+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.210",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534211, 16790509, 29764427, 30808327, 24130771, 35419533; Phenotypes: Nephrotic syndrome, Alport syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:28:28.086541+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4966",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: GCSH were set to 1671321",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:28:12.087143+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4966",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: GCSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:28:02.080522+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.357",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: DAW1 was added\ngene: DAW1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DAW1 were set to 36074124\nPhenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677\nReview for gene: DAW1 was set to GREEN\nAdded comment: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype \nSources: Literature",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:27:57.960818+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4966",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:27:28.613916+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4966",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: GCSH as Green List (high evidence)",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:27:28.605193+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4966",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: gcsh has been classified as Green List (High Evidence).",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:27:24.215957+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.157",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:27:20.839796+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.157",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:26:20.974902+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.482",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: GCSH were set to 1671321; 36190515",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:26:05.728598+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4965",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 36190515; Phenotypes: Glycine encephalopathy MIM#605899, neurodevelopmental disorder MONDO#0700092, GCHS-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:26:04.429683+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.25",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: DAW1 as Green List (high evidence)",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:26:04.421951+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.25",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: daw1 has been classified as Green List (High Evidence).",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:26:03.156701+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.481",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: GCSH were set to 1671321",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:25:59.058176+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RABGAP1 as ready",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:25:59.045310+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rabgap1 has been classified as Green List (High Evidence).",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:25:44.454255+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.481",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: GCSH as Amber List (moderate evidence)",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:25:44.443818+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.481",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: gcsh has been classified as Amber List (Moderate Evidence).",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:25:38.569239+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.157",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: NAPB was added\ngene: NAPB was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAPB were set to 26235277; 28097321; 33189936\nPhenotypes for gene: NAPB were set to Developmental and epileptic encephalopathy 107 MIM#620033\nReview for gene: NAPB was set to GREEN\ngene: NAPB was marked as current diagnostic\nAdded comment: PMID 26235277: homozygous nonsense variant identified in a 6 year old girl by trio WES with early-onset epileptic encephalopathy characterised by multifocal seizures and profound GDD. Also noted to have progressive microcephaly (9th to <0.4th centile)\r\n\r\nPMID 28097321: exome sequencing in 152 consanguineous families with at least one member affected with ID. Homozygous nonsense variant identified in a patient with profound ID, seizures, feeding difficulties in infancy, muscularhypotonia, microcephaly, and impaired vision\r\n\r\nPMID 33189936: homozygous canonical splice variant identified by trio exome sequencing in two siblings with seizures, intellectual disability and global developmental delay, microcephaly (<-3SD), and muscular hypotonia. \nSources: Literature",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:25:28.128805+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RABGAP1 as Green List (high evidence)",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:25:28.119609+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rabgap1 has been classified as Green List (High Evidence).",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:25:24.821076+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.25",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: DAW1 as Green List (high evidence)",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:25:24.803756+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.25",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: daw1 has been classified as Green List (High Evidence).",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:24:54.183767+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RABGAP1 was added\ngene: RABGAP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RABGAP1 were set to 36083289\nPhenotypes for gene: RABGAP1 were set to Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092\nReview for gene: RABGAP1 was set to GREEN\nAdded comment: 5 individuals from three families reported with ID, microcephaly, SNHL and seizures. Mouse model recapitulated the phenotype. \nSources: Literature",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:24:50.319665+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.157",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: MTSS1 was added\ngene: MTSS1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: MTSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MTSS1 were set to PMID: 36067766\nPhenotypes for gene: MTSS1 were set to Intellectual disability, MTSS1-related (MONDO#0001071)\nReview for gene: MTSS1 was set to GREEN\nAdded comment: Alt gene name: MTSS2\r\n\r\nHuang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.\r\n- Individuals present with microcephaly or relative microcephaly (5/5)\r\n- Overexpression supports a DN mechanism \nSources: Literature",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:24:47.437957+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.480",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GCSH: Rating: AMBER; Mode of pathogenicity: None; Publications: 36190515; Phenotypes: Glycine encephalopathy MIM#605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:24:04.226255+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.354",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: NAPB was added\ngene: NAPB was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAPB were set to 26235277; 28097321; 33189936\nPhenotypes for gene: NAPB were set to Developmental and epileptic encephalopathy 107 MIM#620033\nReview for gene: NAPB was set to GREEN\ngene: NAPB was marked as current diagnostic\nAdded comment: PMID 26235277: homozygous nonsense variant identified in a 6 year old girl by trio WES with early-onset epileptic encephalopathy characterised by multifocal seizures and profound GDD\r\n\r\nPMID 28097321: exome sequencing in 152 consanguineous families with at least one member affected with ID. Homozygous nonsense variant identified in a patient with profound ID, seizures, feeding difficulties in infancy, muscularhypotonia, microcephaly, and impaired vision\r\n\r\nPMID 33189936: homozygous canonical splice variant identified by trio exome sequencing in two siblings with seizures, intellectual disability and global developmental delay, microcephaly (<-3SD), and muscular hypotonia. \nSources: Literature",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:23:59.971470+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.354",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: FKBP6 was added\ngene: FKBP6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FKBP6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FKBP6 were set to PMID: 36150389\nPhenotypes for gene: FKBP6 were set to Spermatogenic failure (MONDO:0004983), FKBP6-related\nReview for gene: FKBP6 was set to GREEN\nAdded comment: PMID: 36150389 - large cohort study of men with severe spermatogenic failure (SPGF), identified six individuals with rare bi-allelic loss of function variants in FKBP6. RT-qPCR and immunofluorescence confirmed lack of FKBP6 expression. In mice, Fkbp6 has also been shown to be essential for spermatogenesis. \nSources: Literature",
"entity_name": "FKBP6",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:23:32.132483+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.354",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: GCSH were changed from Glycine encephalopathy, MIM# 605899 to Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:23:15.920418+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4965",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: MTSS1 was added\ngene: MTSS1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MTSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MTSS1 were set to PMID: 36067766\nPhenotypes for gene: MTSS1 were set to Intellectual disability, MTSS1-related (MONDO#0001071)\nReview for gene: MTSS1 was set to GREEN\nAdded comment: Alt gene name: MTSS2\r\n\r\nHuang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.\r\n- Individuals present with GDD, mild ID (5/5), nystagmus (3/5), optic atrophy (1/5), ptosis (2/5), sensorineural hearing loss (2/4), microcephaly or relative microcephaly (5/5), and shared mild facial dysmorphisms.\r\n- Overexpression supports a DN mechanism \nSources: Literature",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:22:55.981801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.353",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: GCSH were set to 1671321",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:22:30.127687+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.352",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: GCSH: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:22:00.527017+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.24",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: DAW1 was added\ngene: DAW1 was added to Heterotaxy. Sources: Literature\nMode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DAW1 were set to 36074124\nPhenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677\nReview for gene: DAW1 was set to GREEN\nAdded comment: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype \nSources: Literature",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:21:35.053602+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.352",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: GCSH: Changed phenotypes: Glycine encephalopathy MIM#605899, neurodevelopmental disorder MONDO#0700092, GCHS-related",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:21:28.643705+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RABGAP1 as Green List (high evidence)",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:21:28.636189+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rabgap1 has been classified as Green List (High Evidence).",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:21:23.439241+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1675",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: NAPB was added\ngene: NAPB was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAPB were set to 26235277; 28097321; 33189936\nPhenotypes for gene: NAPB were set to Developmental and epileptic encephalopathy 107 MIM#620033\nReview for gene: NAPB was set to GREEN\ngene: NAPB was marked as current diagnostic\nAdded comment: PMID 26235277: homozygous nonsense variant identified in a 6 year old girl by trio WES with early-onset epileptic encephalopathy characterised by multifocal seizures and profound GDD\r\n\r\nPMID 28097321: exome sequencing in 152 consanguineous families with at least one member affected with ID. Homozygous nonsense variant identified in a patient with profound ID, seizures, feeding difficulties in infancy, muscularhypotonia, microcephaly, and impaired vision\r\n\r\nPMID 33189936: homozygous canonical splice variant identified by trio exome sequencing in two siblings with seizures, intellectual disability and global developmental delay, microcephaly (<-3SD), and muscular hypotonia. \nSources: Literature",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:21:18.942629+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.24",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: DAW1 was added\ngene: DAW1 was added to Heterotaxy. Sources: Literature\nMode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DAW1 were set to 36074124\nPhenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677\nReview for gene: DAW1 was set to GREEN\nAdded comment: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype \nSources: Literature",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:21:02.427656+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RABGAP1 as ready",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:21:02.417789+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rabgap1 has been classified as Green List (High Evidence).",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:20:44.183097+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.22",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: DAW1 as ready",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:20:44.120400+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.22",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: daw1 has been classified as Green List (High Evidence).",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:20:43.202622+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.352",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: GCSH as Green List (high evidence)",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:20:43.192650+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.352",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: gcsh has been classified as Green List (High Evidence).",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:20:40.853425+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RABGAP1 as Green List (high evidence)",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:20:40.844758+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rabgap1 has been classified as Green List (High Evidence).",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:20:30.744219+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.212",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: SLC13A1 was added\ngene: SLC13A1 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: SLC13A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC13A1 were set to 36175384\nPhenotypes for gene: SLC13A1 were set to sulfation-related bone disorder MONDO:0019688, SLC13A1-related\nReview for gene: SLC13A1 was set to RED\nAdded comment: PMID: 36175384- 1 patient with a homozygous nonsense variant in SLC13A1. Patient has enlargements of the joints, and spondylo-epi-metaphyseal radiological abnormalities in early childhood, which improved with age. Also autistic features and hyposulfatemia and hypersulfaturia, and reduced serum cholesterol sulfate. However the variant in this individual (Arg12Ter) has 569 hets and 1 hom in gnomad.\r\n\r\nAlso this patient was homozygous for CFTR Ala455Gly which is a known pathogenic variant associated with a less severe CF phenotype. \nSources: Literature",
"entity_name": "SLC13A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:20:22.610162+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4964",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: MTSS1L was added\ngene: MTSS1L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MTSS1L were set to PMID: 36067766\nPhenotypes for gene: MTSS1L were set to Intellectual disability, MTSS2-related (MONDO#0001071)\nReview for gene: MTSS1L was set to GREEN\nAdded comment: Alt gene name: MTSS2\r\n\r\nHuang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.\r\n- Individuals present with GDD, mild ID (5/5), nystagmus (3/5), optic atrophy (1/5), ptosis (2/5), sensorineural hearing loss (2/4), microcephaly or relative microcephaly (5/5), and shared mild facial dysmorphisms.\r\n- Overexpression supports a DN mechanism \nSources: Literature",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:19:53.722135+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4963",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: NAPB was added\ngene: NAPB was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAPB were set to 26235277; 28097321; 33189936\nPhenotypes for gene: NAPB were set to Developmental and epileptic encephalopathy 107 MIM#620033\nReview for gene: NAPB was set to GREEN\ngene: NAPB was marked as current diagnostic\nAdded comment: PMID 26235277: homozygous nonsense variant identified in a 6 year old girl by trio WES with early-onset epileptic encephalopathy characterised by multifocal seizures and profound GDD\r\n\r\nPMID 28097321: exome sequencing in 152 consanguineous families with at least one member affected with ID. Homozygous nonsense variant identified in a patient with profound ID, seizures, feeding difficulties in infancy, muscularhypotonia, microcephaly, and impaired vision\r\n\r\nPMID 33189936: homozygous canonical splice variant identified by trio exome sequencing in two siblings with seizures, intellectual disability and global developmental delay, microcephaly (<-3SD), and muscular hypotonia. \nSources: Literature",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:19:53.327386+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.351",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 36190515; Phenotypes: glycine encephalopathy MONDO#0011612, GCSH-related, neurodevelopmental disorder MONDO#0700092, GCHS-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:19:38.879511+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RABGAP1 was added\ngene: RABGAP1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RABGAP1 were set to 36083289\nPhenotypes for gene: RABGAP1 were set to Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092\nReview for gene: RABGAP1 was set to GREEN\nAdded comment: 5 individuals from three families reported with ID, microcephaly, SNHL and seizures. Mouse model recapitulated the phenotype. \nSources: Literature",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:19:11.761593+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RABGAP1 as ready",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:19:11.748255+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rabgap1 has been classified as Green List (High Evidence).",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:19:07.123744+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RABGAP1 as Green List (high evidence)",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:19:07.116268+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rabgap1 has been classified as Green List (High Evidence).",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:18:57.301865+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.22",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: DAW1 as Green List (high evidence)",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:18:57.293260+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.22",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: daw1 has been classified as Green List (High Evidence).",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:18:22.881734+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RABGAP1 was added\ngene: RABGAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RABGAP1 were set to 36083289\nPhenotypes for gene: RABGAP1 were set to Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092\nReview for gene: RABGAP1 was set to GREEN\nAdded comment: 5 individuals from three families reported with ID, microcephaly, SNHL and seizures. Mouse model recapitulated the phenotype. \nSources: Literature",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:18:21.074916+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.21",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "changed review comment from: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterodoxy phenotype \nSources: Literature; to: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype \r\nSources: Literature",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:17:40.944301+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.21",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: DAW1 was added\ngene: DAW1 was added to Ciliary Dyskinesia. Sources: Literature\nMode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DAW1 were set to 36074124\nPhenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677\nReview for gene: DAW1 was set to GREEN\nAdded comment: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterodoxy phenotype \nSources: Literature",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:14:07.421747+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NSD2 were changed from Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability to Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability; Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:13:28.167455+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NSD2 were set to 30345613; 31171569",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:12:54.393109+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NSD2: Added comment: PMID 36189577: two individuals reported with a GoF variant, p.Glu1099Lys, and a distinct phenotype: intellectual disability, coarse/ square facial gestalt, abnormalities of the hands, and organomegaly.; Changed publications: 30345613, 31171569, 36189577; Changed phenotypes: Rauch-Steindl syndrome, MIM# 619695, Microcephaly, intellectual disability, Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:12:07.565925+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NSD2 were set to 30345613; 31171569",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:11:45.541207+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NSD2: Changed publications: 36189577",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:10:55.065344+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NSD2 were changed from Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability to Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability; Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:10:29.930085+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NSD2 were set to 30345613; 31171569",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:10:09.264882+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NSD2: Added comment: PMID 36189577: two individuals reported with a GoF variant, p.Glu1099Lys, and a distinct phenotype: intellectual disability, coarse/ square facial gestalt, abnormalities of the hands, and organomegaly.; Changed phenotypes: Rauch-Steindl syndrome, MIM# 619695, Microcephaly, intellectual disability, Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:02:57.699843+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.348",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: FOSL2 was added\ngene: FOSL2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOSL2 were set to 36197437\nPhenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related\nReview for gene: FOSL2 was set to GREEN\nAdded comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies). \r\n\r\nIn 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism. \r\n\r\nClinical features included:\r\n- Cutis aplasia congenital of the scalp (10/11)\r\n- Tooth enamel hypoplasia and discolouration (8/9)\r\n- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis\r\n- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)\r\n- 6/9 IUGR\r\n- 5/9 postnatal growth restriction\r\n- 7/9 developmental delay/ID\r\n- 5/7 ADHD/ASD\r\n- 2/9 seizures \nSources: Literature",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:02:41.997902+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.44",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: FOSL2 was added\ngene: FOSL2 was added to Growth failure. Sources: Literature\nMode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOSL2 were set to 36197437\nPhenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related\nReview for gene: FOSL2 was set to GREEN\nAdded comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies). \r\n\r\nIn 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism. \r\n\r\nClinical features included:\r\n- Cutis aplasia congenital of the scalp (10/11)\r\n- Tooth enamel hypoplasia and discolouration (8/9)\r\n- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis\r\n- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)\r\n- 6/9 IUGR\r\n- 5/9 postnatal growth restriction\r\n- 7/9 developmental delay/ID\r\n- 5/7 ADHD/ASD\r\n- 2/9 seizures \nSources: Literature",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:02:09.941362+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPHP1 as ready",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:02:09.929190+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphp1 has been classified as Red List (Low Evidence).",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:01:56.312095+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.345",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: FOSL2 was added\ngene: FOSL2 was added to Cataract. Sources: Literature\nMode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOSL2 were set to 36197437\nPhenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related\nReview for gene: FOSL2 was set to GREEN\nAdded comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies). \r\n\r\nIn 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism. \r\n\r\nClinical features included:\r\n- Cutis aplasia congenital of the scalp (10/11)\r\n- Tooth enamel hypoplasia and discolouration (8/9)\r\n- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis\r\n- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)\r\n- 6/9 IUGR\r\n- 5/9 postnatal growth restriction\r\n- 7/9 developmental delay/ID\r\n- 5/7 ADHD/ASD\r\n- 2/9 seizures \nSources: Literature",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:01:07.769798+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.71",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: FOSL2 was added\ngene: FOSL2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOSL2 were set to 36197437\nPhenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related\nReview for gene: FOSL2 was set to GREEN\nAdded comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies). \r\n\r\nIn 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism. \r\n\r\nClinical features included:\r\n- Cutis aplasia congenital of the scalp (10/11)\r\n- Tooth enamel hypoplasia and discolouration (8/9)\r\n- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis\r\n- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)\r\n- 6/9 IUGR\r\n- 5/9 postnatal growth restriction\r\n- 7/9 developmental delay/ID\r\n- 5/7 ADHD/ASD\r\n- 2/9 seizures \nSources: Literature",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:59:18.130856+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4959",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: FOSL2 was added\ngene: FOSL2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOSL2 were set to 36197437\nPhenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related\nReview for gene: FOSL2 was set to GREEN\nAdded comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies). \r\n\r\nIn 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism. \r\n\r\nClinical features included:\r\n- Cutis aplasia congenital of the scalp (10/11)\r\n- Tooth enamel hypoplasia and discolouration (8/9)\r\n- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis\r\n- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)\r\n- 6/9 IUGR\r\n- 5/9 postnatal growth restriction\r\n- 7/9 developmental delay/ID (mild to severe)\r\n- 5/7 ADHD/ASD\r\n- 2/9 seizures \nSources: Literature",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:58:00.288638+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.72",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: FOSL2 was added\ngene: FOSL2 was added to Ectodermal Dysplasia. Sources: Literature\nMode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOSL2 were set to 36197437\nPhenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related\nReview for gene: FOSL2 was set to GREEN\nAdded comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies). \r\n\r\nIn 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism. \r\n\r\nClinical features included:\r\n- Cutis aplasia congenital of the scalp (10/11)\r\n- Tooth enamel hypoplasia and discolouration (8/9)\r\n- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis\r\n- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)\r\n- 6/9 IUGR\r\n- 5/9 postnatal growth restriction\r\n- 7/9 developmental delay/ID\r\n- 5/7 ADHD/ASD\r\n- 2/9 seizures \nSources: Literature",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:56:28.231853+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPHP1 were changed from Nephronophthisis to Joubert syndrome 4, MIM# 609583; Nephronophthisis 1, juvenile, MIM# 256100; Senior-Loken syndrome-1, MIM# 266900",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:56:11.508401+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NPHP1 as Red List (low evidence)",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:56:11.496887+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphp1 has been classified as Red List (Low Evidence).",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:56:00.261020+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NPHP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 4, MIM# 609583, Nephronophthisis 1, juvenile, MIM# 256100, Senior-Loken syndrome-1, MIM# 266900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:55:16.964340+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPC2 as ready",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:55:16.955447+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npc2 has been classified as Green List (High Evidence).",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:55:13.403544+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPC2 were set to ",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:54:59.731131+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann Pick C2, OMIM 607625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:54:03.767048+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPC1 as ready",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:54:03.758344+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npc1 has been classified as Green List (High Evidence).",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:53:59.947356+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPC1 were set to ",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:53:49.063709+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: NPC1.",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:53:38.593588+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann-Pick disease, MIM# 257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:52:41.400305+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH3 as ready",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:52:41.389757+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch3 has been classified as Red List (Low Evidence).",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:52:37.460136+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH3 were changed from Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM# 125310",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:52:23.783546+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOTCH3 as Red List (low evidence)",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:52:23.773888+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch3 has been classified as Red List (Low Evidence).",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:52:12.833640+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM# 125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:51:26.123461+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH2 as ready",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:51:26.114460+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch2 has been classified as Red List (Low Evidence).",
"entity_name": "NOTCH2",
"entity_type": "gene"
}
]
}